Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
			Disease Term	Human Homologs	Mouse Homologs	Mouse Models	Homology Source
			17-beta hydroxysteroid dehydrogenase 3 deficiency	HSD17B3*	Hsd17b3*	1 model	Alliance of Genome Resources
			2-aminoadipic 2-oxoadipic aciduria	DHTKD1*	Dhtkd1*	1 model	Alliance of Genome Resources
			3-methylglutaconic aciduria type 3	OPA3*	Opa3*	1 model	Alliance of Genome Resources
			3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	SERAC1*	Serac1*	1 model	Alliance of Genome Resources
			aceruloplasminemia	CP*	Cp*	3 models	Alliance of Genome Resources
			acheiropody	LMBR1*	Lmbr1*	1 model	Alliance of Genome Resources
			achondrogenesis type IA	TRIP11*	Trip11*	3 models	Alliance of Genome Resources
			achondrogenesis type II	COL2A1*	Col2a1*	1 model	Alliance of Genome Resources
			achromatopsia 2	CNGA3*	Cnga3*	3 models	Alliance of Genome Resources
			achromatopsia 3	CNGB3*	Cngb3*	2 models	Alliance of Genome Resources
			achromatopsia 7	ATF6*	Atf6*	1 model	Alliance of Genome Resources
			acromesomelic dysplasia, Grebe type	GDF5*	Gdf5*	2 models	Alliance of Genome Resources
			acromesomelic dysplasia, Hunter-Thompson type	GDF5*	Gdf5*	1 model	Alliance of Genome Resources
			acromesomelic dysplasia, Maroteaux type	NPR2*	Npr2*	2 models	Alliance of Genome Resources
			adenine phosphoribosyltransferase deficiency	APRT*	Aprt*	3 models	Alliance of Genome Resources
			adult hypophosphatasia	ALPL*	Alpl*	9 models	Alliance of Genome Resources
			adult-onset myofibrillar myopathy 2A	CRYAB*	Cryab*	4 models	Alliance of Genome Resources
			advanced sleep phase syndrome 1	PER2*	Per2*	1 model	Alliance of Genome Resources
			agenesis of the corpus callosum with peripheral neuropathy	SLC12A6*	Slc12a6*	3 models	Alliance of Genome Resources
			age related macular degeneration 12	CX3CR1*	Cx3cr1*	2 models	Alliance of Genome Resources
			age related macular degeneration 4	CFH*	Cfh*, Cfhr4	1 model	Alliance of Genome Resources
			Aicardi-Goutieres syndrome	TREX1*	Trex1*	1 model	Alliance of Genome Resources
			Aicardi-Goutieres syndrome	ADAR*	Adar*	3 models	Alliance of Genome Resources
			alacrima, achalasia, and impaired intellectual development syndrome	GMPPA*	Gmppa*	1 model	Alliance of Genome Resources
			Alexander disease	GFAP*	Gfap*	4 models	Alliance of Genome Resources
			alopecia universalis	HR*	Hr*	3 models	Alliance of Genome Resources
			alpha-2-plasmin inhibitor deficiency	SERPINF2*	Serpinf2*	1 model	Alliance of Genome Resources
			alpha thalassemia-X-linked intellectual disability syndrome	ATRX*	Atrx*	3 models	Alliance of Genome Resources
			Alstrom syndrome	ALMS1*	Alms1*	6 models	Alliance of Genome Resources
			Alzheimer's disease 3	PSEN1*	Psen1*	6 models	Alliance of Genome Resources
			amelogenesis imperfecta hypomaturation type 2A2	MMP20*	Mmp20*	1 model	Alliance of Genome Resources
			amelogenesis imperfecta hypomaturation type 2A3	WDR72*	Wdr72*	1 model	Alliance of Genome Resources
			amelogenesis imperfecta type 1B	ENAM*	Enam*	6 models	Alliance of Genome Resources
			amelogenesis imperfecta type 3C	RELT*	Relt*	1 model	Alliance of Genome Resources
			amyotrophic lateral sclerosis type 1	SOD1*	Sod1*	2 models	Alliance of Genome Resources
			ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	TP63*	Trp63*	1 model	Alliance of Genome Resources
			ankyrin-B-related cardiac arrhythmia	ANK2*	Ank2*	1 model	Alliance of Genome Resources
			antithrombin III deficiency	SERPINC1*	Serpinc1*	1 model	Alliance of Genome Resources
			arrhythmogenic right ventricular dysplasia 10	DSG2*	Dsg2*	1 model	Alliance of Genome Resources
			arrhythmogenic right ventricular dysplasia 12	JUP*	Jup*	4 models	Alliance of Genome Resources
			arrhythmogenic right ventricular dysplasia 8	DSP*	Dsp*	1 model	Alliance of Genome Resources
			asphyxiating thoracic dystrophy 2	IFT80*	Ift80*	1 model	Alliance of Genome Resources
			asphyxiating thoracic dystrophy 3	DYNC2H1*	Dync2h1*	1 model	Alliance of Genome Resources
			ataxia telangiectasia	ATM*	Atm*	9 models	Alliance of Genome Resources
			Athabaskan brainstem dysgenesis syndrome	HOXA1*	Hoxa1*	1 model	Alliance of Genome Resources
			atransferrinemia	TF*	Trf*	2 models	Alliance of Genome Resources
			atrial heart septal defect 2	GATA4*	Gata4*	1 model	Alliance of Genome Resources
			atrial heart septal defect 7	NKX2-5*	Nkx2-5*	2 models	Alliance of Genome Resources
			atrichia with papular lesions	HR*	Hr*	2 models	Alliance of Genome Resources
			autoimmune interstitial lung, joint, and kidney disease	COPA*	Copa*	1 model	Alliance of Genome Resources
			autoimmune lymphoproliferative syndrome type 2B	CASP8*	Casp8*	1 model	Alliance of Genome Resources
			autosomal dominant auditory neuropathy 1	DIAPH3*	Diaph3*	2 models	Alliance of Genome Resources
			autosomal dominant congenital deafness with onychodystrophy	ATP6V1B2*	Atp6v1b2*	2 models	Alliance of Genome Resources
			autosomal dominant distal hereditary motor neuronopathy 2	HSPB8*	Hspb8*	1 model	Alliance of Genome Resources
			autosomal dominant hypocalcemia 1	CASR*	Casr*	2 models	Alliance of Genome Resources
			autosomal dominant hypocalcemia 2	GNA11*	Gna11*	2 models	Alliance of Genome Resources
			autosomal dominant hypophosphatemic rickets	FGF23*	Fgf23*	2 models	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder 26	AUTS2*	Auts2*	1 model	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder 38	EEF1A2*	Eef1a2*	1 model	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder 39	MYT1L*	Myt1l*	2 models	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder 7	DYRK1A*	Dyrk1a*	1 model	Alliance of Genome Resources
			autosomal dominant keratitis-ichthyosis-deafness syndrome	GJB2*	Gjb2*	1 model	Alliance of Genome Resources
			autosomal dominant nocturnal frontal lobe epilepsy 3	CHRNB2*	Chrnb2*	2 models	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 12	TECTA*	Tecta*	4 models	Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 13	COL11A2*	Col11a2*	1 model	Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 15	POU4F3*	Pou4f3*	1 model	Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 22	MYO6*	Myo6*	2 models	Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 25	SLC17A8*	Slc17a8*	1 model	Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 36	TMC1*	Tmc1*	3 models	Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 41	P2RX2*	P2rx2*	1 model	Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 67	OSBPL2*	Osbpl2*	1 model	Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 9	COCH*	Coch*	1 model	Alliance of Genome Resources
autosomal dominant osteopetrosis 2	CLCN7*	Clcn7*	7 models	Alliance of Genome Resources
autosomal dominant polycystic kidney disease	PKD2*	Pkd2*	1 model	Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	TWNK*	Twnk*	2 models	Alliance of Genome Resources
autosomal dominant pseudohypoaldosteronism type 1	NR3C2*	Nr3c2*	1 model	Alliance of Genome Resources
autosomal recessive Alport syndrome	COL4A3*	Col4a3*	5 models	Alliance of Genome Resources
autosomal recessive Alport syndrome	COL4A4*	Col4a4*	5 models	Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1	TGM1*	Tgm1*	1 model	Alliance of Genome Resources
autosomal recessive congenital ichthyosis 10	PNPLA1*	Pnpla1*	1 model	Alliance of Genome Resources
autosomal recessive congenital ichthyosis 13	SDR9C7*	Sdr9c7*	1 model	Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4B	ABCA12*	Abca12*	4 models	Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 1	IGHMBP2*	Ighmbp2*	2 models	Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 41	KPTN*	Kptn*	1 model	Alliance of Genome Resources
autosomal recessive isolated ectopia lentis 2	ADAMTSL4*	Adamtsl4*	1 model	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2A	CAPN3*	Capn3*	3 models	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2B	DYSF*	Dysf*	5 models	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2C	SGCG*	Sgcg*	2 models	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2D	SGCA*	Sgca*	3 models	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2E	SGCB*	Sgcb*	2 models	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2F	SGCD*	Sgcd*	3 models	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2G	TCAP*	Tcap*	1 model	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2H	TRIM32*	Trim32*	2 models	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2I	FKRP*	Fkrp*	4 models	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2J	TTN*	Ttn*	3 models	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2L	ANO5*	Ano5*	1 model	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2P	DAG1*	Dag1*	1 model	Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2U	CRPPA*	Crppa*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness	TMTC4*	Tmtc4*	2 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 111	MPZL2*	Mpzl2*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 12	CDH23*	Cdh23*	3 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 16	STRC*, STRCP1	Strc*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 18A	USH1C*	Ush1c*	3 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 18B	OTOG*	Otog*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 1A	GJB6*	Gjb6*	3 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 1A	GJB2*	Gjb2*	2 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 2	MYO7A*	Myo7a*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 22	OTOA*	Otoa*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 23	PCDH15*	Pcdh15*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 28	TRIOBP*	Triobp*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 29	CLDN14*	Cldn14*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 3	MYO15A*	Myo15a*	2 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 30	MYO3A*	Myo3a*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 31	WHRN*	Whrn*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 32	CDC14A*	Cdc14a*	4 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 37	MYO6*	Myo6*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 39	HGF*	Hgf*	2 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 42	ILDR1*	Ildr1*	3 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 48	CIB2*	Cib2*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 49	MARVELD2*	Marveld2*	2 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 59	PJVK*	Pjvk*	2 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 63	LRTOMT*, LRRC51, TOMT	Tomt*, Lrrc51	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 68	S1PR2*	S1pr2*	2 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 7	TMC1*	Tmc1*	6 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 74	MSRB3*	Msrb3*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 79	TPRN*	Tprn*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 88	ELMOD3*	Elmod3*	1 model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 9	OTOF*	Otof*	2 models	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 93	CABP2*	Cabp2*	1 model	Alliance of Genome Resources
autosomal recessive osteopetrosis 1	TCIRG1*	Tcirg1*	2 models	Alliance of Genome Resources
autosomal recessive osteopetrosis 2	TNFSF11*	Tnfsf11*	3 models	Alliance of Genome Resources
autosomal recessive osteopetrosis 3	CA2*	Car2*	1 model	Alliance of Genome Resources
autosomal recessive osteopetrosis 4	CLCN7*	Clcn7*	2 models	Alliance of Genome Resources
autosomal recessive osteopetrosis 5	OSTM1*	Ostm1*	1 model	Alliance of Genome Resources
autosomal recessive osteopetrosis 6	PLEKHM1*	Plekhm1*	2 models	Alliance of Genome Resources
autosomal recessive osteopetrosis 8	SNX10*	Snx10*	2 models	Alliance of Genome Resources
autosomal recessive polycystic kidney disease	PKHD1*	Pkhd1*	6 models	Alliance of Genome Resources
autosomal recessive Robinow syndrome	ROR2*	Ror2*	2 models	Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 12	WWOX*	Wwox*	1 model	Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 13	GRM1*	Grm1*	1 model	Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 16	STUB1*	Stub1*	1 model	Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 18	GRID2*	Grid2*	2 models	Alliance of Genome Resources
Axenfeld-Rieger syndrome type 1	PITX2*	Pitx2*	6 models	Alliance of Genome Resources
Bardet-Biedl syndrome 1	BBS1*	Bbs1*	3 models	Alliance of Genome Resources
Bardet-Biedl syndrome 10	BBS10*	Bbs10*	1 model	Alliance of Genome Resources
Bardet-Biedl syndrome 16	SDCCAG8*	Sdccag8*	2 models	Alliance of Genome Resources
Bardet-Biedl syndrome 17	LZTFL1*	Lztfl1*	2 models	Alliance of Genome Resources
Bardet-Biedl syndrome 18	BBIP1*	Bbip1*	1 model	Alliance of Genome Resources
Bardet-Biedl syndrome 2	BBS2*	Bbs2*	2 models	Alliance of Genome Resources
Bardet-Biedl syndrome 3	ARL6*	Arl6*	1 model	Alliance of Genome Resources
Bardet-Biedl syndrome 4	BBS4*	Bbs4*	5 models	Alliance of Genome Resources
Bardet-Biedl syndrome 5	BBS5*	Bbs5*	1 model	Alliance of Genome Resources
Bardet-Biedl syndrome 6	MKKS*	Mkks*	1 model	Alliance of Genome Resources
Bardet-Biedl syndrome 8	TTC8*	Ttc8*	1 model	Alliance of Genome Resources
Beare-Stevenson cutis gyrata syndrome	FGFR2*	Fgfr2*	1 model	Alliance of Genome Resources
Bernard-Soulier syndrome	GP1BB*	Gp1bb*	4 models	Alliance of Genome Resources
Bernard-Soulier syndrome	GP1BA*	Gp1ba*	1 model	Alliance of Genome Resources
beta thalassemia	HBB*, HBD	Hbb-b1*, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt	17 models	Alliance of Genome Resources
BH4-deficient hyperphenylalaninemia A	PTS*	Pts*	2 models	Alliance of Genome Resources
BH4-deficient hyperphenylalaninemia B	GCH1*	Gch1*	1 model	Alliance of Genome Resources
biotinidase deficiency	BTD*	Btd*	1 model	Alliance of Genome Resources
Birt-Hogg-Dube syndrome	FLCN*	Flcn*	2 models	Alliance of Genome Resources
blepharophimosis, ptosis, and epicanthus inversus syndrome	FOXL2*	Foxl2*	2 models	Alliance of Genome Resources
Bloom syndrome	BLM*	Blm*	7 models	Alliance of Genome Resources
Bosch-Boonstra-Schaaf optic atrophy syndrome	NR2F1*	Nr2f1*	3 models	Alliance of Genome Resources
Bowen-Conradi syndrome	EMG1*	Emg1*	1 model	Alliance of Genome Resources
brachydactyly type A1	IHH*	Ihh*	1 model	Alliance of Genome Resources
brachydactyly type A1C	GDF5*	Gdf5*	1 model	Alliance of Genome Resources
brachydactyly type A2	GDF5*	Gdf5*	1 model	Alliance of Genome Resources
brachydactyly type C	GDF5*	Gdf5*	1 model	Alliance of Genome Resources
brachyolmia-amelogenesis imperfecta syndrome	LTBP3*	Ltbp3*	1 model	Alliance of Genome Resources
brain small vessel disease 1	COL4A1*	Col4a1*	1 model	Alliance of Genome Resources
branched-chain keto acid dehydrogenase kinase deficiency	BCKDK*	Bckdk*	1 model	Alliance of Genome Resources
branchiootorenal syndrome	SIX1*	Six1*	1 model	Alliance of Genome Resources
branchiootorenal syndrome	EYA1*	Eya1*	4 models	Alliance of Genome Resources
brittle cornea syndrome 1	ZNF469*	Zfp469*	1 model	Alliance of Genome Resources
Brugada syndrome 1	SCN5A*	Scn5a*	2 models	Alliance of Genome Resources
Brugada syndrome 7	SCN3B*	Scn3b*	1 model	Alliance of Genome Resources
bullous congenital ichthyosiform erythroderma	KRT2*	Krt2*	2 models	Alliance of Genome Resources
CADASIL 1	NOTCH3*	Notch3*	6 models	Alliance of Genome Resources
campomelic dysplasia	SOX9*	Sox9*	9 models	Alliance of Genome Resources
Canavan disease	ASPA*	Aspa*	5 models	Alliance of Genome Resources
carbamoyl phosphate synthetase I deficiency disease	CPS1*	Cps1*	1 model	Alliance of Genome Resources
Carey-Fineman-Ziter syndrome 2	MYMX*	Mymx*	1 model	Alliance of Genome Resources
Carney complex	PRKAR1A*	Prkar1a*	4 models	Alliance of Genome Resources
Carpenter syndrome 1	RAB23*	Rab23*	2 models	Alliance of Genome Resources
cataract 10 multiple types	CRYBA1*	Cryba1*	2 models	Alliance of Genome Resources
cataract 14 multiple types	GJA3*	Gja3*	2 models	Alliance of Genome Resources
cataract 15 multiple types	MIP*	Mip*	7 models	Alliance of Genome Resources
cataract 16 multiple types	CRYAB*	Cryab*	1 model	Alliance of Genome Resources
cataract 19 multiple types	LIM2*	Lim2*	4 models	Alliance of Genome Resources
cataract 1 multiple types	GJA8*	Gja8*	4 models	Alliance of Genome Resources
cataract 20 multiple types	CRYGS*	Crygs*	3 models	Alliance of Genome Resources
cataract 21 multiple types	MAF*	Maf*	1 model	Alliance of Genome Resources
cataract 2 multiple types	CRYGC*	Crygc*	2 models	Alliance of Genome Resources
cataract 30	VIM*	Vim*	1 model	Alliance of Genome Resources
cataract 39 multiple types	CRYGB*	Crygb*	6 models	Alliance of Genome Resources
cataract 3 multiple types	CRYBB2*	Crybb2*	3 models	Alliance of Genome Resources
cataract 4 multiple types	CRYGD*	Crygd*, Cryge, Crygf	2 models	Alliance of Genome Resources
cataract 5 multiple types	HSF4*	Hsf4*	2 models	Alliance of Genome Resources
cataract 6 multiple types	EPHA2*	Epha2*	1 model	Alliance of Genome Resources
cataract 9 multiple types	CRYAA*	Cryaa*	9 models	Alliance of Genome Resources
Cayman type cerebellar ataxia	ATCAY*	Atcay*	3 models	Alliance of Genome Resources
CEDNIK syndrome	SNAP29*	Snap29*	2 models	Alliance of Genome Resources
central precocious puberty 2	MKRN3*	Mkrn3*	1 model	Alliance of Genome Resources
cerebellar ataxia type 42	CACNA1G*	Cacna1g*	2 models	Alliance of Genome Resources
cerebrocostomandibular syndrome	SNRPB*	Snrpb*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2K	GDAP1*	Gdap1*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2O	DYNC1H1*	Dync1h1*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2P	LRSAM1*	Lrsam1*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2Q	DHTKD1*	Dhtkd1*	2 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2S	IGHMBP2*	Ighmbp2*	2 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2Z	MORC2*	Morc2a*, Morc2b	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate C	YARS1*	Yars1*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease recessive intermediate D	COX6A1*	Cox6a1*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1A	PMP22*	Pmp22*	6 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1B	MPZ*	Mpz*	10 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1C	LITAF*	Litaf*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1E	PMP22*	Pmp22*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2A1	KIF1B*	Kif1b*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2A2A	MFN2*	Mfn2*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2B	RAB7A*	Rab7*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2B1	LMNA*	Lmna*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2D	GARS1*	Gars1*	4 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2E	NEFL*	Nefl*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3	PMP22*	Pmp22*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3	MPZ*	Mpz*	3 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4B1	MTMR2*	Mtmr2*	2 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4B2	SBF2*	Sbf2*	2 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4B3	SBF1*	Sbf1*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4C	SH3TC2*	Sh3tc2*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4D	NDRG1*	Ndrg1*	2 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4E	EGR2*	Egr2*	2 models	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4H	FGD4*	Fgd4*	1 model	Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4J	FIG4*	Fig4*	2 models	Alliance of Genome Resources
Charlevoix-Saguenay spastic ataxia	SACS*	Sacs*	2 models	Alliance of Genome Resources
Chediak-Higashi syndrome	LYST*	Lyst*	9 models	Alliance of Genome Resources
cherubism 1	SH3BP2*	Sh3bp2*	2 models	Alliance of Genome Resources
childhood hypophosphatasia	ALPL*	Alpl*	1 model	Alliance of Genome Resources
chondrodysplasia with joint dislocations gPAPP type	BPNT2*	Bpnt2*	1 model	Alliance of Genome Resources
choreaacanthocytosis	VPS13A*	Vps13a*	1 model	Alliance of Genome Resources
CINCA Syndrome	NLRP3*	Nlrp3*	1 model	Alliance of Genome Resources
cleidocranial dysplasia	RUNX2*	Runx2*	4 models	Alliance of Genome Resources
Clouston syndrome	GJB6*	Gjb6*	1 model	Alliance of Genome Resources
Cockayne syndrome	ERCC6*	Ercc6*	4 models	Alliance of Genome Resources
Cockayne syndrome	ERCC8*	Ercc8*	2 models	Alliance of Genome Resources
Coffin-Siris syndrome 1	ARID1B*	Arid1b*	1 model	Alliance of Genome Resources
Cohen syndrome	VPS13B*	Vps13b*	1 model	Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 4	TUBG1*	Tubg1*	1 model	Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 7	TUBB2B*	Tubb2b*	1 model	Alliance of Genome Resources
Compton-North congenital myopathy	CNTN1*	Cntn1*	3 models	Alliance of Genome Resources
cone-rod dystrophy 21	DRAM2*	Dram2*	1 model	Alliance of Genome Resources
cone-rod dystrophy 22	TLCD3B*	Tlcd3b*	1 model	Alliance of Genome Resources
congenital afibrinogenemia	FGG*	Fgg*	1 model	Alliance of Genome Resources
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	PBX1*	Pbx1*	1 model	Alliance of Genome Resources
congenital central hypoventilation syndrome	PHOX2B*	Phox2b*	2 models	Alliance of Genome Resources
congenital diarrhea 5 with tufting enteropathy	EPCAM*	Epcam*	1 model	Alliance of Genome Resources
congenital disorder of glycosylation type IIa	MGAT2*	Mgat2*	2 models	Alliance of Genome Resources
congenital disorder of glycosylation type IIc	SLC35C1*	Slc35c1*	1 model	Alliance of Genome Resources
congenital generalized lipodystrophy type 1	AGPAT2*	Agpat2*	1 model	Alliance of Genome Resources
congenital generalized lipodystrophy type 2	BSCL2*	Bscl2*	3 models	Alliance of Genome Resources
congenital generalized lipodystrophy type 4	CAVIN1*	Cavin1*	1 model	Alliance of Genome Resources
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	CDK13*	Cdk13*	1 model	Alliance of Genome Resources
congenital hereditary endothelial dystrophy of cornea	SLC4A11*	Slc4a11*	1 model	Alliance of Genome Resources
congenital megabladder	MYOCD*	Myocd*	2 models	Alliance of Genome Resources
congenital merosin-deficient muscular dystrophy 1A	LAMA2*	Lama2*	10 models	Alliance of Genome Resources
congenital muscular dystrophy due to integrin alpha-7 deficiency	ITGA7*	Itga7*	1 model	Alliance of Genome Resources
congenital muscular dystrophy due to LMNA mutation	LMNA*	Lmna*	1 model	Alliance of Genome Resources
congenital myasthenic syndrome 10	DOK7*	Dok7*	1 model	Alliance of Genome Resources
congenital myasthenic syndrome 11	RAPSN*	Rapsn*	1 model	Alliance of Genome Resources
congenital myasthenic syndrome 12	GFPT1*	Gfpt1*	1 model	Alliance of Genome Resources
congenital myasthenic syndrome 19	COL13A1*	Col13a1*	1 model	Alliance of Genome Resources
congenital myasthenic syndrome 3A	CHRND*	Chrnd*	1 model	Alliance of Genome Resources
congenital myasthenic syndrome 4A	CHRNE*	Chrne*	2 models	Alliance of Genome Resources
congenital myasthenic syndrome 4C	CHRNE*	Chrne*	1 model	Alliance of Genome Resources
congenital myasthenic syndrome 5	COLQ*	Colq*	1 model	Alliance of Genome Resources
congenital myasthenic syndrome 6	CHAT*	Chat*	2 models	Alliance of Genome Resources
congenital myasthenic syndrome 8	AGRN*	Agrn*	1 model	Alliance of Genome Resources
congenital myasthenic syndrome 9	MUSK*	Musk*	3 models	Alliance of Genome Resources
congenital myopathy 1A	RYR1*	Ryr1*	3 models	Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia 2	PKLR*	Pklr*	2 models	Alliance of Genome Resources
congenital secretory chloride diarrhea 1	SLC26A3*	Slc26a3*	1 model	Alliance of Genome Resources
congenital stationary night blindness 1B	GRM6*	Grm6*	2 models	Alliance of Genome Resources
congenital stationary night blindness 1C	TRPM1*	Trpm1*	2 models	Alliance of Genome Resources
congenital stationary night blindness 1D	SLC24A1*	Slc24a1*	1 model	Alliance of Genome Resources
congenital stationary night blindness 1E	GPR179*	Gpr179*	1 model	Alliance of Genome Resources
congenital stationary night blindness 1F	LRIT3*	Lrit3*	1 model	Alliance of Genome Resources
congenital stationary night blindness autosomal dominant 1	RHO*	Rho*	1 model	Alliance of Genome Resources
congenital stationary night blindness autosomal dominant 2	PDE6B*	Pde6b*	14 models	Alliance of Genome Resources
Cornelia de Lange syndrome 1	NIPBL*	Nipbl*	2 models	Alliance of Genome Resources
Cornelia de Lange syndrome 3	SMC3*	Smc3*	1 model	Alliance of Genome Resources
cortical dysplasia-focal epilepsy syndrome	CNTNAP2*	Cntnap2*	1 model	Alliance of Genome Resources
cortisone reductase deficiency 2	HSD11B1*	Hsd11b1*	1 model	Alliance of Genome Resources
Costello syndrome	HRAS*	Hras*	2 models	Alliance of Genome Resources
Cowden syndrome 1	PTEN*	Pten*	3 models	Alliance of Genome Resources
craniotubular dysplasia Ikegawa type	TMEM53*	Tmem53*	1 model	Alliance of Genome Resources
cystathioninuria	CTH*	Cth*	1 model	Alliance of Genome Resources
cystic fibrosis	CFTR*	Cftr*	19 models	Alliance of Genome Resources
cystinosis	CTNS*	Ctns*	1 model	Alliance of Genome Resources
dehydrated hereditary stomatocytosis 1	PIEZO1*	Piezo1*	1 model	Alliance of Genome Resources
dentinogenesis imperfecta	DSPP*	Dspp*	1 model	Alliance of Genome Resources
Denys-Drash syndrome	WT1*	Wt1*	6 models	Alliance of Genome Resources
developmental and epileptic encephalopathy 14	KCNT1*	Kcnt1*	2 models	Alliance of Genome Resources
developmental and epileptic encephalopathy 16	TBC1D24*	Tbc1d24*	1 model	Alliance of Genome Resources
developmental and epileptic encephalopathy 17	GNAO1*	Gnao1*	3 models	Alliance of Genome Resources
developmental and epileptic encephalopathy 37	FRRS1L*	Frrs1l*	1 model	Alliance of Genome Resources
developmental and epileptic encephalopathy 39	SLC25A12*	Slc25a12*	1 model	Alliance of Genome Resources
developmental and epileptic encephalopathy 46	GRIN2D*	Grin2d*	1 model	Alliance of Genome Resources
developmental and epileptic encephalopathy 54	HNRNPU*	Hnrnpu*	1 model	Alliance of Genome Resources
developmental and epileptic encephalopathy 7	KCNQ2*	Kcnq2*	1 model	Alliance of Genome Resources
Diamond-Blackfan anemia 6	RPL5*	Rpl5*	1 model	Alliance of Genome Resources
Diamond-Blackfan anemia 7	RPL11*	Rpl11*	1 model	Alliance of Genome Resources
diastrophic dysplasia	SLC26A2*	Slc26a2*	1 model	Alliance of Genome Resources
dicarboxylic aminoaciduria	SLC1A1*	Slc1a1*	1 model	Alliance of Genome Resources
DiGeorge syndrome	TBX1*	Tbx1*	24 models	Alliance of Genome Resources
dilated cardiomyopathy 1A	LMNA*	Lmna*	4 models	Alliance of Genome Resources
dilated cardiomyopathy 1C	LDB3*	Ldb3*	2 models	Alliance of Genome Resources
dilated cardiomyopathy 1CC	NEXN*	Nexn*	4 models	Alliance of Genome Resources
dilated cardiomyopathy 1D	TNNT2*	Tnnt2*	3 models	Alliance of Genome Resources
dilated cardiomyopathy 1DD	RBM20*	Rbm20*	3 models	Alliance of Genome Resources
dilated cardiomyopathy 1HH	BAG3*	Bag3*	2 models	Alliance of Genome Resources
dilated cardiomyopathy 1R	ACTC1*	Actc1*	1 model	Alliance of Genome Resources
dilated cardiomyopathy 1Y	TPM1*	Tpm1*	2 models	Alliance of Genome Resources
dilated cardiomyopathy 2F	BAG5*	Bag5*	1 model	Alliance of Genome Resources
diphthamide deficiency syndrome 1	DPH1*	Dph1*	1 model	Alliance of Genome Resources
DNA ligase IV deficiency	LIG4*	Lig4*	2 models	Alliance of Genome Resources
Donnai-Barrow syndrome	LRP2*	Lrp2*	1 model	Alliance of Genome Resources
Doyne honeycomb retinal dystrophy	EFEMP1*	Efemp1*	4 models	Alliance of Genome Resources
Dravet syndrome	SCN1A*	Scn1a*	8 models	Alliance of Genome Resources
Duane-radial ray syndrome	SALL4*	Sall4*	4 models	Alliance of Genome Resources
EAST syndrome	KCNJ10*	Kcnj10*	2 models	Alliance of Genome Resources
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	TP63*	Trp63*	4 models	Alliance of Genome Resources
Ehlers-Danlos syndrome classic type 1	COL5A1*	Col5a1*	3 models	Alliance of Genome Resources
Ellis-Van Creveld syndrome	EVC*	Evc*	1 model	Alliance of Genome Resources
Ellis-Van Creveld syndrome	EVC2*	Evc2*	1 model	Alliance of Genome Resources
endocrine-cerebro-osteodysplasia syndrome	CILK1*	Cilk1*	2 models	Alliance of Genome Resources
enhanced S-cone syndrome	NR2E3*	Nr2e3*	2 models	Alliance of Genome Resources
epidermolysis bullosa simplex Ogna type	PLEC*	Plec*	4 models	Alliance of Genome Resources
epidermolysis bullosa simplex with muscular dystrophy	PLEC*	Plec*	2 models	Alliance of Genome Resources
episodic kinesigenic dyskinesia 1	PRRT2*	Prrt2*	2 models	Alliance of Genome Resources
factor V deficiency	F5*	F5*	1 model	Alliance of Genome Resources
factor XI deficiency	F11*	F11*	1 model	Alliance of Genome Resources
factor XII deficiency	F12*	F12*	1 model	Alliance of Genome Resources
factor XIII deficiency	F13A1*	F13a1*	2 models	Alliance of Genome Resources
familial cold autoinflammatory syndrome 1	NLRP3*	Nlrp3*	2 models	Alliance of Genome Resources
familial cold autoinflammatory syndrome 4	NLRC4*	Nlrc4*	1 model	Alliance of Genome Resources
familial encephalopathy with neuroserpin inclusion bodies	SERPINI1*	Serpini1*	1 model	Alliance of Genome Resources
familial episodic pain syndrome 3	SCN11A*	Scn11a*	1 model	Alliance of Genome Resources
familial erythrocytosis 2	VHL*	Vhl*	1 model	Alliance of Genome Resources
familial hemophagocytic lymphohistiocytosis 2	PRF1*	Prf1*	1 model	Alliance of Genome Resources
familial hemophagocytic lymphohistiocytosis 3	UNC13D*	Unc13d*	1 model	Alliance of Genome Resources
familial hemophagocytic lymphohistiocytosis 4	STX11*	Stx11*	1 model	Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 3	GCK*	Gck*	1 model	Alliance of Genome Resources
familial hypocalciuric hypercalcemia 1	CASR*	Casr*	7 models	Alliance of Genome Resources
familial lipoprotein lipase deficiency	LPL*	Lpl*	4 models	Alliance of Genome Resources
familial Mediterranean fever	MEFV*	Mefv*	4 models	Alliance of Genome Resources
familial temporal lobe epilepsy 1	LGI1*	Lgi1*	4 models	Alliance of Genome Resources
Fanconi anemia complementation group A	FANCA*	Fanca*	3 models	Alliance of Genome Resources
Fanconi anemia complementation group C	FANCC*	Fancc*	2 models	Alliance of Genome Resources
Fanconi anemia complementation group D1	BRCA2*	Brca2*	1 model	Alliance of Genome Resources
Fanconi anemia complementation group D2	FANCD2*	Fancd2*	6 models	Alliance of Genome Resources
fetal encasement syndrome	CHUK*	Chuk*	3 models	Alliance of Genome Resources
fibrodysplasia ossificans progressiva	ACVR1*	Acvr1*	5 models	Alliance of Genome Resources
fibular hypoplasia and complex brachydactyly	GDF5*	Gdf5*	1 model	Alliance of Genome Resources
focal segmental glomerulosclerosis 1	ACTN4*	Actn4*	1 model	Alliance of Genome Resources
focal segmental glomerulosclerosis 2	TRPC6*	Trpc6*	3 models	Alliance of Genome Resources
focal segmental glomerulosclerosis 3	CD2AP*	Cd2ap*	1 model	Alliance of Genome Resources
foveal hypoplasia 2	SLC38A8*	Slc38a8*	1 model	Alliance of Genome Resources
Friedreich ataxia	FXN*	Fxn*	8 models	Alliance of Genome Resources
frontonasal dysplasia 3	ALX1*	Alx1*	1 model	Alliance of Genome Resources
frontotemporal dementia 2	GRN*	Grn*	3 models	Alliance of Genome Resources
Fuhrmann syndrome	WNT7A*	Wnt7a*	2 models	Alliance of Genome Resources
Fukuyama congenital muscular dystrophy	FKTN*	Fktn*	6 models	Alliance of Genome Resources
GAND syndrome	GATAD2B*	Gatad2b*	1 model	Alliance of Genome Resources
geleophysic dysplasia 1	ADAMTSL2*	Adamtsl2*	5 models	Alliance of Genome Resources
giant axonal neuropathy 1	GAN*	Gan*	2 models	Alliance of Genome Resources
Gitelman syndrome	SLC12A3*	Slc12a3*	2 models	Alliance of Genome Resources
glucose transporter type 1 deficiency syndrome 1	SLC2A1*	Slc2a1*	1 model	Alliance of Genome Resources
glutaric acidemia I	GCDH*	Gcdh*	2 models	Alliance of Genome Resources
glutaric acidemia type 3	SUGCT*	Sugct*	1 model	Alliance of Genome Resources
glycine encephalopathy	GLDC*	Gldc*	1 model	Alliance of Genome Resources
glycogen storage disease Ia	G6PC1*	G6pc1*	5 models	Alliance of Genome Resources
glycogen storage disease Ib	SLC37A4*	Slc37a4*	1 model	Alliance of Genome Resources
glycogen storage disease II	GAA*	Gaa*	5 models	Alliance of Genome Resources
glycogen storage disease III	AGL*	Agl*	2 models	Alliance of Genome Resources
glycogen storage disease IV	GBE1*	Gbe1*	4 models	Alliance of Genome Resources
glycogen storage disease V	PYGM*	Pygm*	1 model	Alliance of Genome Resources
glycogen storage disease VI	PYGL*	Pygl*	1 model	Alliance of Genome Resources
glycogen storage disease VII	PFKM*	Pfkm*	1 model	Alliance of Genome Resources
glycogen storage disease XV	GYG1*	Gyg1*	1 model	Alliance of Genome Resources
GM1 gangliosidosis	GLB1*	Glb1*	3 models	Alliance of Genome Resources
GM2 gangliosidosis, AB variant	GM2A*	Gm2a*	1 model	Alliance of Genome Resources
gnathodiaphyseal dysplasia	ANO5*	Ano5*	2 models	Alliance of Genome Resources
Goldberg-Shprintzen syndrome	KIFBP*	Kifbp*	2 models	Alliance of Genome Resources
GRACILE syndrome	BCS1L*	Bcs1l*	1 model	Alliance of Genome Resources
gray platelet syndrome	NBEAL2*	Nbeal2*	3 models	Alliance of Genome Resources
Greig cephalopolysyndactyly syndrome	GLI3*	Gli3*	1 model	Alliance of Genome Resources
Griscelli syndrome type 1	MYO5A*	Myo5a*	2 models	Alliance of Genome Resources
Hajdu-Cheney syndrome	NOTCH2*	Notch2*	4 models	Alliance of Genome Resources
hand-foot-genital syndrome	HOXA13*	Hoxa13*	5 models	Alliance of Genome Resources
Helsmoortel-Van Der Aa Syndrome	ADNP*	Adnp*	2 models	Alliance of Genome Resources
hereditary hemorrhagic telangiectasia	ACVRL1*	Acvrl1*	5 models	Alliance of Genome Resources
hereditary hemorrhagic telangiectasia	ENG*	Eng*	6 models	Alliance of Genome Resources
hereditary multiple exostoses	EXT1*	Ext1*	5 models	Alliance of Genome Resources
hereditary neuropathy with liability to pressure palsies	PMP22*	Pmp22*	3 models	Alliance of Genome Resources
hereditary neutrophilia	CSF3R*	Csf3r*	1 model	Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 6	DST*	Dst*	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 11	SPG11*	Spg11*	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 13	HSPD1*	Hspd1*	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 15	ZFYVE26*	Zfyve26*	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 30	KIF1A*	Kif1a*	2 models	Alliance of Genome Resources
hereditary spastic paraplegia 31	REEP1*	Reep1*	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 35	FA2H*	Fa2h*	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 4	SPAST*	Spast*	3 models	Alliance of Genome Resources
hereditary spastic paraplegia 48	AP5Z1*	Ap5z1*	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 54	DDHD2*	Ddhd2*	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 7	SPG7*	Spg7*	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 80	UBAP1*	Ubap1*	1 model	Alliance of Genome Resources
hereditary spherocytosis type 1	ANK1*	Ank1*	4 models	Alliance of Genome Resources
hereditary spherocytosis type 3	SPTA1*	Spta1*	5 models	Alliance of Genome Resources
hereditary systemic amyloidosis 1	TTR*	Ttr*	4 models	Alliance of Genome Resources
Hermansky-Pudlak syndrome	BLOC1S5*	Bloc1s5*	2 models	Alliance of Genome Resources
Hermansky-Pudlak syndrome 1	HPS1*	Hps1*	4 models	Alliance of Genome Resources
Hermansky-Pudlak syndrome 2	AP3B1*	Ap3b1*	4 models	Alliance of Genome Resources
Hermansky-Pudlak syndrome 3	HPS3*	Hps3*	3 models	Alliance of Genome Resources
Hermansky-Pudlak syndrome 4	HPS4*	Hps4*	2 models	Alliance of Genome Resources
Hermansky-Pudlak syndrome 5	HPS5*	Hps5*	3 models	Alliance of Genome Resources
Hermansky-Pudlak syndrome 6	HPS6*	Hps6*	2 models	Alliance of Genome Resources
Hermansky-Pudlak syndrome 7	DTNBP1*	Dtnbp1*	1 model	Alliance of Genome Resources
Hermansky-Pudlak syndrome 8	BLOC1S3*	Bloc1s3*	1 model	Alliance of Genome Resources
Hermansky-Pudlak syndrome 9	BLOC1S6*	Bloc1s6*	1 model	Alliance of Genome Resources
high myopia-sensorineural deafness syndrome	SLITRK6*	Slitrk6*	1 model	Alliance of Genome Resources
HMG-CoA synthase 2 deficiency	HMGCS2*	Hmgcs2*	2 models	Alliance of Genome Resources
holoprosencephaly 11	CDON*	Cdon*	8 models	Alliance of Genome Resources
holoprosencephaly 2	SIX3*	Six3*	4 models	Alliance of Genome Resources
holoprosencephaly 3	SHH*	Shh*	3 models	Alliance of Genome Resources
holoprosencephaly 5	ZIC2*	Zic2*	3 models	Alliance of Genome Resources
Holt-Oram syndrome	TBX5*	Tbx5*	3 models	Alliance of Genome Resources
hyperekplexia 1	GLRA1*	Glra1*	4 models	Alliance of Genome Resources
hyperekplexia 2	GLRB*	Glrb*	1 model	Alliance of Genome Resources
hyperekplexia 3	SLC6A5*	Slc6a5*	2 models	Alliance of Genome Resources
hyper IgE recurrent infection syndrome 1	STAT3*	Stat3*	1 model	Alliance of Genome Resources
hypochondroplasia	FGFR3*	Fgfr3*	1 model	Alliance of Genome Resources
hypogonadotropic hypogonadism 11 with or without anosmia	TACR3*	Tacr3*	1 model	Alliance of Genome Resources
hypogonadotropic hypogonadism 12 with or without anosmia	GNRH1*	Gnrh1*	1 model	Alliance of Genome Resources
hypogonadotropic hypogonadism 13 with or without anosmia	KISS1*	Kiss1*	2 models	Alliance of Genome Resources
hypogonadotropic hypogonadism 7 with or without anosmia	GNRHR*	Gnrhr*	1 model	Alliance of Genome Resources
hypogonadotropic hypogonadism 8 with or without anosmia	KISS1R*	Kiss1r*	4 models	Alliance of Genome Resources
hypomyelinating leukodystrophy 2	GJC2*	Gjc2*	3 models	Alliance of Genome Resources
hypomyelinating leukodystrophy 6	TUBB4A*	Tubb4a*	3 models	Alliance of Genome Resources
hypomyelinating leukodystrophy 7	POLR3A*	Polr3a*	2 models	Alliance of Genome Resources
hypotrichosis 13	KRT71*	Krt71*	1 model	Alliance of Genome Resources
hypotrichosis 6	DSG4*	Dsg4*	3 models	Alliance of Genome Resources
immunodeficiency 14	PIK3CD*	Pik3cd*	1 model	Alliance of Genome Resources
immunodeficiency 15A	IKBKB*	Ikbkb*	2 models	Alliance of Genome Resources
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	RAC2*	Rac2*	1 model	Alliance of Genome Resources
immunodeficiency-centromeric instability-facial anomalies syndrome 1	DNMT3B*	Dnmt3b*	7 models	Alliance of Genome Resources
immunodeficiency with hyper-IgM type 2	AICDA*	Aicda*	1 model	Alliance of Genome Resources
infantile hypophosphatasia	ALPL*	Alpl*	3 models	Alliance of Genome Resources
isolated microphthalmia 6	PRSS56*	Prss56*	4 models	Alliance of Genome Resources
isolated mitochondrial myopathy	CHCHD10*	Chchd10*	1 model	Alliance of Genome Resources
Johanson-Blizzard syndrome	UBR1*	Ubr1*	1 model	Alliance of Genome Resources
junctional epidermolysis bullosa with pyloric atresia	ITGB4*	Itgb4*	1 model	Alliance of Genome Resources
juvenile polyposis syndrome	SMAD4*	Smad4*	1 model	Alliance of Genome Resources
juvenile polyposis syndrome	BMPR1A*	Bmpr1a*	1 model	Alliance of Genome Resources
karyomegalic interstitial nephritis	FAN1*	Fan1*	3 models	Alliance of Genome Resources
Kaufman oculocerebrofacial syndrome	UBE3B*	Ube3b*	1 model	Alliance of Genome Resources
KINSSHIP syndrome	AFF3*	Aff3*	1 model	Alliance of Genome Resources
Kleefstra syndrome 1	EHMT1*	Ehmt1*	2 models	Alliance of Genome Resources
Kohlschutter-Tonz syndrome	ROGDI*	Rogdi*	1 model	Alliance of Genome Resources
Koolen de Vries syndrome	KANSL1*	Kansl1*	2 models	Alliance of Genome Resources
Kufor-Rakeb syndrome	ATP13A2*	Atp13a2*	1 model	Alliance of Genome Resources
Laron syndrome	GHR*	Ghr*	2 models	Alliance of Genome Resources
Leber congenital amaurosis 1	GUCY2D*	Gucy2e*	3 models	Alliance of Genome Resources
Leber congenital amaurosis 12	RD3*	Rd3*	1 model	Alliance of Genome Resources
Leber congenital amaurosis 14	LRAT*	Lrat*	1 model	Alliance of Genome Resources
Leber congenital amaurosis 2	RPE65*	Rpe65*	4 models	Alliance of Genome Resources
Leber congenital amaurosis 4	AIPL1*	Aipl1*	5 models	Alliance of Genome Resources
Leber congenital amaurosis 5	LCA5*	Lca5*	1 model	Alliance of Genome Resources
Leber congenital amaurosis 6	RPGRIP1*	Rpgrip1*	3 models	Alliance of Genome Resources
Leber congenital amaurosis 8	CRB1*	Crb1*	3 models	Alliance of Genome Resources
Leber congenital amaurosis 9	NMNAT1*	Nmnat1*	2 models	Alliance of Genome Resources
leukocyte adhesion deficiency 1	ITGB2*	Itgb2*, Itgb2l	3 models	Alliance of Genome Resources
leukocyte adhesion deficiency 3	FERMT3*	Fermt3*	1 model	Alliance of Genome Resources
leukoencephalopathy with vanishing white matter	EIF2B5*	Eif2b5*	7 models	Alliance of Genome Resources
Li-Fraumeni syndrome	TP53*	Trp53*	8 models	Alliance of Genome Resources
long QT syndrome 1	KCNQ1*	Kcnq1*	1 model	Alliance of Genome Resources
long QT syndrome 3	SCN5A*	Scn5a*	4 models	Alliance of Genome Resources
Lynch syndrome	MSH2*	Msh2*	5 models	Alliance of Genome Resources
Lynch syndrome	MLH1*	Mlh1*	2 models	Alliance of Genome Resources
Machado-Joseph disease	ATXN3*	Atxn3*	2 models	Alliance of Genome Resources
macrocephaly-autism syndrome	PTEN*	Pten*	2 models	Alliance of Genome Resources
Mahvash Disease	GCGR*	Gcgr*	1 model	Alliance of Genome Resources
mal de Meleda	SLURP1*	Slurp1*	2 models	Alliance of Genome Resources
malignant hyperthermia	RYR1*	Ryr1*	5 models	Alliance of Genome Resources
Marsili syndrome	ZFHX2*	Zfhx2*	2 models	Alliance of Genome Resources
maturity-onset diabetes of the young type 1	HNF4A*	Hnf4a*	1 model	Alliance of Genome Resources
maturity-onset diabetes of the young type 2	GCK*	Gck*	29 models	Alliance of Genome Resources
maturity-onset diabetes of the young type 3	HNF1A*	Hnf1a*	1 model	Alliance of Genome Resources
maturity-onset diabetes of the young type 4	PDX1*	Pdx1*	1 model	Alliance of Genome Resources
megaconial type congenital muscular dystrophy	CHKB*	Chkb*	1 model	Alliance of Genome Resources
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	MAST1*	Mast1*	1 model	Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts 1	MLC1*	Mlc1*	1 model	Alliance of Genome Resources
microcephalic osteodysplastic primordial dwarfism type II	PCNT*	Pcnt*	1 model	Alliance of Genome Resources
microphthalmia with limb anomalies	SMOC1*	Smoc1*	2 models	Alliance of Genome Resources
microvillus inclusion disease	MYO5B*	Myo5b*	2 models	Alliance of Genome Resources
mitochondrial DNA depletion syndrome 2	TK2*	Tk2*	1 model	Alliance of Genome Resources
mitochondrial DNA depletion syndrome 5	SUCLA2*	Sucla2*	1 model	Alliance of Genome Resources
mitochondrial DNA depletion syndrome 7	TWNK*	Twnk*	1 model	Alliance of Genome Resources
mosaic variegated aneuploidy syndrome 1	BUB1B*	Bub1b*	2 models	Alliance of Genome Resources
Mowat-Wilson syndrome	ZEB2*	Zeb2*	1 model	Alliance of Genome Resources
mucosulfatidosis	SUMF1*	Sumf1*	1 model	Alliance of Genome Resources
Muenke Syndrome	FGFR3*	Fgfr3*	6 models	Alliance of Genome Resources
mulibrey nanism	TRIM37*	Trim37*	1 model	Alliance of Genome Resources
multicentric carpotarsal osteolysis syndrome	MAFB*	Mafb*	1 model	Alliance of Genome Resources
multiple endocrine neoplasia type 1	MEN1*	Men1*	7 models	Alliance of Genome Resources
multiple endocrine neoplasia type 2B	RET*	Ret*	2 models	Alliance of Genome Resources
multiple epiphyseal dysplasia 5	MATN3*	Matn3*	1 model	Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1	POMT1*	Pomt1*	1 model	Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B5	FKRP*	Fkrp*	1 model	Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B6	LARGE1*	Large1*	1 model	Alliance of Genome Resources
myoclonic dystonia 11	SGCE*	Sgce*	2 models	Alliance of Genome Resources
myofibrillar myopathy 1	DES*	Des*	4 models	Alliance of Genome Resources
myofibrillar myopathy 5	FLNC*	Flnc*	1 model	Alliance of Genome Resources
nail-patella syndrome	LMX1B*	Lmx1b*	4 models	Alliance of Genome Resources
Nasu-Hakola disease	TYROBP*	Tyrobp*	2 models	Alliance of Genome Resources
nemaline myopathy 10	LMOD3*	Lmod3*	2 models	Alliance of Genome Resources
nemaline myopathy 11	MYPN*	Mypn*	1 model	Alliance of Genome Resources
nemaline myopathy 2	NEB*	Neb*	4 models	Alliance of Genome Resources
nemaline myopathy 3	ACTA1*	Acta1*	2 models	Alliance of Genome Resources
nemaline myopathy 5A	TNNT1*	Tnnt1*	1 model	Alliance of Genome Resources
nemaline myopathy 6	KBTBD13*	Kbtbd13*	1 model	Alliance of Genome Resources
nemaline myopathy 8	KLHL40*	Klhl40*	1 model	Alliance of Genome Resources
neonatal diabetes mellitus with congenital hypothyroidism	GLIS3*	Glis3*	2 models	Alliance of Genome Resources
nephronophthisis 1	NPHP1*	Nphp1*	2 models	Alliance of Genome Resources
nephronophthisis 2	INVS*	Invs*	1 model	Alliance of Genome Resources
nephronophthisis 3	NPHP3*	Nphp3*	2 models	Alliance of Genome Resources
nephronophthisis 4	NPHP4*	Nphp4*	1 model	Alliance of Genome Resources
nephronophthisis 7	GLIS2*	Glis2*	1 model	Alliance of Genome Resources
Netherton syndrome	SPINK5*	Spink5*	7 models	Alliance of Genome Resources
neurodegeneration with brain iron accumulation 2a	PLA2G6*	Pla2g6*	4 models	Alliance of Genome Resources
neurodegeneration with brain iron accumulation 6	COASY*	Coasy*	1 model	Alliance of Genome Resources
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	BPTF*	Bptf*	1 model	Alliance of Genome Resources
neurodevelopmental disorder with involuntary movements	GNAO1*	Gnao1*	1 model	Alliance of Genome Resources
neurodevelopmental disorder with midbrain and hindbrain malformations	ARHGEF2*	Arhgef2*	1 model	Alliance of Genome Resources
neurodevelopmental disorder with poor growth and behavioral abnormalities	ATP9A*	Atp9a*	1 model	Alliance of Genome Resources
neurofibromatosis 1	NF1*	Nf1*	17 models	Alliance of Genome Resources
neurohypophyseal diabetes insipidus	AVP*	Avp*	2 models	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 1	PPT1*	Ppt1*	3 models	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 10	CTSD*	Ctsd*	4 models	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 2	TPP1*	Tpp1*	4 models	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3	CLN3*	Cln3*	7 models	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 5	CLN5*	Cln5*	1 model	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 6A	CLN6*	Cln6*	1 model	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 7	MFSD8*	Mfsd8*	1 model	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 8	CLN8*	Cln8*	4 models	Alliance of Genome Resources
Nijmegen breakage syndrome	NBN*	Nbn*	7 models	Alliance of Genome Resources
Noonan syndrome 1	PTPN11*	Ptpn11*	3 models	Alliance of Genome Resources
Noonan syndrome 10	LZTR1*	Lztr1*	2 models	Alliance of Genome Resources
Noonan syndrome 3	KRAS*	Kras*	1 model	Alliance of Genome Resources
Noonan syndrome 4	SOS1*	Sos1*	2 models	Alliance of Genome Resources
Noonan syndrome 5	RAF1*	Raf1*	2 models	Alliance of Genome Resources
Noonan syndrome 8	RIT1*	Rit1*	1 model	Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 20	ACAD9*	Acad9*	2 models	Alliance of Genome Resources
oculocutaneous albinism	TYR*	Tyr*	2 models	Alliance of Genome Resources
Oguchi disease-2	GRK1*	Grk1*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 1	COL1A1*	Col1a1*	2 models	Alliance of Genome Resources
osteogenesis imperfecta type 10	SERPINH1*	Serpinh1*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 2	COL1A1*	Col1a1*	2 models	Alliance of Genome Resources
osteogenesis imperfecta type 3	COL1A2*	Col1a2*	2 models	Alliance of Genome Resources
osteogenesis imperfecta type 3	COL1A1*	Col1a1*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 4	COL1A1*	Col1a1*	3 models	Alliance of Genome Resources
osteogenesis imperfecta type 5	IFITM5*	Ifitm5*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 7	CRTAP*	Crtap*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 8	P3H1*	P3h1*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 9	PPIB*	Ppib*	2 models	Alliance of Genome Resources
osteoporosis-pseudoglioma syndrome	LRP5*	Lrp5*	3 models	Alliance of Genome Resources
otospondylomegaepiphyseal dysplasia, autosomal recessive	COL11A2*	Col11a2*	1 model	Alliance of Genome Resources
pachyonychia congenita	KRT16*	Krt16*	1 model	Alliance of Genome Resources
Pallister-Hall syndrome	GLI3*	Gli3*	1 model	Alliance of Genome Resources
palmoplantar keratoderma-esophageal carcinoma syndrome	RHBDF2*	Rhbdf2*	3 models	Alliance of Genome Resources
Parkinson's disease 1	SNCA*	Snca*	6 models	Alliance of Genome Resources
Parkinson's disease 14	PLA2G6*	Pla2g6*	1 model	Alliance of Genome Resources
Parkinson's disease 17	VPS35*	Vps35*	2 models	Alliance of Genome Resources
Parkinson's disease 2	PRKN*	Prkn*	9 models	Alliance of Genome Resources
Parkinson's disease 4	SNCA*	Snca*	1 model	Alliance of Genome Resources
Parkinson's disease 6	PINK1*	Pink1*	4 models	Alliance of Genome Resources
Parkinson's disease 7	PARK7*	Park7*	4 models	Alliance of Genome Resources
Parkinson's disease 8	LRRK2*	Lrrk2*	1 model	Alliance of Genome Resources
paroxysmal nonkinesigenic dyskinesia 1	PNKD*	Pnkd*	2 models	Alliance of Genome Resources
PCWH syndrome	SOX10*	Sox10*	1 model	Alliance of Genome Resources
Pelger-Huet anomaly	LBR*	Lbr*	1 model	Alliance of Genome Resources
Pendred Syndrome	SLC26A4*	Slc26a4*	4 models	Alliance of Genome Resources
permanent neonatal diabetes mellitus	KCNJ11*	Kcnj11*	3 models	Alliance of Genome Resources
permanent neonatal diabetes mellitus	INS*	Ins2*, Ins1	1 model	Alliance of Genome Resources
peroxisomal acyl-CoA oxidase deficiency	ACOX1*	Acox1*	1 model	Alliance of Genome Resources
Perrault syndrome	CLPP*	Clpp*	2 models	Alliance of Genome Resources
Pfeiffer syndrome	FGFR1*	Fgfr1*	2 models	Alliance of Genome Resources
Pfeiffer syndrome	FGFR2*	Fgfr2*	1 model	Alliance of Genome Resources
PHARC syndrome	ABHD12*	Abhd12*	1 model	Alliance of Genome Resources
piebaldism	KIT*	Kit*	1 model	Alliance of Genome Resources
Pierpont syndrome	TBL1XR1*	Tbl1xr1*	1 model	Alliance of Genome Resources
Pierson syndrome	LAMB2*	Lamb2*	2 models	Alliance of Genome Resources
Pitt-Hopkins syndrome	TCF4*	Tcf4*	6 models	Alliance of Genome Resources
platelet-type bleeding disorder 10	CD36*	Cd36*	1 model	Alliance of Genome Resources
platelet-type bleeding disorder 16	ITGA2B*	Itga2b*	1 model	Alliance of Genome Resources
platelet-type bleeding disorder 16	ITGB3*	Itgb3*	1 model	Alliance of Genome Resources
platelet-type bleeding disorder 8	P2RY12*	P2ry12*	2 models	Alliance of Genome Resources
polycystic kidney disease 1	PKD1*	Pkd1*	27 models	Alliance of Genome Resources
polycystic kidney disease 2	PKD2*	Pkd2*	7 models	Alliance of Genome Resources
polycystic kidney disease 4	PKHD1*	Pkhd1*	2 models	Alliance of Genome Resources
pontocerebellar hypoplasia type 14	PPIL1*	Ppil1*	2 models	Alliance of Genome Resources
popliteal pterygium syndrome	IRF6*	Irf6*	2 models	Alliance of Genome Resources
primary autosomal recessive microcephaly 2 with or without cortical malformations	WDR62*	Wdr62*	1 model	Alliance of Genome Resources
primary ovarian insufficiency 12	SYCE1*	Syce1*	1 model	Alliance of Genome Resources
primary ovarian insufficiency 13	MSH5*	Msh5*	1 model	Alliance of Genome Resources
primary ovarian insufficiency 16	BNC1*	Bnc1*	2 models	Alliance of Genome Resources
primary ovarian insufficiency 19	HSF2BP*	Hsf2bp*	1 model	Alliance of Genome Resources
progeria	LMNA*	Lmna*	14 models	Alliance of Genome Resources
progressive familial heart block type IA	SCN5A*	Scn5a*	2 models	Alliance of Genome Resources
progressive myoclonus epilepsy 1B	PRICKLE1*	Prickle1*	1 model	Alliance of Genome Resources
progressive pseudorheumatoid arthropathy of childhood	CCN6*	Ccn6*	3 models	Alliance of Genome Resources
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	FLVCR2*	Flvcr2*	1 model	Alliance of Genome Resources
pseudoachondroplasia	COMP*	Comp*	2 models	Alliance of Genome Resources
pseudoxanthoma elasticum	ABCC6*	Abcc6*	2 models	Alliance of Genome Resources
purine nucleoside phosphorylase deficiency	PNP*	Pnp*, Pnp2	5 models	Alliance of Genome Resources
renal coloboma syndrome	PAX2*	Pax2*	6 models	Alliance of Genome Resources
retinitis pigmentosa 1	RP1*	Rp1*	2 models	Alliance of Genome Resources
retinitis pigmentosa 11	PRPF31*	Prpf31*	1 model	Alliance of Genome Resources
retinitis pigmentosa 12	CRB1*	Crb1*	1 model	Alliance of Genome Resources
retinitis pigmentosa 13	PRPF8*	Prpf8*	2 models	Alliance of Genome Resources
retinitis pigmentosa 14	TULP1*	Tulp1*	1 model	Alliance of Genome Resources
retinitis pigmentosa 18	PRPF3*	Prpf3*	2 models	Alliance of Genome Resources
retinitis pigmentosa 19	ABCA4*	Abca4*	2 models	Alliance of Genome Resources
retinitis pigmentosa 20	RPE65*	Rpe65*	1 model	Alliance of Genome Resources
retinitis pigmentosa 26	CERKL*	Cerkl*	1 model	Alliance of Genome Resources
retinitis pigmentosa 28	FAM161A*	Fam161a*	1 model	Alliance of Genome Resources
retinitis pigmentosa 4	RHO*	Rho*	15 models	Alliance of Genome Resources
retinitis pigmentosa 40	PDE6B*	Pde6b*	9 models	Alliance of Genome Resources
retinitis pigmentosa 41	PROM1*	Prom1*	2 models	Alliance of Genome Resources
retinitis pigmentosa 56	IMPG2*	Impg2*	2 models	Alliance of Genome Resources
retinitis pigmentosa 59	DHDDS*	Dhdds*	1 model	Alliance of Genome Resources
retinitis pigmentosa 7	PRPH2*	Prph2*	3 models	Alliance of Genome Resources
retinitis pigmentosa 77	REEP6*	Reep6*	1 model	Alliance of Genome Resources
retinitis pigmentosa with or without situs inversus	ARL2BP*	Arl2bp*	1 model	Alliance of Genome Resources
rhizomelic chondrodysplasia punctata type 1	PEX7*	Pex7*	2 models	Alliance of Genome Resources
rhizomelic chondrodysplasia punctata type 2	GNPAT*	Gnpat*	1 model	Alliance of Genome Resources
rhizomelic chondrodysplasia punctata type 3	AGPS*	Agps*	1 model	Alliance of Genome Resources
RIDDLE syndrome	RNF168*	Rnf168*	2 models	Alliance of Genome Resources
rigid spine muscular dystrophy 1	SELENON*	Selenon*	1 model	Alliance of Genome Resources
rippling muscle disease 2	CAV3*	Cav3*	3 models	Alliance of Genome Resources
Rubinstein-Taybi syndrome	CREBBP*	Crebbp*	4 models	Alliance of Genome Resources
Saethre-Chotzen syndrome	TWIST1*	Twist1*	8 models	Alliance of Genome Resources
Sandhoff disease	HEXB*	Hexb*	9 models	Alliance of Genome Resources
scalp-ear-nipple syndrome	KCTD1*	Kctd1*	2 models	Alliance of Genome Resources
Schimke immuno-osseous dysplasia	SMARCAL1*	Smarcal1*	1 model	Alliance of Genome Resources
Schnyder corneal dystrophy	UBIAD1*	Ubiad1*	2 models	Alliance of Genome Resources
Schwartz-Jampel syndrome 1	HSPG2*	Hspg2*	6 models	Alliance of Genome Resources
sclerosteosis 1	SOST*	Sost*	1 model	Alliance of Genome Resources
sclerosteosis 2	LRP4*	Lrp4*	2 models	Alliance of Genome Resources
septooptic dysplasia	HESX1*	Hesx1*	3 models	Alliance of Genome Resources
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive	RAG2*	Rag2*	1 model	Alliance of Genome Resources
severe combined immunodeficiency with sensitivity to ionizing radiation	DCLRE1C*	Dclre1c*	2 models	Alliance of Genome Resources
short-rib thoracic dysplasia 7 with or without polydactyly	WDR35*	Wdr35*	1 model	Alliance of Genome Resources
short-rib thoracic dysplasia 9 with or without polydactyly	IFT140*	Ift140*	1 model	Alliance of Genome Resources
SHORT syndrome	PIK3R1*	Pik3r1*	1 model	Alliance of Genome Resources
Silverman-Handmaker type dyssegmental dysplasia	HSPG2*	Hspg2*	2 models	Alliance of Genome Resources
sitosterolemia	ABCG8*	Abcg8*	1 model	Alliance of Genome Resources
Smith-McCort dysplasia 2	RAB33B*	Rab33b*	2 models	Alliance of Genome Resources
Sorsby's fundus dystrophy	TIMP3*	Timp3*	2 models	Alliance of Genome Resources
Sotos syndrome 2	NFIX*	Nfix*	1 model	Alliance of Genome Resources
spastic tetraplegia, thin corpus callosum, and progressive microcephaly	SLC1A4*	Slc1a4*	1 model	Alliance of Genome Resources
spermatogenic failure 19	CFAP43*	Cfap43*	2 models	Alliance of Genome Resources
spermatogenic failure 20	CFAP44*	Cfap44*	1 model	Alliance of Genome Resources
spermatogenic failure 24	CFAP69*	Cfap69*	2 models	Alliance of Genome Resources
spermatogenic failure 31	PMFBP1*	Pmfbp1*	1 model	Alliance of Genome Resources
spermatogenic failure 39	DNAH17*	Dnah17*	1 model	Alliance of Genome Resources
spermatogenic failure 40	CFAP65*	Cfap65*	1 model	Alliance of Genome Resources
spermatogenic failure 46	DNAH8*	Dnah8*	1 model	Alliance of Genome Resources
spermatogenic failure 47	DZIP1*	Dzip1*	1 model	Alliance of Genome Resources
spinocerebellar ataxia 1	ATXN1*	Atxn1*	1 model	Alliance of Genome Resources
spinocerebellar ataxia 14	PRKCG*	Prkcg*	2 models	Alliance of Genome Resources
spinocerebellar ataxia 17	TBP*	Tbp*	1 model	Alliance of Genome Resources
spinocerebellar ataxia 2	ATXN2*	Atxn2*	1 model	Alliance of Genome Resources
spinocerebellar ataxia 28	AFG3L2*	Afg3l2*	1 model	Alliance of Genome Resources
spinocerebellar ataxia 5	SPTBN2*	Sptbn2*	2 models	Alliance of Genome Resources
spinocerebellar ataxia 6	CACNA1A*	Cacna1a*	3 models	Alliance of Genome Resources
spinocerebellar ataxia 7	ATXN7*	Atxn7*	5 models	Alliance of Genome Resources
spinocerebellar ataxia with axonal neuropathy 1	TDP1*	Tdp1*	1 model	Alliance of Genome Resources
split hand-foot malformation 1	DLX5*	Dlx5*	2 models	Alliance of Genome Resources
spondylocarpotarsal synostosis syndrome	FLNB*	Flnb*	2 models	Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Pakistani type	PAPSS2*	Papss2*	1 model	Alliance of Genome Resources
spondyloepiphyseal dysplasia congenita	COL2A1*	Col2a1*	7 models	Alliance of Genome Resources
STING-associated vasculopathy with onset in infancy	STING1*	Sting1*	1 model	Alliance of Genome Resources
Stormorken syndrome	STIM1*	Stim1*	1 model	Alliance of Genome Resources
Tatton-Brown-Rahman syndrome	DNMT3A*	Dnmt3a*	2 models	Alliance of Genome Resources
Tay-Sachs disease	HEXA*	Hexa*	3 models	Alliance of Genome Resources
T-cell immunodeficiency, congenital alopecia, and nail dystrophy	FOXN1*	Foxn1*	4 models	Alliance of Genome Resources
Teebi hypertelorism syndrome 1	SPECC1L*	Specc1l*	2 models	Alliance of Genome Resources
thiamine-responsive megaloblastic anemia syndrome	SLC19A2*	Slc19a2*	2 models	Alliance of Genome Resources
tibial muscular dystrophy	TTN*	Ttn*	1 model	Alliance of Genome Resources
Tietz syndrome	MITF*	Mitf*	14 models	Alliance of Genome Resources
Timothy syndrome	CACNA1C*	Cacna1c*	1 model	Alliance of Genome Resources
TNF receptor associated periodic syndrome	TNFRSF1A*	Tnfrsf1a*	3 models	Alliance of Genome Resources
torsion dystonia 1	TOR1A*	Tor1a*	4 models	Alliance of Genome Resources
torsion dystonia 6	THAP1*	Thap1*	2 models	Alliance of Genome Resources
Townes-Brocks syndrome	SALL1*	Sall1*	3 models	Alliance of Genome Resources
Treacher Collins syndrome	TCOF1*	Tcof1*	2 models	Alliance of Genome Resources
trichorhinophalangeal syndrome type I	TRPS1*	Trps1*	1 model	Alliance of Genome Resources
Troyer syndrome	SPART*	Spart*	1 model	Alliance of Genome Resources
tuberous sclerosis	TSC1*	Tsc1*	10 models	Alliance of Genome Resources
tuberous sclerosis	TSC2*	Tsc2*	9 models	Alliance of Genome Resources
tubular aggregate myopathy 1	STIM1*	Stim1*	2 models	Alliance of Genome Resources
tubular aggregate myopathy 2	ORAI1*	Orai1*	1 model	Alliance of Genome Resources
typical adult-onset autosomal dominant demyelinating leukodystrophy	LMNB1*	Lmnb1*	1 model	Alliance of Genome Resources
ulnar-mammary syndrome	TBX3*	Tbx3*	1 model	Alliance of Genome Resources
urofacial syndrome	HPSE2*	Hpse2*	1 model	Alliance of Genome Resources
Usher syndrome type 1	MYO7A*	Myo7a*	13 models	Alliance of Genome Resources
Usher syndrome type 1C	USH1C*	Ush1c*	6 models	Alliance of Genome Resources
Usher syndrome type 1D	CDH23*	Cdh23*	11 models	Alliance of Genome Resources
Usher syndrome type 1F	PCDH15*	Pcdh15*	3 models	Alliance of Genome Resources
Usher syndrome type 1G	USH1G*	Ush1g*	3 models	Alliance of Genome Resources
Usher syndrome type 2A	USH2A*	Ush2a*	1 model	Alliance of Genome Resources
Usher syndrome type 2C	ADGRV1*	Adgrv1*	3 models	Alliance of Genome Resources
Usher syndrome type 2D	WHRN*	Whrn*	2 models	Alliance of Genome Resources
Usher syndrome type 3A	CLRN1*	Clrn1*	3 models	Alliance of Genome Resources
vascular type Ehlers-Danlos syndrome	COL3A1*	Col3a1*	2 models	Alliance of Genome Resources
vestibular schwannomatosis	NF2*	Nf2*	1 model	Alliance of Genome Resources
Waardenburg syndrome type 1	PAX3*	Pax3*	6 models	Alliance of Genome Resources
Waardenburg syndrome type 2A	MITF*	Mitf*	14 models	Alliance of Genome Resources
Waardenburg syndrome type 4A	EDNRB*	Ednrb*	2 models	Alliance of Genome Resources
Waardenburg syndrome type 4B	EDN3*	Edn3*	3 models	Alliance of Genome Resources
Waardenburg syndrome type 4C	SOX10*	Sox10*	1 model	Alliance of Genome Resources
Walker-Warburg syndrome	POMGNT1*	Pomgnt1*	2 models	Alliance of Genome Resources
Warburg micro syndrome 3	RAB18*	Rab18*	2 models	Alliance of Genome Resources
Warburg micro syndrome 4	TBC1D20*	Tbc1d20*	2 models	Alliance of Genome Resources
Weaver syndrome	EZH2*	Ezh2*	3 models	Alliance of Genome Resources
Weill-Marchesani syndrome	ADAMTS17*	Adamts17*	1 model	Alliance of Genome Resources
Weill-Marchesani syndrome	ADAMTS10*	Adamts10*	2 models	Alliance of Genome Resources
Weill-Marchesani syndrome	FBN1*	Fbn1*	2 models	Alliance of Genome Resources
Werner syndrome	WRN*	Wrn*	2 models	Alliance of Genome Resources
WHIM syndrome 1	CXCR4*	Cxcr4*	1 model	Alliance of Genome Resources
Williams-Beuren syndrome	EIF4H*	Eif4h*	3 models	Alliance of Genome Resources
Wolcott-Rallison syndrome	EIF2AK3*	Eif2ak3*	2 models	Alliance of Genome Resources
Wolfram syndrome 1	WFS1*	Wfs1*	6 models	Alliance of Genome Resources
Wolman disease	LIPA*	Lipa*	1 model	Alliance of Genome Resources
xanthinuria type II	MOCOS*	Mocos*	1 model	Alliance of Genome Resources
xeroderma pigmentosum group A	XPA*	Xpa*	2 models	Alliance of Genome Resources
xeroderma pigmentosum group B	ERCC3*	Ercc3*	1 model	Alliance of Genome Resources
xeroderma pigmentosum group C	XPC*	Xpc*	1 model	Alliance of Genome Resources
xeroderma pigmentosum group D	ERCC2*	Ercc2*	1 model	Alliance of Genome Resources
xeroderma pigmentosum group E	DDB2*	Ddb2*	4 models	Alliance of Genome Resources
xeroderma pigmentosum group F	ERCC4*	Ercc4*	1 model	Alliance of Genome Resources
xeroderma pigmentosum group G	ERCC5*	Ercc5*	4 models	Alliance of Genome Resources
xeroderma pigmentosum variant type	POLH*	Polh*	3 models	Alliance of Genome Resources
Xia-Gibbs Syndrome	AHDC1*	Ahdc1*	1 model	Alliance of Genome Resources
Yunis-Varon syndrome	FIG4*	Fig4*	1 model	Alliance of Genome Resources
Zaki syndrome	WLS*	Wls*	2 models	Alliance of Genome Resources
ZTTK syndrome	SON*	Son*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	CTF1	Ctf1*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	SLC2A9	Slc2a9*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	SIRT3	Sirt3*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	PRKCI	Prkci*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	PPARG	Pparg*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	NEIL1	Neil1*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	LEP	Lep*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	GUCY2C	Gucy2c*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	ACSM3	Acsm3*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome 1	TP53INP1	Trp53inp1*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome 1	LEP	Lep*	3 models	Alliance of Genome Resources
			age related macular degeneration	CD46	Cd46*	1 model	Alliance of Genome Resources
			age related macular degeneration	PPARGC1A	Ppargc1a*	1 model	Alliance of Genome Resources
			age related macular degeneration	CCR2	Ccr2*	1 model	Alliance of Genome Resources
			age related macular degeneration	CCL2, CCL7, CCL8, CCL11, CCL13	Ccl2*, Ccl7, Ccl8, Ccl11, Ccl12	3 models	Alliance of Genome Resources
			age related macular degeneration 1	CRYBA1	Cryba1*	1 model	Alliance of Genome Resources
			age related macular degeneration 1	VLDLR	Vldlr*	1 model	Alliance of Genome Resources
			amyotrophic lateral sclerosis type 1	SNCG	Sncg*	1 model	Alliance of Genome Resources
			amyotrophic lateral sclerosis type 1	SOD2	Sod2*	1 model	Alliance of Genome Resources
			amyotrophic lateral sclerosis type 1	VEGFA	Vegfa*	1 model	Alliance of Genome Resources
			amyotrophic lateral sclerosis type 1	VPS54	Vps54*	1 model	Alliance of Genome Resources
			ARC syndrome	VIPAS39	Vipas39*	1 model	Alliance of Genome Resources
			ARC syndrome	VPS33B	Vps33b*	1 model	Alliance of Genome Resources
			arrhythmogenic right ventricular dysplasia 5	RPSA, RPSA2	Rpsa*	1 model	Alliance of Genome Resources
			asphyxiating thoracic dystrophy 1	IFT140	Ift140*	1 model	Alliance of Genome Resources
			asphyxiating thoracic dystrophy 3	IFT80	Ift80*	1 model	Alliance of Genome Resources
			atrichia with papular lesions	ODC1	Odc1*	1 model	Alliance of Genome Resources
			autosomal dominant disease	FGFR3	Fgfr3*	1 model	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder	AUTS2	Auts2*	1 model	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder	ZBTB18	Zbtb18*	1 model	Alliance of Genome Resources
			autosomal dominant intellectual developmental disorder	MBD5	Mbd5*	1 model	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 25	TRPV4	Trpv4*	1 model	Alliance of Genome Resources
			autosomal dominant nonsyndromic deafness 4A	CEACAM16	Ceacam16*	1 model	Alliance of Genome Resources
			autosomal dominant polycystic kidney disease	BICC1	Bicc1*	1 model	Alliance of Genome Resources
			autosomal dominant polycystic kidney disease	NPHP3	Nphp3*	3 models	Alliance of Genome Resources
			autosomal dominant polycystic kidney disease	MYC	Myc*	1 model	Alliance of Genome Resources
			autosomal dominant tubulointerstitial kidney disease	UMOD	Umod*	2 models	Alliance of Genome Resources
			autosomal recessive Alport syndrome	MPV17	Mpv17*	1 model	Alliance of Genome Resources
			autosomal recessive congenital ichthyosis 4B	CST6	Cst6*	1 model	Alliance of Genome Resources
			autosomal recessive congenital ichthyosis 4B	PRSS8	Prss8*	1 model	Alliance of Genome Resources
			autosomal recessive congenital ichthyosis 4B	PIGA	Piga*	2 models	Alliance of Genome Resources
			autosomal recessive disease	PPP1R13L	Ppp1r13l*	1 model	Alliance of Genome Resources
			autosomal recessive hypophosphatemic rickets	DMP1	Dmp1*	1 model	Alliance of Genome Resources
			autosomal recessive intellectual developmental disorder	CRBN	Crbn*	2 models	Alliance of Genome Resources
			autosomal recessive nonsyndromic deafness	ATP6V1B1	Atp6v1b1*	1 model	Alliance of Genome Resources
			autosomal recessive osteopetrosis 1	CCDC154	Ccdc154*	1 model	Alliance of Genome Resources
			autosomal recessive polycystic kidney disease	DZIP1L	Dzip1l*	2 models	Alliance of Genome Resources
			autosomal recessive polycystic kidney disease	ARL3	Arl3*	1 model	Alliance of Genome Resources
			autosomal recessive polycystic kidney disease	BICC1	Bicc1*	6 models	Alliance of Genome Resources
			autosomal recessive polycystic kidney disease	CYS1	Cys1*	5 models	Alliance of Genome Resources
			autosomal recessive polycystic kidney disease	IFT88	Ift88*	4 models	Alliance of Genome Resources
			autosomal recessive polycystic kidney disease	NEK1	Nek1*	2 models	Alliance of Genome Resources
			autosomal recessive polycystic kidney disease	NEK8	Nek8*	1 model	Alliance of Genome Resources
			autosomal recessive polycystic kidney disease	PKD1	Pkd1*	2 models	Alliance of Genome Resources
			autosomal recessive polycystic kidney disease	SCLT1	Sclt1*	1 model	Alliance of Genome Resources
			autosomal recessive polycystic kidney disease	TSC1	Tsc1*	1 model	Alliance of Genome Resources
			autosomal recessive pseudohypoaldosteronism type 1	SCNN1G	Scnn1g*	1 model	Alliance of Genome Resources
			autosomal recessive pseudohypoaldosteronism type 1	SCNN1B	Scnn1b*	1 model	Alliance of Genome Resources
			autosomal recessive Robinow syndrome	PRICKLE1	Prickle1*	2 models	Alliance of Genome Resources
			Axenfeld-Rieger syndrome type 1	HMGN2	Hmgn2*	1 model	Alliance of Genome Resources
			Axenfeld-Rieger syndrome type 3	BMP4	Bmp4*	1 model	Alliance of Genome Resources
			Bardet-Biedl syndrome	TBC1D32	Tbc1d32*	1 model	Alliance of Genome Resources
			beta thalassemia	KLF1	Klf1*	1 model	Alliance of Genome Resources
			blepharophimosis, ptosis, and epicanthus inversus syndrome		E330023G01Rik*	1 model
Bloom syndrome	NSMCE2	Nsmce2*	1 model	Alliance of Genome Resources
Canavan disease	SOD2	Sod2*	1 model	Alliance of Genome Resources
Caroli syndrome	PKHD1	Pkhd1*	1 model	Alliance of Genome Resources
cataract 2 multiple types	CRYGD	Crygd*, Cryge, Crygf	1 model	Alliance of Genome Resources
central conducting lymphatic anomaly	MDFIC	Mdfic*	1 model	Alliance of Genome Resources
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome	CA8	Car8*	1 model	Alliance of Genome Resources
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome	ATP8A2	Atp8a2*	4 models	Alliance of Genome Resources
Charlevoix-Saguenay spastic ataxia	ANKFY1	Ankfy1*	1 model	Alliance of Genome Resources
chromosome 1q41-q42 deletion syndrome	TP53BP2	Trp53bp2*	3 models	Alliance of Genome Resources
cleidocranial dysplasia	CBFB	Cbfb*	1 model	Alliance of Genome Resources
cleidocranial dysplasia		Ccd*	2 models
Coffin-Siris syndrome	ARID1A	Arid1a*	2 models	Alliance of Genome Resources
common variable immunodeficiency	ICOS	Icos*	2 models	Alliance of Genome Resources
common variable immunodeficiency	NFKB2	Nfkb2*	3 models	Alliance of Genome Resources
congenital amegakaryocytic thrombocytopenia	MPL	Mpl*	1 model	Alliance of Genome Resources
congenital central hypoventilation syndrome	TLX3	Tlx3*	1 model	Alliance of Genome Resources
congenital generalized lipodystrophy type 2	PPARG	Pparg*	2 models	Alliance of Genome Resources
cystic fibrosis	SCNN1B	Scnn1b*	1 model	Alliance of Genome Resources
desmosterolosis	DHCR24	Dhcr24*	2 models	Alliance of Genome Resources
DiGeorge syndrome	DICER1	Dicer1*	1 model	Alliance of Genome Resources
DiGeorge syndrome	ALDH1A2	Aldh1a2*	1 model	Alliance of Genome Resources
DiGeorge syndrome		b2b954Clo*	1 model
DiGeorge syndrome		b2b1941Clo*	1 model
DiGeorge syndrome		b2b2696Clo*	1 model
DiGeorge syndrome	CHRD	Chrd*	1 model	Alliance of Genome Resources
DiGeorge syndrome	CRKL	Crkl*	1 model	Alliance of Genome Resources
DiGeorge syndrome	DOCK1	Dock1*	1 model	Alliance of Genome Resources
DiGeorge syndrome	FGF8	Fgf8*	1 model	Alliance of Genome Resources
DiGeorge syndrome	FOXN1	Foxn1*	1 model	Alliance of Genome Resources
DiGeorge syndrome	HOXA3	Hoxa3*	1 model	Alliance of Genome Resources
DiGeorge syndrome	KAT6A	Kat6a*	2 models	Alliance of Genome Resources
DiGeorge syndrome	NDST1	Ndst1*	1 model	Alliance of Genome Resources
DiGeorge syndrome	PLXND1	Plxnd1*	2 models	Alliance of Genome Resources
DiGeorge syndrome		pta*	1 model
DiGeorge syndrome	TGFBR2	Tgfbr2*	1 model	Alliance of Genome Resources
DiGeorge syndrome	VEGFA	Vegfa*	2 models	Alliance of Genome Resources
DiGeorge syndrome	ZNF366	Zfp366*	1 model	Alliance of Genome Resources
dilated cardiomyopathy 1A	DOT1L	Dot1l*	1 model	Alliance of Genome Resources
EEC syndrome	ARHGAP29	Arhgap29*	1 model	Alliance of Genome Resources
Ehlers-Danlos syndrome classic type 1	COL5A2	Col5a2*	1 model	Alliance of Genome Resources
Ehlers-Danlos syndrome classic type 1	LUM	Lum*	2 models	Alliance of Genome Resources
enhanced S-cone syndrome	NRL	Nrl*	1 model	Alliance of Genome Resources
epidermolysis bullosa simplex Dowling-Meara type	KRT14	Krt14*	3 models	Alliance of Genome Resources
epidermolysis bullosa simplex Dowling-Meara type	KRT5	Krt5*	1 model	Alliance of Genome Resources
familial adenomatous polyposis	APC	Apc*	10 models	Alliance of Genome Resources
familial medullary thyroid carcinoma	PRLR	Prlr*	1 model	Alliance of Genome Resources
fibrodysplasia ossificans progressiva	BMP4	Bmp4*	1 model	Alliance of Genome Resources
Fraser syndrome	GRIP1	Grip1*	2 models	Alliance of Genome Resources
Fraser syndrome	FRAS1	Fras1*	6 models	Alliance of Genome Resources
Fraser syndrome	FREM1	Frem1*	4 models	Alliance of Genome Resources
Fraser syndrome	FREM2	Frem2*	5 models	Alliance of Genome Resources
frontotemporal dementia 2	TARDBP	Tardbp*	1 model	Alliance of Genome Resources
Gitelman syndrome	STK39	Stk39*	3 models	Alliance of Genome Resources
Gitelman syndrome	WNK4	Wnk4*	1 model	Alliance of Genome Resources
glycine encephalopathy	SLC6A9	Slc6a9*	1 model	Alliance of Genome Resources
glycogen storage disease V	HIF1A	Hif1a*	1 model	Alliance of Genome Resources
glycogen storage disease VII	HIF1A	Hif1a*	1 model	Alliance of Genome Resources
hereditary multiple exostoses	EXT2	Ext2*	1 model	Alliance of Genome Resources
hereditary spherocytosis type 1	ADD2	Add2*	1 model	Alliance of Genome Resources
hereditary spherocytosis type 1	EPB42	Epb42*	1 model	Alliance of Genome Resources
hereditary spherocytosis type 1	SPTA1	Spta1*	3 models	Alliance of Genome Resources
hereditary spherocytosis type 4	SLC4A1	Slc4a1*	1 model	Alliance of Genome Resources
Hermansky-Pudlak syndrome	BLOC1S4	Bloc1s4*	2 models	Alliance of Genome Resources
Hermansky-Pudlak syndrome	KXD1	Kxd1*	1 model	Alliance of Genome Resources
Hermansky-Pudlak syndrome	RABGGTA	Rabggta*	1 model	Alliance of Genome Resources
Hermansky-Pudlak syndrome	SLC7A11	Slc7a11*	1 model	Alliance of Genome Resources
Hermansky-Pudlak syndrome	VPS33A	Vps33a*	1 model	Alliance of Genome Resources
Hermansky-Pudlak syndrome 1	RAB27A	Rab27a*	1 model	Alliance of Genome Resources
Hermansky-Pudlak syndrome 1	AP3D1	Ap3d1*	1 model	Alliance of Genome Resources
Hermansky-Pudlak syndrome 2	AP3D1	Ap3d1*	1 model	Alliance of Genome Resources
Holt-Oram syndrome		vsd*	2 models
hydrolethalus syndrome	KIF7	Kif7*	1 model	Alliance of Genome Resources
hyperphosphatemic familial tumoral calcinosis	KL	Kl*	2 models	Alliance of Genome Resources
hyperphosphatemic familial tumoral calcinosis	GALNT3	Galnt3*	2 models	Alliance of Genome Resources
hypotrichosis 4	HR	Hr*	1 model	Alliance of Genome Resources
ichthyosis vulgaris	LBR	Lbr*	1 model	Alliance of Genome Resources
idiopathic pulmonary fibrosis	FOSL2	Fosl2*	1 model	Alliance of Genome Resources
idiopathic pulmonary fibrosis	TNF	Tnf*	1 model	Alliance of Genome Resources
junctional epidermolysis bullosa Herlitz type	LAMB3	Lamb3*	2 models	Alliance of Genome Resources
junctional epidermolysis bullosa Herlitz type	ITGA6	Itga6*	1 model	Alliance of Genome Resources
junctional epidermolysis bullosa Herlitz type	LAMC2	Lamc2*	1 model	Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type	LAMC2	Lamc2*	1 model	Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type	LAMA3	Lama3*	1 model	Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type	ITGB4	Itgb4*	1 model	Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type	LAMB3	Lamb3*	1 model	Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type	COL17A1	Col17a1*	1 model	Alliance of Genome Resources
juvenile glaucoma	PAX6	Pax6*	1 model	Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 1	FGF10	Fgf10*	1 model	Alliance of Genome Resources
Lafora disease	EPM2A	Epm2a*	1 model	Alliance of Genome Resources
Lafora disease	NHLRC1	Nhlrc1*	3 models	Alliance of Genome Resources
leukocyte adhesion deficiency 3	RASGRP2	Rasgrp2*	1 model	Alliance of Genome Resources
leukoencephalopathy with vanishing white matter	EIF2B4	Eif2b4*	4 models	Alliance of Genome Resources
Loeys-Dietz syndrome	TGFBR1	Tgfbr1*	1 model	Alliance of Genome Resources
Loeys-Dietz syndrome	TGFB2	Tgfb2*	2 models	Alliance of Genome Resources
Loeys-Dietz syndrome	TGFBR2	Tgfbr2*	1 model	Alliance of Genome Resources
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HADHA	Hadha*	1 model	Alliance of Genome Resources
lysosomal acid lipase deficiency	LIPA	Lipa*	1 model	Alliance of Genome Resources
maturity-onset diabetes of the young	INS	Ins2*, Ins1	3 models	Alliance of Genome Resources
maturity-onset diabetes of the young	MAFA	Mafa*	1 model	Alliance of Genome Resources
maturity-onset diabetes of the young	TGM2	Tgm2*	1 model	Alliance of Genome Resources
maturity-onset diabetes of the young	PDX1	Pdx1*	1 model	Alliance of Genome Resources
microvillus inclusion disease	CDC42	Cdc42*	1 model	Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome	MNT	Mnt*	1 model	Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome	HIC1	Hic1*	1 model	Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome	YWHAE	Ywhae*	2 models	Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome	DPH1	Dph1*	3 models	Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome	PAFAH1B1	Pafah1b1*	5 models	Alliance of Genome Resources
mitochondrial DNA depletion syndrome 3	MPV17	Mpv17*	1 model	Alliance of Genome Resources
Muir-Torre syndrome	FHIT	Fhit*	1 model	Alliance of Genome Resources
multiple synostoses syndrome	GDF5	Gdf5*	1 model	Alliance of Genome Resources
multiple synostoses syndrome	FGF9	Fgf9*	2 models	Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1	FKRP	Fkrp*	2 models	Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1	B4GAT1	B4gat1*	1 model	Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1	LARGE1	Large1*	3 models	Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1	FKTN	Fktn*	3 models	Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1	POMGNT1	Pomgnt1*	1 model	Alliance of Genome Resources
myofibrillar myopathy 1	LDB3	Ldb3*	1 model	Alliance of Genome Resources
nail-patella syndrome	LDB1	Ldb1*	1 model	Alliance of Genome Resources
nephronophthisis	AHI1	Ahi1*	2 models	Alliance of Genome Resources
nephronophthisis	CNTRL	Cntrl*	1 model	Alliance of Genome Resources
nephronophthisis	SDCCAG8	Sdccag8*	1 model	Alliance of Genome Resources
nephronophthisis	WWTR1	Wwtr1*	1 model	Alliance of Genome Resources
neurodegeneration with brain iron accumulation 2a		gnd*	1 model
neurodegeneration with brain iron accumulation 2a		inad*	1 model
neurodegeneration with brain iron accumulation 2a		nad*	1 model
neurogenic-type arthrogryposis multiplex congenita-2		pma*	1 model
neuronal ceroid lipofuscinosis 3	CLCN6	Clcn6*	1 model	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3	PPT1	Ppt1*	1 model	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3	CLCN3	Clcn3*	1 model	Alliance of Genome Resources
Noonan syndrome with multiple lentigines	PTPN11	Ptpn11*	3 models	Alliance of Genome Resources
ocular albinism with sensorineural deafness	MITF	Mitf*	14 models	Alliance of Genome Resources
oculocutaneous albinism	OCA2	Oca2*	1 model	Alliance of Genome Resources
oculocutaneous albinism	SLC45A2	Slc45a2*	7 models	Alliance of Genome Resources
osteogenesis imperfecta type 2	SMPD3	Smpd3*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 3	SMPD3	Smpd3*	1 model	Alliance of Genome Resources
osteogenesis imperfecta type 5	SUCO	Suco*	1 model	Alliance of Genome Resources
PCWH syndrome	MPZ	Mpz*	1 model	Alliance of Genome Resources
Pendred Syndrome	FOXI1	Foxi1*	1 model	Alliance of Genome Resources
Pierson syndrome	TNS2	Tns2*	1 model	Alliance of Genome Resources
polycystic liver disease	UCP2	Ucp2*	1 model	Alliance of Genome Resources
polycystic liver disease	PRKCSH	Prkcsh*	1 model	Alliance of Genome Resources
poor metabolism of thiopurines	TPMT	Tpmt*	1 model	Alliance of Genome Resources
popliteal pterygium syndrome	RIPK4	Ripk4*	1 model	Alliance of Genome Resources
progeria	ZMPSTE24	Zmpste24*	3 models	Alliance of Genome Resources
progeria	SIRT6	Sirt6*	1 model	Alliance of Genome Resources
progeria	VCPIP1	Vcpip1*	1 model	Alliance of Genome Resources
pyridoxine-dependent epilepsy	ALDH7A1	Aldh7a1*	1 model	Alliance of Genome Resources
recessive dystrophic epidermolysis bullosa	GRIP1	Grip1*	1 model	Alliance of Genome Resources
recessive dystrophic epidermolysis bullosa	COL7A1	Col7a1*	5 models	Alliance of Genome Resources
right atrial isomerism	CFC1, CFC1B	Cfc1*	2 models	Alliance of Genome Resources
right atrial isomerism	ACVR2B	Acvr2b*	1 model	Alliance of Genome Resources
Robinow syndrome	WNT5A	Wnt5a*	1 model	Alliance of Genome Resources
Robinow syndrome		b2b3077Clo*	1 model
Robinow syndrome	DNAAF4	Dnaaf4*	1 model	Alliance of Genome Resources
sarcosinemia		sar*	1 model
Seckel syndrome	CPAP	Cpap*	1 model	Alliance of Genome Resources
Seckel syndrome	CEP63	Cep63*	1 model	Alliance of Genome Resources
Seckel syndrome	ATRIP	Atrip*	1 model	Alliance of Genome Resources
Seckel syndrome	ATR	Atr*	1 model	Alliance of Genome Resources
Senior-Loken syndrome	TMEM218	Tmem218*	1 model	Alliance of Genome Resources
severe combined immunodeficiency 104	JAK3	Jak3*	2 models	Alliance of Genome Resources
severe combined immunodeficiency 104	CORO1A	Coro1a*	4 models	Alliance of Genome Resources
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive	PRKDC	Prkdc*	1 model	Alliance of Genome Resources
sickle cell anemia	SPTA1	Spta1*	1 model	Alliance of Genome Resources
Smith-McCort dysplasia	DYM	Dym*	1 model	Alliance of Genome Resources
SOST-related sclerosing bone dysplasia	SOST	Sost*	1 model	Alliance of Genome Resources
spinocerebellar ataxia 27A	FGF14	Fgf14*	1 model	Alliance of Genome Resources
split hand-foot malformation 1	DLX6	Dlx6*	2 models	Alliance of Genome Resources
spondyloepiphyseal dysplasia congenita	HAPLN1	Hapln1*	1 model	Alliance of Genome Resources
Stargardt disease	ABCA4	Abca4*	5 models	Alliance of Genome Resources
Stargardt disease	ELOVL4	Elovl4*	2 models	Alliance of Genome Resources
Stormorken syndrome	ORAI1	Orai1*	1 model	Alliance of Genome Resources
thalassemia	PPP1R15A	Ppp1r15a*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus 2	IGF2	Igf2*	3 models	Alliance of Genome Resources
Ullrich congenital muscular dystrophy	COL6A3	Col6a3*	1 model	Alliance of Genome Resources
Ullrich congenital muscular dystrophy	COL6A1	Col6a1*	1 model	Alliance of Genome Resources
Usher syndrome type 2C	SLC4A7	Slc4a7*	1 model	Alliance of Genome Resources
Usher syndrome type 3	CLRN1	Clrn1*	2 models	Alliance of Genome Resources
Waardenburg syndrome	SNAI2	Snai2*	1 model	Alliance of Genome Resources
Waardenburg syndrome	AEBP2	Aebp2*	1 model	Alliance of Genome Resources
Waardenburg syndrome type 1	MITF	Mitf*	1 model	Alliance of Genome Resources
Walker-Warburg syndrome	COL4A1	Col4a1*	1 model	Alliance of Genome Resources
Williams-Beuren syndrome	LIMK1	Limk1*	3 models	Alliance of Genome Resources
Williams-Beuren syndrome	BAZ1B	Baz1b*	6 models	Alliance of Genome Resources
Williams-Beuren syndrome	SRC	Src*	1 model	Alliance of Genome Resources
Williams-Beuren syndrome	LOX	Lox*	1 model	Alliance of Genome Resources
Williams-Beuren syndrome	GTF2I	Gtf2i*	4 models	Alliance of Genome Resources
Williams-Beuren syndrome	FZD9	Fzd9*	4 models	Alliance of Genome Resources
Williams-Beuren syndrome	DLG4	Dlg4*	1 model	Alliance of Genome Resources
Williams-Beuren syndrome		b2b370Clo*	1 model
Williams-Beuren syndrome	CLIP2	Clip2*	3 models	Alliance of Genome Resources
Williams-Beuren syndrome	GTF2IRD1	Gtf2ird1*	6 models	Alliance of Genome Resources
xeroderma pigmentosum	TERF2	Terf2*	2 models	Alliance of Genome Resources
XFE progeroid syndrome	ERCC1	Ercc1*	1 model	Alliance of Genome Resources
Zellweger syndrome	PEX1	Pex1*	2 models	Alliance of Genome Resources
Zellweger syndrome	PEX11B	Pex11b*	3 models	Alliance of Genome Resources
			3-hydroxy-3-methylglutaryl-CoA lyase deficiency	HMGCL*	Hmgcl		Alliance of Genome Resources
3-hydroxyisobutryl-CoA hydrolase deficiency	HIBCH*	Hibch		Alliance of Genome Resources
3MC syndrome 1	MASP1*	Masp1		Alliance of Genome Resources
3MC syndrome 2	COLEC11*	Colec11		Alliance of Genome Resources
3MC syndrome 3	COLEC10*	Colec10		Alliance of Genome Resources
3-methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1*	Mccc1		Alliance of Genome Resources
3-methylcrotonyl-CoA carboxylase 2 deficiency	MCCC2*	Mccc2		Alliance of Genome Resources
3-methylglutaconic aciduria type 1	AUH*	Auh		Alliance of Genome Resources
3-methylglutaconic aciduria type 5	DNAJC19*	Dnajc19		Alliance of Genome Resources
3-methylglutaconic aciduria type 7a	CLPB*	Clpb		Alliance of Genome Resources
3-methylglutaconic aciduria type 7b	CLPB*	Clpb		Alliance of Genome Resources
3-methylglutaconic aciduria type 8	HTRA2*	Htra2		Alliance of Genome Resources
3-methylglutaconic aciduria type 9	TIMM50*	Timm50		Alliance of Genome Resources
3-M syndrome	CUL7*	Cul7		Alliance of Genome Resources
3-M syndrome	OBSL1*	Obsl1		Alliance of Genome Resources
3-M syndrome	CCDC8*	Ccdc8		Alliance of Genome Resources
46,XX sex reversal 2	SOX9*	Sox9		Alliance of Genome Resources
46,XX sex reversal 4	NR5A1*	Nr5a1		Alliance of Genome Resources
46,XX sex reversal 5	NR2F2*	Nr2f2		Alliance of Genome Resources
46,XY sex reversal 10	SOX9*	Sox9		Alliance of Genome Resources
46,XY sex reversal 3	NR5A1*	Nr5a1		Alliance of Genome Resources
46,XY sex reversal 5	CBX2*	Cbx2		Alliance of Genome Resources
46,XY sex reversal 6	MAP3K1*	Map3k1		Alliance of Genome Resources
46,XY sex reversal 7	DHH*	Dhh		Alliance of Genome Resources
46,XY sex reversal 8	AKR1C2*, AKR1C4*, AKR1C1, AKR1C3	Akr1c6, Akr1c12, Akr1c13, Akr1c14, Akr1c18, Akr1c19, Akr1c20, Akr1c21, Akr1cl		Alliance of Genome Resources
46,XY sex reversal 9	ZFPM2*	Zfpm2		Alliance of Genome Resources
ABCD syndrome	EDNRB*	Ednrb		Alliance of Genome Resources
abdominal obesity-metabolic syndrome 3	DYRK1B*	Dyrk1b		Alliance of Genome Resources
abdominal obesity-metabolic syndrome 4	CELA2A*, CELA2B	Cela2a		Alliance of Genome Resources
abetalipoproteinemia	MTTP*	Mttp		Alliance of Genome Resources
ablepharon macrostomia syndrome	TWIST2*	Twist2		Alliance of Genome Resources
achondrogenesis type IB	SLC26A2*	Slc26a2		Alliance of Genome Resources
acrocapitofemoral dysplasia	IHH*	Ihh		Alliance of Genome Resources
acrofacial dysostosis Cincinnati type	POLR1A*	Polr1a		Alliance of Genome Resources
acrokeratosis verruciformis	ATP2A2*	Atp2a2		Alliance of Genome Resources
acromelic frontonasal dysostosis	ZSWIM6*	Zswim6		Alliance of Genome Resources
acromesomelic dysplasia 3	BMPR1B*	Bmpr1b		Alliance of Genome Resources
acromesomelic dysplasia 4	PRKG2*	Prkg2		Alliance of Genome Resources
adermatoglyphia	SMARCAD1*	Smarcad1		Alliance of Genome Resources
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia	CSF1R*	Csf1r		Alliance of Genome Resources
adult spinal muscular atrophy	SMN1*, SMN2	Smn1		Alliance of Genome Resources
ADULT syndrome	TP63*	Trp63		Alliance of Genome Resources
advanced sleep phase syndrome	AANAT*	Aanat		Alliance of Genome Resources
advanced sleep phase syndrome	PER3*	Per3		Alliance of Genome Resources
advanced sleep phase syndrome	PER2*	Per2		Alliance of Genome Resources
advanced sleep phase syndrome 2	CSNK1D*	Csnk1d		Alliance of Genome Resources
advanced sleep phase syndrome 3	PER3*	Per3		Alliance of Genome Resources
advanced sleep phase syndrome 4	TIMELESS*	Timeless		Alliance of Genome Resources
agammaglobulinemia 1	IGHM*	Ighm		Alliance of Genome Resources
agammaglobulinemia 10	SPI1*	Spi1		Alliance of Genome Resources
agammaglobulinemia 2	IGLL1*, IGLL5	Igll1		Alliance of Genome Resources
agammaglobulinemia 3	CD79A*	Cd79a		Alliance of Genome Resources
agammaglobulinemia 4	BLNK*	Blnk		Alliance of Genome Resources
agammaglobulinemia 5	LRRC8A*	Lrrc8a		Alliance of Genome Resources
agammaglobulinemia 6	CD79B*	Cd79b		Alliance of Genome Resources
agammaglobulinemia 7	PIK3R1*	Pik3r1		Alliance of Genome Resources
agammaglobulinemia 8A	TCF3*	Tcf3		Alliance of Genome Resources
agammaglobulinemia 8B	TCF3*	Tcf3		Alliance of Genome Resources
agammaglobulinemia 9	SLC39A7*	Slc39a7		Alliance of Genome Resources
AGAT deficiency	GATM*	Gatm		Alliance of Genome Resources
age related macular degeneration	FBLN5*	Fbln5		Alliance of Genome Resources
age related macular degeneration	HTRA1*	Htra1		Alliance of Genome Resources
age related macular degeneration 1	CFHR3*, CFHR4	Cfhr2		Alliance of Genome Resources
age related macular degeneration 1	APOE*	Apoe	1 model	Alliance of Genome Resources
age related macular degeneration 1	CFHR1*, CFHR2	Cfhr1		Alliance of Genome Resources
age related macular degeneration 1	HMCN1*	Hmcn1		Alliance of Genome Resources
age related macular degeneration 11	CST3*	Cst3		Alliance of Genome Resources
age related macular degeneration 13	CFI*	Cfi		Alliance of Genome Resources
age related macular degeneration 14	CFB*	Cfb		Alliance of Genome Resources
age related macular degeneration 14	C2*	C2		Alliance of Genome Resources
age related macular degeneration 15	C9*	C9		Alliance of Genome Resources
age related macular degeneration 2	ABCA4*	Abca4	1 model	Alliance of Genome Resources
age related macular degeneration 5	ERCC6*	Ercc6		Alliance of Genome Resources
age related macular degeneration 6	RAX2*
age related macular degeneration 7	HTRA1*	Htra1		Alliance of Genome Resources
age related macular degeneration 7	C3*	C3		Alliance of Genome Resources
age related macular degeneration 8	ARMS2*
age related macular degeneration 9	C3*	C3		Alliance of Genome Resources
Aicardi-Goutieres syndrome	RNU7-1*
Aicardi-Goutieres syndrome	SAMHD1*	Samhd1		Alliance of Genome Resources
Aicardi-Goutieres syndrome	RNASEH2C*	Rnaseh2c		Alliance of Genome Resources
Aicardi-Goutieres syndrome	RNASEH2B*	Rnaseh2b		Alliance of Genome Resources
Aicardi-Goutieres syndrome	RNASEH2A*	Rnaseh2a		Alliance of Genome Resources
Aicardi-Goutieres syndrome	LSM11*	Lsm11		Alliance of Genome Resources
Aicardi-Goutieres syndrome	IFIH1*	Ifih1		Alliance of Genome Resources
Alkuraya-Kucinskas syndrome	BLTP1*	Bltp1		Alliance of Genome Resources
alopecia-mental retardation syndrome 1	AHSG*	Ahsg		Alliance of Genome Resources
alopecia-mental retardation syndrome 4	LSS*	Lss		Alliance of Genome Resources
alopecia, neurologic defects, and endocrinopathy syndrome	RBM28*	Rbm28		Alliance of Genome Resources
Alpers-Huttenlocher syndrome	POLG*	Polg		Alliance of Genome Resources
alpha thalassemia	HBA1*, HBA2*	Hba-a1, Hba-a2	7 models	Alliance of Genome Resources
alpha thalassemia	GPX1*	Gpx1		Alliance of Genome Resources
alpha thalassemia	HBB*, HBD	Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt		Alliance of Genome Resources
Alzheimer's disease 1	APP*	App		Alliance of Genome Resources
Alzheimer's disease 1	MPO*	Mpo		Alliance of Genome Resources
Alzheimer's disease 1	PLAU*	Plau		Alliance of Genome Resources
Alzheimer's disease 2	APOE*	Apoe		Alliance of Genome Resources
Alzheimer's disease 3	APOE*	Apoe		Alliance of Genome Resources
Alzheimer's disease 4	PSEN2*	Psen2	1 model	Alliance of Genome Resources
Alzheimer's disease 9	ABCA7*	Abca7		Alliance of Genome Resources
AMED syndrome	ADH5*	Adh5		Alliance of Genome Resources
amelogenesis imperfecta hypomaturation type 2A4	ODAPH*	Odaph		Alliance of Genome Resources
amelogenesis imperfecta hypomaturation type 2A5	SLC24A4*	Slc24a4		Alliance of Genome Resources
amelogenesis imperfecta type 1A	LAMB3*	Lamb3		Alliance of Genome Resources
amelogenesis imperfecta type 1C	ENAM*	Enam		Alliance of Genome Resources
amelogenesis imperfecta type 1F	AMBN*	Ambn		Alliance of Genome Resources
amelogenesis imperfecta type 1G	FAM20A*	Fam20a		Alliance of Genome Resources
amelogenesis imperfecta type 1H	ITGB6*	Itgb6		Alliance of Genome Resources
amelogenesis imperfecta type 1J	ACP4*	Acp4		Alliance of Genome Resources
amelogenesis imperfecta type 2A1	KLK4*	Klk4		Alliance of Genome Resources
amelogenesis imperfecta type 2A6	GPR68*	Gpr68		Alliance of Genome Resources
amelogenesis imperfecta type 3A	FAM83H*	Fam83h		Alliance of Genome Resources
amelogenesis imperfecta type 3B	AMTN*	Amtn		Alliance of Genome Resources
amelogenesis imperfecta type 4	DLX3*	Dlx3		Alliance of Genome Resources
amyotrophic lateral sclerosis type 1	PRPH*	Prph		Alliance of Genome Resources
amyotrophic lateral sclerosis type 1	DCTN1*	Dctn1		Alliance of Genome Resources
amyotrophic lateral sclerosis type 1	NEFH*	Nefh		Alliance of Genome Resources
amyotrophic lateral sclerosis type 24	NEK1*	Nek1		Alliance of Genome Resources
amyotrophic lateral sclerosis type 25	KIF5A*	Kif5a		Alliance of Genome Resources
amyotrophic lateral sclerosis type 26	TIA1*	Tia1		Alliance of Genome Resources
amyotrophic lateral sclerosis type 28	LRP12*	Lrp12		Alliance of Genome Resources
anauxetic dysplasia 1	RMRP*	Rmrp		Alliance of Genome Resources
anauxetic dysplasia 2	POP1*	Pop1		Alliance of Genome Resources
anauxetic dysplasia 3	RMP64*	Nepro		Alliance of Genome Resources
Andersen-Tawil syndrome	KCNJ2*	Kcnj2		Alliance of Genome Resources
aniridia 1	PAX6*	Pax6		Alliance of Genome Resources
anterior segment dysgenesis 1	PITX3*	Pitx3		Alliance of Genome Resources
anterior segment dysgenesis 2	FOXE3*	Foxe3		Alliance of Genome Resources
anterior segment dysgenesis 3	FOXC1*	Foxc1		Alliance of Genome Resources
anterior segment dysgenesis 4	PITX2*	Pitx2		Alliance of Genome Resources
anterior segment dysgenesis 7	PXDN*	Pxdn		Alliance of Genome Resources
anterior segment dysgenesis 8	CPAMD8*
Antley-Bixler syndrome with disordered steroidogenesis	POR*	Por		Alliance of Genome Resources
Antley-Bixler syndrome without disordered steroidogenesis	FGFR2*	Fgfr2		Alliance of Genome Resources
aortic valve disease 1	NOTCH1*	Notch1		Alliance of Genome Resources
aortic valve disease 2	SMAD6*	Smad6		Alliance of Genome Resources
aortic valve disease 2	NKX2-5*	Nkx2-5		Alliance of Genome Resources
aortic valve disease 2	FTO*	Fto		Alliance of Genome Resources
aortic valve disease 3	ROBO4*	Robo4		Alliance of Genome Resources
aplasia of lacrimal and salivary glands	FGF10*	Fgf10		Alliance of Genome Resources
apolipoprotein C-III deficiency	APOC3*	Apoc3		Alliance of Genome Resources
APP-related cerebral amyloid angiopathy	APP*	App		Alliance of Genome Resources
Arboleda-Tham syndrome	KAT6A*	Kat6a		Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 1	TGFB3*	Tgfb3		Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 13	CTNNA3*	Ctnna3		Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 14	CDH2*	Cdh2		Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 5	TMEM43*	Tmem43		Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 9	PKP2*	Pkp2		Alliance of Genome Resources
arthrogryposis multiplex congenita	SYNE1*	Syne1		Alliance of Genome Resources
arthrogryposis multiplex congenita	VPS33B*	Vps33b		Alliance of Genome Resources
arthrogryposis multiplex congenita	TNNI2*	Tnni2		Alliance of Genome Resources
arthrogryposis multiplex congenita	MYH8*	Myh8		Alliance of Genome Resources
arthrogryposis multiplex congenita-1	LGI4*	Lgi4		Alliance of Genome Resources
arthrogryposis multiplex congenita-3	SYNE1*	Syne1		Alliance of Genome Resources
arthrogryposis multiplex congenita-4	SCYL2*	Scyl2		Alliance of Genome Resources
arthrogryposis multiplex congenita-5	TOR1A*	Tor1a		Alliance of Genome Resources
arthrogryposis multiplex congenita-6	NEB*	Neb		Alliance of Genome Resources
arthrogryposis, renal dysfunction, and cholestasis 1	VPS33B*	Vps33b		Alliance of Genome Resources
arthrogryposis, renal dysfunction, and cholestasis 2	VIPAS39*	Vipas39		Alliance of Genome Resources
asphyxiating thoracic dystrophy 4	TTC21B*	Ttc21b		Alliance of Genome Resources
asphyxiating thoracic dystrophy 5	WDR19*	Wdr19		Alliance of Genome Resources
ataxia-oculomotor apraxia 3	PIK3R5*	Pik3r5		Alliance of Genome Resources
ataxia-oculomotor apraxia 4	PNKP*	Pnkp		Alliance of Genome Resources
ataxia telangiectasia	BAX*	Bax		Alliance of Genome Resources
ataxia telangiectasia	BIK*	Bik		Alliance of Genome Resources
ataxia telangiectasia	HDAC4*	Hdac4		Alliance of Genome Resources
ataxia telangiectasia	BAK1*	Bak1		Alliance of Genome Resources
ataxia telangiectasia	IFNG*	Ifng		Alliance of Genome Resources
ataxia telangiectasia	IL2*	Il2		Alliance of Genome Resources
ataxia-telangiectasia-like disorder 1	MRE11*	Mre11a		Alliance of Genome Resources
ataxia-telangiectasia-like disorder 2	PCNA*	Pcna		Alliance of Genome Resources
atrial heart septal defect 5	ACTC1*	Actc1		Alliance of Genome Resources
atrial heart septal defect 6	TLL1*	Tll1		Alliance of Genome Resources
atrial heart septal defect 8	CITED2*	Cited2		Alliance of Genome Resources
atrial heart septal defect 9	GATA6*	Gata6		Alliance of Genome Resources
atrial standstill 1	GJA5*	Gja5		Alliance of Genome Resources
atrial standstill 2	NPPA*	Nppa		Alliance of Genome Resources
atypical autosomal dominant adult-onset demyelinating leukodystrophy	LMNB1*	Lmnb1		Alliance of Genome Resources
autoimmune lymphoproliferative syndrome type 2A	CASP10*
autoimmune lymphoproliferative syndrome type 3	PRKCD*	Prkcd		Alliance of Genome Resources
autoimmune lymphoproliferative syndrome type 4	KRAS*	Kras		Alliance of Genome Resources
autoimmune lymphoproliferative syndrome type 4	NRAS*	Nras		Alliance of Genome Resources
autoinflammation, antibody deficiency, and immune dysregulation syndrome	PLCG2*	Plcg2		Alliance of Genome Resources
autosomal dominant Alport syndrome	COL4A3*	Col4a3		Alliance of Genome Resources
autosomal dominant Alport syndrome	MYH9*	Myh9		Alliance of Genome Resources
autosomal dominant auditory neuropathy 3	TMEM43*	Tmem43		Alliance of Genome Resources
autosomal dominant beta thalassemia	HBB*, HBD	Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt		Alliance of Genome Resources
autosomal dominant cerebellar ataxia	FGF14*	Fgf14		Alliance of Genome Resources
autosomal dominant cerebellar ataxia	SAMD9L*	Samd9l		Alliance of Genome Resources
autosomal dominant cerebellar ataxia	NPTX1*	Nptx1		Alliance of Genome Resources
autosomal dominant cerebellar ataxia, deafness and narcolepsy	DNMT1*	Dnmt1		Alliance of Genome Resources
autosomal dominant craniodiaphyseal dysplasia	SOST*	Sost		Alliance of Genome Resources
autosomal dominant craniometaphyseal dysplasia	ANKH*	Ank		Alliance of Genome Resources
autosomal dominant cutis laxa 1	ELN*	Eln		Alliance of Genome Resources
autosomal dominant cutis laxa 2	FBLN5*	Fbln5		Alliance of Genome Resources
autosomal dominant cutis laxa 3	ALDH18A1*	Aldh18a1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 10	EMILIN1*	Emilin1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 11	SPTAN1*	Sptan1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 12	REEP1*	Reep1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 13	BSCL2*	Bscl2		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 14	DCTN1*	Dctn1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 15	BAG3*	Bag3		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 3	HSPB1*	Hspb1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 4	HSPB3*	Hspb3		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 5	GARS1*	Gars1		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 6	FBXO38*	Fbxo38		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 7	SLC5A7*	Slc5a7		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 8	TRPV4*	Trpv4		Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 9	WARS1*	Wars1		Alliance of Genome Resources
autosomal dominant dyskeratosis congenita 1	TERC*
autosomal dominant dyskeratosis congenita 2	TERT*	Tert		Alliance of Genome Resources
autosomal dominant dyskeratosis congenita 3	TINF2*	Tinf2		Alliance of Genome Resources
autosomal dominant dyskeratosis congenita 6	ACD*	Acd		Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 2	LMNA*	Lmna		Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 4	SYNE1*	Syne1		Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 5	SYNE2*	Syne2		Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 7	TMEM43*	Tmem43		Alliance of Genome Resources
autosomal dominant hyaline body myopathy	MYH7*	Myh7		Alliance of Genome Resources
autosomal dominant hypocalcemia	CASR*	Casr		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 1	MBD5*	Mbd5		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 10	CACNG2*	Cacng2		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 11	EPB41L1*	Epb41l1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 13	DYNC1H1*	Dync1h1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 19	CTNNB1*	Ctnnb1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 21	CTCF*	Ctcf		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 22	ZBTB18*	Zbtb18		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 23	SETD5*	Setd5		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 29	SETBP1*	Setbp1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 3	CDH15*	Cdh15		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 30	ZMYND11*	Zmynd11		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 31	PURA*	Pura		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 33	DPP6*	Dpp6		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 34	CERT1*	Cert1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 35	PPP2R5D*	Ppp2r5d		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 36	PPP2R1A*	Ppp2r1a		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 40	CHAMP1*	Champ1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 41	TBL1XR1*	Tbl1xr1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 42	GNB1*	Gnb1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 43	HIVEP2*	Hivep2		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 44	TRIO*	Trio		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 45	CIC*	Cic		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 46	KCNQ5*	Kcnq5		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 47	STAG1*	Stag1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 48	RAC1*	Rac1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 5	SYNGAP1*	Syngap1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 50	NAA15*	Naa15		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 51	KMT5B*	Kmt5b		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 52	ASH1L*	Ash1l		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 53	CAMK2A*	Camk2a		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 54	CAMK2B*	Camk2b		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 55	NUS1*	Nus1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 56	CLTC*	Cltc		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 57	TLK2*	Tlk2		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 58	SET*, SETSIP	Set		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 59	CAMK2G*	Camk2g		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 6	GRIN2B*	Grin2b		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 60 with seizures	AP2M1*	Ap2m1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 61	MED13*	Med13		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 62	DLG4*	Dlg4		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 63 with macrocephaly	TRIO*	Trio		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 64	ZNF292*	Zfp292		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 65	KDM4B*	Kdm4b		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 66	ATP2B1*	Atp2b1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 67	GRIA1*	Gria1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 68	KMT2B*	Kmt2b		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 69	LMAN2L*	Lman2l		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 70	SETD2*	Setd2		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities	RFX7*	Rfx7		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 72	SRRM2*	Srrm2		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 73	TAF4*	Taf4		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 74	HNRNPC*, HNRNPCL1, HNRNPCL2, HNRNPCL4	Hnrnpc		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 75	DHX9*	Dhx9		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 8	GRIN1*	Grin1		Alliance of Genome Resources
autosomal dominant intellectual developmental disorder type FRA12A	DIP2B*	Dip2b		Alliance of Genome Resources
autosomal dominant isolated ectopia lentis 1	FBN1*	Fbn1		Alliance of Genome Resources
autosomal dominant isolated macrothrombocytopenia 1	TUBB1*	Tubb1		Alliance of Genome Resources
autosomal dominant isolated macrothrombocytopenia 2	TUBA8*	Tuba8		Alliance of Genome Resources
autosomal dominant keratitis	PAX6*	Pax6		Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy	CAPN3*	Capn3		Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy type 1	DNAJB6*	Dnajb6		Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy type 2	TNPO3*	Tnpo3		Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy type 3	HNRNPDL*	Hnrnpdl		Alliance of Genome Resources
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques	TRPV3*	Trpv3		Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy	CHRNB2*	Chrnb2		Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 1	CHRNA4*	Chrna4	1 "NOT" model	Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 4	CHRNA2*	Chrna2		Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 5	KCNT1*	Kcnt1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 1	DIAPH1*	Diaph1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 10	EYA4*	Eya4		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 11	MYO7A*	Myo7a		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 17	MYH9*	Myh9		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 20	ACTG1*	Actg1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 21	RIPOR2*	Ripor2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 23	SIX1*	Six1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 27	REST*	Rest		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 28	GRHL2*	Grhl2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 2A	KCNQ4*	Kcnq4		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 2B	GJB3*	Gjb3		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 34	NLRP3*	Nlrp3		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 37	COL11A1*	Col11a1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 3A	GJB2*	Gjb2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 3B	GJB6*	Gjb6		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 40	CRYM*	Crym		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 44	CCDC50*	Ccdc50		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 4A	MYH14*	Myh14		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 4B	CEACAM16*	Ceacam16		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 5	GSDME*	Gsdme		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 50	MIR96*	Mir96		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 56	TNC*	Tnc		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 6	WFS1*	Wfs1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 64	DIABLO*	Diablo		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 65	TBC1D24*	Tbc1d24	2 "NOT" models	Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 66	CD164*	Cd164		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 68	HOMER2*	Homer2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 69	KITLG*	Kitl		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 7	LMX1A*	Lmx1a		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 70	MCM2*	Mcm2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 71	DMXL2*	Dmxl2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 72	SLC44A4*	Slc44a4		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 73	PTPRQ*	Ptprq		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 74	PDE1C*	Pde1c		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 75	TRRAP*	Trrap		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 76	PLS1*	Pls1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 77	ABCC1*	Abcc1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 78	SLC12A2*	Slc12a2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 79	SCD5*
autosomal dominant nonsyndromic deafness 80	GREB1L*	Greb1l		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 81	ELMOD3*	Elmod3		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 82	ATP2B2*	Atp2b2		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 83	MAP1B*	Map1b		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 84	ATP11A*	Atp11a		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 85	USP48*	Usp48		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 86	THOC1*	Thoc1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 87	PI4KB*	Pi4kb		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 88	EPHA10*	Epha10		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 89	ATOH1*	Atoh1		Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 90	MYO3A*	Myo3a		Alliance of Genome Resources
autosomal dominant osteopetrosis 1	LRP5*	Lrp5		Alliance of Genome Resources
autosomal dominant polycystic kidney disease	PKD1*	Pkd1		Alliance of Genome Resources
autosomal dominant polycystic kidney disease	MTOR*	Mtor		Alliance of Genome Resources
autosomal dominant polycystic kidney disease	LRP5*	Lrp5		Alliance of Genome Resources
autosomal dominant primary microcephaly 26	LMNB1*	Lmnb1		Alliance of Genome Resources
autosomal dominant primary microcephaly 27	LMNB2*	Lmnb2		Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia 1	POLG*	Polg		Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	SLC25A4*	Slc25a4		Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	POLG2*	Polg2		Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	RRM2B*	Rrm2b		Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6	DNA2*	Dna2		Alliance of Genome Resources
autosomal dominant Robinow syndrome 1	WNT5A*	Wnt5a		Alliance of Genome Resources
autosomal dominant Robinow syndrome 2	DVL1*, DVL1P1	Dvl1		Alliance of Genome Resources
autosomal dominant Robinow syndrome 3	DVL3*	Dvl3		Alliance of Genome Resources
autosomal dominant sensory ataxia 1	RNF170*	Rnf170		Alliance of Genome Resources
autosomal dominant sideroblastic anemia 4	HSPA9*	Hspa9		Alliance of Genome Resources
autosomal dominant thrombophilia due to protein C deficiency	PROC*	Proc		Alliance of Genome Resources
autosomal dominant thrombophilia due to protein S deficiency	PROS1*	Pros1		Alliance of Genome Resources
autosomal dominant tubulointerstitial kidney disease 1	UMOD*	Umod		Alliance of Genome Resources
autosomal dominant tubulointerstitial kidney disease 2	MUC1*	Muc1		Alliance of Genome Resources
autosomal dominant tubulointerstitial kidney disease 4	REN*	Ren1, Ren2		Alliance of Genome Resources
autosomal dominant tubulointerstitial kidney disease 5	SEC61A1*	Sec61a1		Alliance of Genome Resources
autosomal dominant tubulointerstitial kidney disease 6	APOA4*	Apoa4		Alliance of Genome Resources
autosomal dominant vitreoretinochoroidopathy	BEST1*	Best1		Alliance of Genome Resources
autosomal dominant Wolfram syndrome	WFS1*	Wfs1		Alliance of Genome Resources
autosomal dominant woolly hair	KRT74*	Krt74		Alliance of Genome Resources
autosomal hemophilia A	IFNL4*
autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome	OTULIN*	Otulin		Alliance of Genome Resources
autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis	GDAP1*	Gdap1		Alliance of Genome Resources
autosomal recessive chronic granulomatous disease 1	NCF1*, NCF1B, NCF1C	Ncf1		Alliance of Genome Resources
autosomal recessive chronic granulomatous disease 2	NCF2*	Ncf2		Alliance of Genome Resources
autosomal recessive chronic granulomatous disease 3	NCF4*	Ncf4		Alliance of Genome Resources
autosomal recessive chronic granulomatous disease 4	CYBA*	Cyba		Alliance of Genome Resources
autosomal recessive chronic granulomatous disease 5	CYBC1*	Cybc1		Alliance of Genome Resources
autosomal recessive congenital bilateral absence of vas deferens	CFTR*	Cftr		Alliance of Genome Resources
autosomal recessive congenital ichthyosis	ERCC2*	Ercc2		Alliance of Genome Resources
autosomal recessive congenital ichthyosis	CASP14*	Casp14		Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1	ALOXE3*	Aloxe3		Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1	ABCA12*	Abca12		Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1	ABHD5*	Abhd5		Alliance of Genome Resources
autosomal recessive congenital ichthyosis 11	ST14*	St14		Alliance of Genome Resources
autosomal recessive congenital ichthyosis 14	SULT2B1*	Sult2b1		Alliance of Genome Resources
autosomal recessive congenital ichthyosis 2	ALOX12B*	Alox12b		Alliance of Genome Resources
autosomal recessive congenital ichthyosis 3	ALOXE3*	Aloxe3		Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4A	ABCA12*	Abca12		Alliance of Genome Resources
autosomal recessive congenital ichthyosis 5	CYP4F22*	Cyp4f39		Alliance of Genome Resources
autosomal recessive congenital ichthyosis 6	NIPAL4*	Nipal4		Alliance of Genome Resources
autosomal recessive congenital ichthyosis 8	LIPN*	Lipn		Alliance of Genome Resources
autosomal recessive congenital ichthyosis 9	CERS3*	Cers3		Alliance of Genome Resources
autosomal recessive congenital nystagmus	ROBO1*	Robo1		Alliance of Genome Resources
autosomal recessive craniometaphyseal dysplasia	GJA1*	Gja1		Alliance of Genome Resources
autosomal recessive cutis laxa type IA	FBLN5*	Fbln5		Alliance of Genome Resources
autosomal recessive cutis laxa type IB	EFEMP2*	Efemp2		Alliance of Genome Resources
autosomal recessive cutis laxa type IC	LTBP4*	Ltbp4		Alliance of Genome Resources
autosomal recessive cutis laxa type IIA	ATP6V0A2*	Atp6v0a2		Alliance of Genome Resources
autosomal recessive cutis laxa type IIB	PYCR1*	Pycr1		Alliance of Genome Resources
autosomal recessive cutis laxa type IIC	ATP6V1E1*	Atp6v1e1		Alliance of Genome Resources
autosomal recessive cutis laxa type IID	ATP6V1A*	Atp6v1a		Alliance of Genome Resources
autosomal recessive cutis laxa type III	ALDH18A1*	Aldh18a1		Alliance of Genome Resources
autosomal recessive cutis laxa type IIIA	ALDH18A1*	Aldh18a1		Alliance of Genome Resources
autosomal recessive cutis laxa type IIIB	PYCR1*	Pycr1		Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 10	VRK1*	Vrk1		Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 2	SIGMAR1*	Sigmar1		Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 4	PLEKHG5*	Plekhg5		Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 5	DNAJB2*	Dnajb2		Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 6	REEP1*	Reep1		Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 7	VWA1*	Vwa1		Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 8	SORD*	Sord		Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 9	COQ7*	Coq7		Alliance of Genome Resources
autosomal recessive dyskeratosis congenita 1	NOP10*	Nop10		Alliance of Genome Resources
autosomal recessive dyskeratosis congenita 2	NHP2*	Nhp2		Alliance of Genome Resources
autosomal recessive dyskeratosis congenita 3	WRAP53*	Wrap53		Alliance of Genome Resources
autosomal recessive dyskeratosis congenita 5	RTEL1*	Rtel1		Alliance of Genome Resources
autosomal recessive dyskeratosis congenita 6	PARN*	Parn		Alliance of Genome Resources
autosomal recessive Emery-Dreifuss muscular dystrophy 3	LMNA*	Lmna		Alliance of Genome Resources
autosomal recessive hyaline body myopathy	MYH7*	Myh7		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder	ASCC3*	Ascc3		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder	CASP2*	Casp2		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder	TPR*	Tpr		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder	WDR11*	Wdr11		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 1	PRSS12*	Prss12		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 12	ST3GAL3*	St3gal3		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 13	TRAPPC9*	Trappc9		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 14	TECR*	Tecr		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 18	MED23*	Med23		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 2	CRBN*	Crbn		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 27	LINS1*	Lins1		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 3	CC2D1A*	Cc2d1a		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 34	CRADD*	Cradd		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 37	ANK3*	Ank3		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 38	HERC2*	Herc2		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 39	TTI2*	Tti2		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 40	TAF2*	Taf2		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 43	WASHC4*	Washc4		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 44	METTL23*	Mettl23		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 45	FBXO31*	Fbxo31		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 46	NDST1*	Ndst1		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 47	FMN2*	Fmn2		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 48	SLC6A17*	Slc6a17		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 5	NSUN2*	Nsun2		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 50	EDC3*	Edc3		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 51	HNMT*	Hnmt		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 52	LMAN2L*	Lman2l		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 54	TNIK*	Tnik		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 56	ZC3H14*	Zc3h14		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 57	MBOAT7*	Mboat7		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 58	ELP2*	Elp2		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 59	IMPA1*	Impa1		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 6	GRIK2*	Grik2		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 60	TAF13*	Taf13		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 61	RUSC2*	Rusc2		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 63	CAMK2A*	Camk2a		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 64	LINGO1*	Lingo1		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 65	KDM5B*	Kdm5b		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 66	FERRY3*	D6Wsu163e		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 67	EIF3F*	Eif3f		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 68	TRMT1*	Trmt1		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 69	ZBTB11*	Zbtb11		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 7	TUSC3*	Tusc3		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 70	RSRC1*	Rsrc1		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 71	ALKBH8*	Alkbh8		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 72	METTL5*	Mettl5		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 73	NAA20*	Naa20		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 74	APC2*	Apc2		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 75	PIDD1*	Pidd1		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 76	GRIA1*	Gria1		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 77	CEP104*	Cep104		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 82	NSUN6*	Nsun6		Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 83	KICS2*	Kics2		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy	HMGCR*	Hmgcr		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy	POPDC3*	Popdc3		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy	POMT2*	Pomt2		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy	LAMA2*	Lama2		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy	JAG2*	Jag2		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2D	DAG1*	Dag1		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2K	POMT1*	Pomt1		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2L	FKTN*	Fktn		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2M	FKTN*	Fktn		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2N	POMT2*	Pomt2		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2O	POMGNT1*	Pomgnt1		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2Q	PLEC*	Plec		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2S	TRAPPC11*	Trappc11		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2T	GMPPB*	Gmppb		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2W	LIMS2*	Lims2		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2X	POPDC1*	Popdc1		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2Y	TOR1AIP1*	Tor1aip1		Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2Z	POGLUT1*	Poglut1		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness	AFG2B*	Afg2b		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness	CDH23*	Cdh23		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness	CLRN2*	Clrn2		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness	GPR156*	Gpr156		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness	MINAR2*	Minar2		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness	PKHD1L1*	Pkhd1l1		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness	STX4*	Stx4a		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 100	PPIP5K2*	Ppip5k2		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 101	GRXCR2*	Grxcr2		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 102	EPS8*	Eps8		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 103	CLIC5*	Clic5		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 104	RIPOR2*	Ripor2		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 106	EPS8L2*	Eps8l2		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 107	WBP2*	Wbp2		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 108	ROR1*	Ror1		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 109	ESRP1*	Esrp1		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 110	COCH*	Coch		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 112	BDP1*	Bdp1		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 113	CEACAM16*	Ceacam16		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 114	GRAP*, GRAPL	Grap		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 115	SPNS2*	Spns2		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 116	CLDN9*	Cldn9		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 12	ATP2B2*	Atp2b2		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 15	GIPC3*	Gipc3		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 1A	GJB3*	Gjb3		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 1B	GJB6*	Gjb6		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 21	TECTA*	Tecta		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 24	RDX*	Rdx		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 25	GRXCR1*	Grxcr1		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 26	GAB1*	Gab1		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 35	ESRRB*	Esrrb		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 36	ESPN*	Espn		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 4	KCNJ10*	Kcnj10		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 4	FOXI1*	Foxi1		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 4	SLC26A4*	Slc26a4		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 44	ADCY1*	Adcy1		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 53	COL11A2*	Col11a2		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 57	PDZD7*	Pdzd7		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 6	TMIE*	Tmie		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 61	SLC26A5*	Slc26a5		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 66	DCDC2*	Dcdc2a		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 67	LHFPL5*	Lhfpl5		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 70	PNPT1*	Pnpt1		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 76	SYNE4*	Syne4		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 77	LOXHD1*	Loxhd1		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 8	TMPRSS3*	Tmprss3		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 84A	PTPRQ*	Ptprq		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 84B	OTOGL*	Otogl		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 86	TBC1D24*	Tbc1d24	1 "NOT" model	Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 89	KARS1*	Kars1		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 91	SERPINB6*	Serpinb6a, Serpinb6b, Serpinb6c, Serpinb6d, Serpinb6e		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 94	NARS2*	Nars2		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 97	MET*	Met		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 98	TSPEAR*	Tspear		Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 99	TMEM132E*	Tmem132e		Alliance of Genome Resources
autosomal recessive osteopetrosis 7	TNFRSF11A*	Tnfrsf11a		Alliance of Genome Resources
autosomal recessive progressive external ophthalmoplegia 1	POLG*	Polg		Alliance of Genome Resources
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2	RNASEH1*	Rnaseh1		Alliance of Genome Resources
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3	TK2*	Tk2		Alliance of Genome Resources
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4	DGUOK*	Dguok		Alliance of Genome Resources
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5	TOP3A*	Top3a		Alliance of Genome Resources
autosomal recessive pyridoxine-refractory sideroblastic anemia 2	SLC25A38*	Slc25a38		Alliance of Genome Resources
autosomal recessive pyridoxine-refractory sideroblastic anemia 3	GLRX5*	Glrx5		Alliance of Genome Resources
autosomal recessive Robinow syndrome 2	NXN*	Nxn		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 10	ANO10*	Ano10		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 11	SYT14*	Syt14		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 14	SPTBN2*	Sptbn2		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 15	RUBCN*	Rubcn		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 17	CWF19L1*	Cwf19l1		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 19	SLC9A1*	Slc9a1		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 2	PMPCA*	Pmpca		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 20	SNX14*	Snx14		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 21	SCYL1*	Scyl1		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 22	VWA3B*	Vwa3b		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 23	TDP2*	Tdp2		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 24	UBA5*	Uba5		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 25	ATG5*	Atg5		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 26	XRCC1*	Xrcc1		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 27	GDAP2*	Gdap2		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 28	THG1L*	Thg1l		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 29	VPS41*	Vps41		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 30	PITRM1*	Pitrm1		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 31	ATG7*	Atg7		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 32	PRDX3*	Prdx3		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 33	RNU12*
autosomal recessive spinocerebellar ataxia 34	CA8*	Car8		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 4	VPS13D*	Vps13d		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 7	TPP1*	Tpp1		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 8	SYNE1*	Syne1		Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia with axonal neuropathy 3	COA7*	Coa7		Alliance of Genome Resources
autosomal recessive thrombophilia due to protein C deficiency	PROC*	Proc		Alliance of Genome Resources
autosomal recessive thrombophilia due to protein S deficiency	PROS1*	Pros1		Alliance of Genome Resources
autosomal recessive woolly hair 3	KRT25*	Krt25		Alliance of Genome Resources
Axenfeld-Rieger syndrome	FOXC1*	Foxc1		Alliance of Genome Resources
Axenfeld-Rieger syndrome	PITX2*	Pitx2		Alliance of Genome Resources
Axenfeld-Rieger syndrome type 3	FOXC1*	Foxc1		Alliance of Genome Resources
axial spondylometaphyseal dysplasia	CFAP410*	Cfap410		Alliance of Genome Resources
Ayme-Gripp syndrome	MAF*	Maf		Alliance of Genome Resources
Bainbridge-Ropers syndrome	ASXL3*	Asxl3		Alliance of Genome Resources
Baraitser-Winter syndrome 1	ACTB*	Actb		Alliance of Genome Resources
Baraitser-Winter syndrome 2	ACTG1*	Actg1		Alliance of Genome Resources
Bardet-Biedl syndrome	TMEM67*	Tmem67		Alliance of Genome Resources
Bardet-Biedl syndrome	TTC8*	Ttc8		Alliance of Genome Resources
Bardet-Biedl syndrome	TRIM32*	Trim32		Alliance of Genome Resources
Bardet-Biedl syndrome	NPHP1*	Nphp1		Alliance of Genome Resources
Bardet-Biedl syndrome	MKS1*	Mks1		Alliance of Genome Resources
Bardet-Biedl syndrome	MKKS*	Mkks		Alliance of Genome Resources
Bardet-Biedl syndrome	CCDC28B*	Ccdc28b		Alliance of Genome Resources
Bardet-Biedl syndrome	BBS10*	Bbs10		Alliance of Genome Resources
Bardet-Biedl syndrome	BBS9*	Bbs9		Alliance of Genome Resources
Bardet-Biedl syndrome	BBS7*	Bbs7		Alliance of Genome Resources
Bardet-Biedl syndrome	BBS5*	Bbs5		Alliance of Genome Resources
Bardet-Biedl syndrome	BBS2*	Bbs2		Alliance of Genome Resources
Bardet-Biedl syndrome	BBS1*	Bbs1		Alliance of Genome Resources
Bardet-Biedl syndrome	ARL6*	Arl6		Alliance of Genome Resources
Bardet-Biedl syndrome 1	CCDC28B*	Ccdc28b		Alliance of Genome Resources
Bardet-Biedl syndrome 1	ARL6*	Arl6		Alliance of Genome Resources
Bardet-Biedl syndrome 11	TRIM32*	Trim32		Alliance of Genome Resources
Bardet-Biedl syndrome 12	BBS12*	Bbs12		Alliance of Genome Resources
Bardet-Biedl syndrome 13	MKS1*	Mks1		Alliance of Genome Resources
Bardet-Biedl syndrome 14	CEP290*	Cep290		Alliance of Genome Resources
Bardet-Biedl syndrome 14	TMEM67*	Tmem67		Alliance of Genome Resources
Bardet-Biedl syndrome 15	WDPCP*	Wdpcp		Alliance of Genome Resources
Bardet-Biedl syndrome 19	IFT27*	Ift27		Alliance of Genome Resources
Bardet-Biedl syndrome 20	IFT172*	Ift172		Alliance of Genome Resources
Bardet-Biedl syndrome 21	CFAP418*	Cfap418		Alliance of Genome Resources
Bardet-Biedl syndrome 22	IFT74*	Ift74		Alliance of Genome Resources
Bardet-Biedl syndrome 7	BBS7*	Bbs7		Alliance of Genome Resources
Bardet-Biedl syndrome 9	BBS9*	Bbs9		Alliance of Genome Resources
Bart-Pumphrey syndrome	GJB2*	Gjb2		Alliance of Genome Resources
Becker disease	CLCN1*	Clcn1		Alliance of Genome Resources
Behr syndrome	OPA1*	Opa1		Alliance of Genome Resources
benign familial hematuria	COL4A3*	Col4a3		Alliance of Genome Resources
benign familial hematuria	COL4A4*	Col4a4		Alliance of Genome Resources
benign familial infantile seizures 2	PRRT2*	Prrt2		Alliance of Genome Resources
benign familial infantile seizures 3	SCN2A*	Scn2a		Alliance of Genome Resources
benign familial infantile seizures 5	SCN8A*	Scn8a		Alliance of Genome Resources
benign recurrent intrahepatic cholestasis 1	ATP8B1*	Atp8b1		Alliance of Genome Resources
benign recurrent intrahepatic cholestasis 2	ABCB11*	Abcb11		Alliance of Genome Resources
bent bone dysplasia syndrome 1	FGFR2*	Fgfr2		Alliance of Genome Resources
bent bone dysplasia syndrome 2	LAMA5*	Lama5		Alliance of Genome Resources
Bernard-Soulier syndrome	GP9*	Gp9		Alliance of Genome Resources
Bernard-Soulier syndrome	VWF*	Vwf		Alliance of Genome Resources
Bernard-Soulier syndrome type A2	GP1BA*	Gp1ba		Alliance of Genome Resources
beta-ketothiolase deficiency	ACAT1*	Acat1		Alliance of Genome Resources
beta thalassemia	GH1*, CSH1, CSH2, CSHL1, GH2	Gh		Alliance of Genome Resources
beta thalassemia	GATA1*	Gata1		Alliance of Genome Resources
beta thalassemia	TNF*	Tnf		Alliance of Genome Resources
beta thalassemia	HFE*	Hfe		Alliance of Genome Resources
beta thalassemia	COL1A1*	Col1a1		Alliance of Genome Resources
beta thalassemia	BCL11A*	Bcl11a		Alliance of Genome Resources
beta thalassemia	GSTT1*	Gstt1		Alliance of Genome Resources
beta thalassemia	HLA-DQB1*, HLA-DQB2	H2-Ab1		Alliance of Genome Resources
beta thalassemia	HBS1L*	Hbs1l		Alliance of Genome Resources
Beukes hip dysplasia	UFSP2*	Ufsp2		Alliance of Genome Resources
BH4-deficient hyperphenylalaninemia C	QDPR*	Qdpr		Alliance of Genome Resources
BH4-deficient hyperphenylalaninemia D	PCBD1*	Pcbd1		Alliance of Genome Resources
bilateral frontoparietal polymicrogyria	ADGRG1*	Adgrg1		Alliance of Genome Resources
bilateral optic nerve hypoplasia	PAX6*	Pax6		Alliance of Genome Resources
bilateral parasagittal parieto-occipital polymicrogyria	FIG4*	Fig4		Alliance of Genome Resources
Birk-Barel syndrome	KCNK9*	Kcnk9		Alliance of Genome Resources
Birt-Hogg-Dube syndrome	PRDM10*	Prdm10		Alliance of Genome Resources
Bjornstad syndrome	BCS1L*	Bcs1l		Alliance of Genome Resources
Blau syndrome	NOD2*	Nod2		Alliance of Genome Resources
blepharocheilodontic syndrome 1	CDH1*	Cdh1		Alliance of Genome Resources
blepharocheilodontic syndrome 2	CTNND1*	Ctnnd1		Alliance of Genome Resources
blepharophimosis-impaired intellectual development syndrome	SMARCA2*	Smarca2		Alliance of Genome Resources
blue color blindness	OPN1SW*	Opn1sw		Alliance of Genome Resources
Bothnian type palmoplantar keratoderma	AQP5*	Aqp5		Alliance of Genome Resources
Boucher-Neuhauser syndrome	PNPLA6*	Pnpla6		Alliance of Genome Resources
brachycephaly, trichomegaly, and developmental delay	RPS23*	Rps23		Alliance of Genome Resources
brachydactyly-syndactyly syndrome	HOXD13*	Hoxd13		Alliance of Genome Resources
brachydactyly type A1	GDF5*	Gdf5		Alliance of Genome Resources
brachydactyly type A1D	BMPR1B*	Bmpr1b		Alliance of Genome Resources
brachydactyly type A2	BMPR1B*	Bmpr1b		Alliance of Genome Resources
brachydactyly type A2	BMP2*	Bmp2		Alliance of Genome Resources
brachydactyly type D	HOXD13*	Hoxd13		Alliance of Genome Resources
bradyopsia 1	RGS9*	Rgs9		Alliance of Genome Resources
bradyopsia 2	RGS9BP*	Rgs9bp		Alliance of Genome Resources
brain small vessel disease 2	COL4A2*	Col4a2		Alliance of Genome Resources
brain small vessel disease 3	COLGALT1*	Colgalt1		Alliance of Genome Resources
branchiooculofacial syndrome	TFAP2A*	Tfap2a		Alliance of Genome Resources
branchiootorenal syndrome	PAX1*	Pax1		Alliance of Genome Resources
branchiootorenal syndrome 1	EYA1*	Eya1		Alliance of Genome Resources
branchiootorenal syndrome 2	SIX5*	Six5		Alliance of Genome Resources
brittle cornea syndrome 2	PRDM5*	Prdm5		Alliance of Genome Resources
bronchiectasis 1	SCNN1B*	Scnn1b		Alliance of Genome Resources
bronchiectasis 1	CFTR*	Cftr		Alliance of Genome Resources
bronchiectasis 2	SCNN1A*	Scnn1a		Alliance of Genome Resources
bronchiectasis 3	SCNN1G*	Scnn1g		Alliance of Genome Resources
Brooke-Spiegler syndrome	CYLD*	Cyld		Alliance of Genome Resources
Brown-Vialetto-Van Laere syndrome 1	SLC52A3*	Slc52a3		Alliance of Genome Resources
Brown-Vialetto-Van Laere syndrome 2	SLC52A2*, SLC52A1	Slc52a2		Alliance of Genome Resources
Brugada syndrome 9	KCND3*	Kcnd3		Alliance of Genome Resources
Bryant-Li-Bhoj neurodevelopmental syndrome 1	H3-3A*, H3-3B, H3-5	H3f3a, H3f3b		Alliance of Genome Resources
Bryant-Li-Bhoj neurodevelopmental syndrome 2	H3-3B*, H3-3A, H3-5	H3f3a, H3f3b		Alliance of Genome Resources
Buschke-Ollendorff syndrome	LEMD3*	Lemd3		Alliance of Genome Resources
CADASIL 2	HTRA1*	Htra1		Alliance of Genome Resources
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	PRG4*	Prg4		Alliance of Genome Resources
camptodactyly-tall stature-scoliosis-hearing loss syndrome	FGFR3*	Fgfr3		Alliance of Genome Resources
carboxypeptidase N deficiency	CPN1*	Cpn1		Alliance of Genome Resources
cardiofaciocutaneous syndrome 1	BRAF*	Braf		Alliance of Genome Resources
cardiofaciocutaneous syndrome 2	KRAS*	Kras		Alliance of Genome Resources
cardiofaciocutaneous syndrome 3	MAP2K1*	Map2k1		Alliance of Genome Resources
cardiofaciocutaneous syndrome 4	MAP2K2*	Map2k2		Alliance of Genome Resources
Carey-Fineman-Ziter syndrome 1	MYMK*	Mymk		Alliance of Genome Resources
Carney-Stratakis syndrome	SDHB*	Sdhb		Alliance of Genome Resources
Carney-Stratakis syndrome	SDHD*	Sdhd		Alliance of Genome Resources
Carney-Stratakis syndrome	SDHC*	Sdhc		Alliance of Genome Resources
carnitine-acylcarnitine translocase deficiency	SLC25A20*	Slc25a20		Alliance of Genome Resources
carpal tunnel syndrome 1	TTR*	Ttr		Alliance of Genome Resources
carpal tunnel syndrome 2	COMP*	Comp		Alliance of Genome Resources
Carpenter syndrome 2	MEGF8*	Megf8		Alliance of Genome Resources
cartilage-hair hypoplasia	RMRP*	Rmrp		Alliance of Genome Resources
cataract 11 multiple types	PITX3*	Pitx3		Alliance of Genome Resources
cataract 12 multiple types	BFSP2*	Bfsp2		Alliance of Genome Resources
cataract 13 with adult i phenotype	GCNT2*	Gcnt2		Alliance of Genome Resources
cataract 17 multiple types	CRYBB1*	Crybb1		Alliance of Genome Resources
cataract 18	FYCO1*	Fyco1		Alliance of Genome Resources
cataract 22 multiple types	CRYBB3*	Crybb3		Alliance of Genome Resources
cataract 31 multiple types	CHMP4B*, CHMP4BP1	Chmp4b		Alliance of Genome Resources
cataract 33	BFSP1*	Bfsp1		Alliance of Genome Resources
cataract 36	TDRD7*	Tdrd7		Alliance of Genome Resources
cataract 38	AGK*	Agk		Alliance of Genome Resources
cataract 41	WFS1*	Wfs1		Alliance of Genome Resources
cataract 42	CRYBA2*	Cryba2		Alliance of Genome Resources
cataract 43	UNC45B*	Unc45b		Alliance of Genome Resources
cataract 44	LSS*	Lss		Alliance of Genome Resources
cataract 45	SIPA1L3*	Sipa1l3		Alliance of Genome Resources
cataract 46 juvenile-onset	LEMD2*	Lemd2		Alliance of Genome Resources
cataract 47	SLC16A12*	Slc16a12		Alliance of Genome Resources
cataract 48	DNMBP*	Dnmbp		Alliance of Genome Resources
cataract 7	CRYGD*	Crygd, Cryge, Crygf		Alliance of Genome Resources
cataract 9 multiple types	PITX3*	Pitx3		Alliance of Genome Resources
central conducting lymphatic anomaly	EPHB4*	Ephb4		Alliance of Genome Resources
central precocious puberty 1	KISS1R*	Kiss1r		Alliance of Genome Resources
centronuclear myopathy 1	DNM2*	Dnm2		Alliance of Genome Resources
centronuclear myopathy 1	MTMR14*	Mtmr14		Alliance of Genome Resources
centronuclear myopathy 2	BIN1*	Bin1		Alliance of Genome Resources
centronuclear myopathy 4	CCDC78*	Ccdc78		Alliance of Genome Resources
centronuclear myopathy 5	SPEG*	Speg		Alliance of Genome Resources
centronuclear myopathy 6 with fiber-type disproportion	MAP3K20*	Map3k20		Alliance of Genome Resources
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	VLDLR*	Vldlr		Alliance of Genome Resources
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2	WDR81*	Wdr81		Alliance of Genome Resources
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4	ATP8A2*	Atp8a2		Alliance of Genome Resources
cerebellar ataxia type 41	TRPC3*	Trpc3		Alliance of Genome Resources
cerebellar ataxia type 43	MME*	Mme		Alliance of Genome Resources
cerebellar ataxia type 47	PUM1*	Pum1		Alliance of Genome Resources
cerebellar ataxia type 48	STUB1*	Stub1		Alliance of Genome Resources
cerebellar atrophy, visual impairment, and psychomotor retardation	EMC1*	Emc1		Alliance of Genome Resources
cerebellofaciodental syndrome	BRF1*	Brf1		Alliance of Genome Resources
cerebral folate receptor alpha deficiency	FOLR1*	Folr1		Alliance of Genome Resources
cerebrooculofacioskeletal syndrome 1	ERCC6*	Ercc6		Alliance of Genome Resources
cerebrooculofacioskeletal syndrome 2	ERCC2*	Ercc2		Alliance of Genome Resources
cerebrooculofacioskeletal syndrome 3	ERCC5*	Ercc5		Alliance of Genome Resources
cerebrooculofacioskeletal syndrome 4	ERCC1*	Ercc1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2C	TRPV4*	Trpv4		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2C	GDAP1*	Gdap1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2CC	NEFH*	Nefh		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2F	HSPB1*	Hspb1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2JJ	BAG3*	Bag3		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2K	JPH1*	Jph1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2L	HSPB8*	Hspb8		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2N	AARS1*	Aars1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2T	MME*	Mme		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2U	MARS1*	Mars1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2V	NAGLU*	Naglu		Alliance of Genome Resources
Charcot-Marie-Tooth disease, axonal type 2W	HARS1*	Hars1		Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2X	SPG11*	Spg11		Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate A	GBF1*	Gbf1		Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate B	DNM2*	Dnm2		Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate D	MPZ*	Mpz		Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate E	INF2*	Inf2		Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate F	GNB4*	Gnb4		Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate G	NEFL*	Nefl		Alliance of Genome Resources
Charcot-Marie-Tooth disease recessive intermediate A	GDAP1*	Gdap1		Alliance of Genome Resources
Charcot-Marie-Tooth disease recessive intermediate B	KARS1*	Kars1		Alliance of Genome Resources
Charcot-Marie-Tooth disease recessive intermediate C	PLEKHG5*	Plekhg5		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1D	EGR2*	Egr2		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1F	NEFL*	Nefl		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1G	PMP2*	Pmp2		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2A2B	MFN2*	Mfn2		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2B2	PNKP*	Pnkp		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2DD	ATP1A1*	Atp1a1		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2EE	MPV17*	Mpv17		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2I	MPZ*	Mpz		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2J	MPZ*	Mpz		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2R	TRIM2*	Trim2		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2Y	VCP*	Vcp		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3	PRX*	Prx		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3	EGR2*	Egr2		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4A	GDAP1*	Gdap1		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4F	PRX*	Prx		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4G	HK1*	Hk1		Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4K	SURF1*	Surf1		Alliance of Genome Resources
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities	MECR*	Mecr		Alliance of Genome Resources
childhood-onset neurodegeneration with brain atrophy	UBTF*	Ubtf		Alliance of Genome Resources
CHIME syndrome	PIGL*	Pigl		Alliance of Genome Resources
cholesterol ester storage disease	LIPA*	Lipa		Alliance of Genome Resources
chromosome 15q24 deletion syndrome	SIN3A*	Sin3a		Alliance of Genome Resources
Clark-Baraitser syndrome	TRIP12*	Trip12		Alliance of Genome Resources
classic dopamine transporter deficiency syndrome	SLC6A3*	Slc6a3		Alliance of Genome Resources
classic galactosemia	GALT*	Galt		Alliance of Genome Resources
cleft lip-palate-ectodermal dysplasia syndrome	NECTIN1*	Nectin1	3 "NOT" models	Alliance of Genome Resources
cleft palate, cardiac defects, and intellectual disability	MEIS2*	Meis2		Alliance of Genome Resources
COACH syndrome	TMEM67*	Tmem67		Alliance of Genome Resources
Cockayne syndrome A	ERCC8*	Ercc8		Alliance of Genome Resources
Cockayne syndrome B	ERCC6*	Ercc6		Alliance of Genome Resources
CODAS syndrome	LONP1*	Lonp1		Alliance of Genome Resources
Coffin-Siris syndrome	ARID1B*	Arid1b		Alliance of Genome Resources
Coffin-Siris syndrome 10	SOX4*	Sox4		Alliance of Genome Resources
Coffin-Siris syndrome 11	SMARCD1*	Smarcd1		Alliance of Genome Resources
Coffin-Siris syndrome 12	BICRA*	Bicra		Alliance of Genome Resources
Coffin-Siris syndrome 2	ARID1A*	Arid1a		Alliance of Genome Resources
Coffin-Siris syndrome 3	SMARCB1*	Smarcb1		Alliance of Genome Resources
Coffin-Siris syndrome 4	SMARCA4*	Smarca4		Alliance of Genome Resources
Coffin-Siris syndrome 5	SMARCE1*	Smarce1		Alliance of Genome Resources
Coffin-Siris syndrome 6	ARID2*	Arid2		Alliance of Genome Resources
Coffin-Siris syndrome 7	DPF2*	Dpf2		Alliance of Genome Resources
Coffin-Siris syndrome 8	SMARCC2*	Smarcc2		Alliance of Genome Resources
Coffin-Siris syndrome 9	SOX11*	Sox11		Alliance of Genome Resources
cold-induced sweating syndrome 1	CRLF1*	Crlf1		Alliance of Genome Resources
cold-induced sweating syndrome 2	CLCF1*	Clcf1		Alliance of Genome Resources
cold-induced sweating syndrome 3	KLHL7*	Klhl7		Alliance of Genome Resources
combined cellular and humoral immune defects with granulomas	RAG1*	Rag1		Alliance of Genome Resources
combined cellular and humoral immune defects with granulomas	RAG2*	Rag2		Alliance of Genome Resources
combined D-2- and L-2-hydroxyglutaric aciduria	SLC25A1*	Slc25a1		Alliance of Genome Resources
combined deficiency of vitamin K-dependent clotting factors 1	GGCX*	Ggcx		Alliance of Genome Resources
combined deficiency of vitamin K-dependent clotting factors 2	VKORC1*	Vkorc1		Alliance of Genome Resources
combined malonic and methylmalonic acidemia	ACSF3*	Acsf3		Alliance of Genome Resources
combined or isolated pituitary growth hormone deficiency 7	RNPC3*	Rnpc3		Alliance of Genome Resources
combined or isolated pituitary hormone deficiency 1	POU1F1*	Pou1f1		Alliance of Genome Resources
combined or isolated pituitary hormone deficiency 8	ROBO1*	Robo1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 1	GFM1*	Gfm1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 10	MTO1*	Mto1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 11	RMND1*	Rmnd1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 12	EARS2*	Ears2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 13	PNPT1*	Pnpt1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 14	FARS2*	Fars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 15	MTFMT*	Mtfmt		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 16	MRPL44*	Mrpl44		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 17	ELAC2*	Elac2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 18	SFXN4*	Sfxn4		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 19	LYRM4*	Lyrm4		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 2	MRPS16*	Mrps16		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 20	VARS2*	Vars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 21	TARS2*	Tars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 22	ATP5F1A*	Atp5f1a		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 23	GTPBP3*	Gtpbp3		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 24	NARS2*	Nars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 25	MARS2*	Mars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 26	TRMT5*	Trmt5		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 27	CARS2*	Cars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 28	SLC25A26*	Slc25a26		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 29	TXN2*	Txn2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 3	TSFM*	Tsfm		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 30	TRMT10C*	Trmt10c		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 31	MIPEP*	Mipep		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 32	MRPS34*	Mrps34		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 33	C1QBP*	C1qbp		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 34	MRPS7*	Mrps7		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 35	TRIT1*	Trit1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 36	MRPS2*	Mrps2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 37	MICOS13*	Micos13		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 38	MRPS14*	Mrps14		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 39	GFM2*	Gfm2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 4	TUFM*	Tufm		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 40	QRSL1*	Qrsl1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 41	GATB*	Gatb		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 42	GATC*	Gatc		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 43	TIMM22*	Timm22		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 44	FASTKD2*	Fastkd2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 45	MRPL12*	Mrpl12		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 46	MRPS23*	Mrps23		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 47	MRPS28*	Mrps28		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 48	NSUN3*	Nsun3		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 49	MIEF2*	Mief2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 5	MRPS22*	Mrps22		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 50	MRPS25*	Mrps25		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 51	PTCD3*	Ptcd3		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 52	NFS1*	Nfs1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 53	C2orf69*	1700066M21Rik		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 54	PRORP*	Prorp		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 55	POLRMT*	Polrmt		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 56	TAMM41*	Tamm41		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 57	CRLS1*	Crls1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 7	MTRFR*	Mtrfr		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 8	AARS2*	Aars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 9	MRPL3*	Mrpl3		Alliance of Genome Resources
combined pituitary hormone deficiency 2	PROP1*	Prop1		Alliance of Genome Resources
combined pituitary hormone deficiency 3	LHX3*	Lhx3		Alliance of Genome Resources
combined pituitary hormone deficiency 4	LHX4*	Lhx4		Alliance of Genome Resources
combined pituitary hormone deficiency 6	OTX2*	Otx2		Alliance of Genome Resources
common variable immunodeficiency	IL21R*	Il21r		Alliance of Genome Resources
common variable immunodeficiency	MBL2*	Mbl2		Alliance of Genome Resources
common variable immunodeficiency	SEC61A1*	Sec61a1		Alliance of Genome Resources
common variable immunodeficiency	HLA-DQB1*, HLA-DQB2	H2-Ab1		Alliance of Genome Resources
common variable immunodeficiency	DCLRE1C*	Dclre1c		Alliance of Genome Resources
common variable immunodeficiency 1	ICOS*	Icos		Alliance of Genome Resources
common variable immunodeficiency 10	NFKB2*	Nfkb2		Alliance of Genome Resources
common variable immunodeficiency 11	IL21*	Il21		Alliance of Genome Resources
common variable immunodeficiency 12	NFKB1*	Nfkb1		Alliance of Genome Resources
common variable immunodeficiency 13	IKZF1*	Ikzf1		Alliance of Genome Resources
common variable immunodeficiency 14	IRF2BP2*	Irf2bp2		Alliance of Genome Resources
common variable immunodeficiency 2	TNFRSF13B*	Tnfrsf13b		Alliance of Genome Resources
common variable immunodeficiency 3	CD19*	Cd19		Alliance of Genome Resources
common variable immunodeficiency 4	TNFRSF13C*	Tnfrsf13c		Alliance of Genome Resources
common variable immunodeficiency 5	MS4A1*	Ms4a1		Alliance of Genome Resources
common variable immunodeficiency 6	CD81*	Cd81		Alliance of Genome Resources
common variable immunodeficiency 7	CR2*	Cr2		Alliance of Genome Resources
common variable immunodeficiency 8	LRBA*	Lrba		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 1	TUBB3*	Tubb3		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 2	KIF5C*	Kif5c		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 3	KIF2A*	Kif2a		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 5	TUBB2A*	Tubb2a		Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 6	TUBB*	Tubb5		Alliance of Genome Resources
cone-rod dystrophy 24	UNC119*	Unc119		Alliance of Genome Resources
congenital adrenal insufficiency	CYP11A1*	Cyp11a1		Alliance of Genome Resources
congenital afibrinogenemia	FGA*	Fga		Alliance of Genome Resources
congenital afibrinogenemia	FGB*	Fgb		Alliance of Genome Resources
congenital amegakaryocytic thrombocytopenia 1	MPL*	Mpl		Alliance of Genome Resources
congenital amegakaryocytic thrombocytopenia 2	THPO*	Thpo		Alliance of Genome Resources
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	SON*	Son		Alliance of Genome Resources
congenital central hypoventilation syndrome	BDNF*	Bdnf		Alliance of Genome Resources
congenital central hypoventilation syndrome	MYO1H*	Myo1h		Alliance of Genome Resources
congenital central hypoventilation syndrome	LBX1*	Lbx1		Alliance of Genome Resources
congenital contractural arachnodactyly	FBN2*	Fbn2		Alliance of Genome Resources
congenital diarrhea 6	GUCY2C*	Gucy2c		Alliance of Genome Resources
congenital diarrhea 7 with exudative enteropathy	DGAT1*	Dgat1		Alliance of Genome Resources
congenital disorder of deglycosylation 1	NGLY1*	Ngly1		Alliance of Genome Resources
congenital disorder of deglycosylation 2	MAN2C1*	Man2c1		Alliance of Genome Resources
congenital disorder of glycosylation Ia	PMM2*	Pmm2		Alliance of Genome Resources
congenital disorder of glycosylation Iaa	NUS1*	Nus1		Alliance of Genome Resources
congenital disorder of glycosylation Ib	MPI*	Mpi		Alliance of Genome Resources
congenital disorder of glycosylation Ic	ALG6*	Alg6		Alliance of Genome Resources
congenital disorder of glycosylation Id	ALG3*	Alg3		Alliance of Genome Resources
congenital disorder of glycosylation Ie	DPM1*	Dpm1		Alliance of Genome Resources
congenital disorder of glycosylation If	MPDU1*	Mpdu1		Alliance of Genome Resources
congenital disorder of glycosylation Ig	ALG12*	Alg12		Alliance of Genome Resources
congenital disorder of glycosylation Ih	ALG8*	Alg8		Alliance of Genome Resources
congenital disorder of glycosylation Ii	ALG2*	Alg2		Alliance of Genome Resources
congenital disorder of glycosylation Ij	DPAGT1*	Dpagt1		Alliance of Genome Resources
congenital disorder of glycosylation Ik	ALG1*, ALG1L2	Alg1		Alliance of Genome Resources
congenital disorder of glycosylation Il	ALG9*	Alg9		Alliance of Genome Resources
congenital disorder of glycosylation Im	DOLK*	Dolk		Alliance of Genome Resources
congenital disorder of glycosylation In	RFT1*	Rft1		Alliance of Genome Resources
congenital disorder of glycosylation Ip	ALG11*	Alg11		Alliance of Genome Resources
congenital disorder of glycosylation Iq	SRD5A3*	Srd5a3		Alliance of Genome Resources
congenital disorder of glycosylation Ir	DDOST*	Ddost		Alliance of Genome Resources
congenital disorder of glycosylation It	PGM1*	Pgm1		Alliance of Genome Resources
congenital disorder of glycosylation Iu	DPM2*	Dpm2		Alliance of Genome Resources
congenital disorder of glycosylation Iw	STT3A*	Stt3a		Alliance of Genome Resources
congenital disorder of glycosylation Ix	STT3B*	Stt3b		Alliance of Genome Resources
congenital disorder of glycosylation type IIb	MOGS*	Mogs		Alliance of Genome Resources
congenital disorder of glycosylation type IIbb	COG3*	Cog3		Alliance of Genome Resources
congenital disorder of glycosylation type IId	B4GALT1*	B4galt1		Alliance of Genome Resources
congenital disorder of glycosylation type IIe	COG7*	Cog7		Alliance of Genome Resources
congenital disorder of glycosylation type IIf	SLC35A1*	Slc35a1		Alliance of Genome Resources
congenital disorder of glycosylation type IIg	COG1*	Cog1		Alliance of Genome Resources
congenital disorder of glycosylation type IIh	COG8*	Cog8		Alliance of Genome Resources
congenital disorder of glycosylation type IIi	COG5*	Cog5		Alliance of Genome Resources
congenital disorder of glycosylation type IIj	COG4*	Cog4		Alliance of Genome Resources
congenital disorder of glycosylation type IIk	TMEM165*	Tmem165		Alliance of Genome Resources
congenital disorder of glycosylation type IIl	COG6*	Cog6		Alliance of Genome Resources
congenital disorder of glycosylation type IIn	SLC39A8*	Slc39a8		Alliance of Genome Resources
congenital disorder of glycosylation type IIo	VMA22*	Ccdc115		Alliance of Genome Resources
congenital disorder of glycosylation type IIp	VMA12*	Tmem199		Alliance of Genome Resources
congenital disorder of glycosylation type IIq	COG2*	Cog2		Alliance of Genome Resources
congenital disorder of glycosylation type IIt	GALNT2*	Galnt2		Alliance of Genome Resources
congenital disorder of glycosylation type IIv	EDEM3*	Edem3		Alliance of Genome Resources
congenital disorder of glycosylation type IIw	SLC37A4*	Slc37a4		Alliance of Genome Resources
congenital disorder of glycosylation type IIy	GET4*	Get4		Alliance of Genome Resources
congenital disorder of glycosylation type IIz	CAMLG*	Caml		Alliance of Genome Resources
congenital dyserythropoietic anemia type Ia	CDAN1*	Cdan1		Alliance of Genome Resources
congenital dyserythropoietic anemia type Ib	CDIN1*	Cdin1		Alliance of Genome Resources
congenital dyserythropoietic anemia type II	SEC23B*	Sec23b		Alliance of Genome Resources
congenital dyserythropoietic anemia type IIIa	KIF23*	Kif23	2 "NOT" models	Alliance of Genome Resources
congenital dyserythropoietic anemia type IIIb	RACGAP1*	Racgap1		Alliance of Genome Resources
congenital dyserythropoietic anemia type IVa	KLF1*	Klf1		Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 1	KIF21A*	Kif21a		Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 2	PHOX2A*	Phox2a		Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 3A	TUBB3*	Tubb3		Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 5	COL25A1*	Col25a1		Alliance of Genome Resources
congenital generalized lipodystrophy	PCYT1A*	Pcyt1a		Alliance of Genome Resources
congenital generalized lipodystrophy type 3	CAV1*	Cav1		Alliance of Genome Resources
congenital glutamine deficiency	GLUL*	Glul		Alliance of Genome Resources
congenital heart defects, hamartomas of tongue, and polysyndactyly	WDPCP*	Wdpcp		Alliance of Genome Resources
congenital hypotrichosis with juvenile macular dystrophy	CDH3*	Cdh3		Alliance of Genome Resources
congenital lactase deficiency	LCT*	Lct		Alliance of Genome Resources
congenital leptin deficiency	LEP*	Lep		Alliance of Genome Resources
congenital limbs-face contractures-hypotonia-developmental delay syndrome	NALCN*	Nalcn		Alliance of Genome Resources
congenital malabsorptive diarrhea 4	NEUROG3*	Neurog3		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A1	POMT1*	Pomt1		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A10	RXYLT1*	Rxylt1		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A11	B3GALNT2*	B3galnt2		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A12	POMK*	Pomk		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A13	B4GAT1*	B4gat1		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A14	GMPPB*	Gmppb		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A2	POMT2*	Pomt2		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A3	POMGNT1*	Pomgnt1		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A5	FKRP*	Fkrp		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A6	LARGE1*	Large1		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A7	CRPPA*	Crppa		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A8	POMGNT2*	Pomgnt2		Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A9	DAG1*	Dag1		Alliance of Genome Resources
congenital muscular dystrophy with cataracts and intellectual disability	INPP5K*	Inpp5k		Alliance of Genome Resources
congenital myasthenic syndrome 13	DPAGT1*	Dpagt1		Alliance of Genome Resources
congenital myasthenic syndrome 14	ALG2*	Alg2		Alliance of Genome Resources
congenital myasthenic syndrome 15	ALG14*	Alg14		Alliance of Genome Resources
congenital myasthenic syndrome 16	SCN4A*	Scn4a		Alliance of Genome Resources
congenital myasthenic syndrome 17	LRP4*	Lrp4		Alliance of Genome Resources
congenital myasthenic syndrome 18	SNAP25*	Snap25		Alliance of Genome Resources
congenital myasthenic syndrome 1A	CAST*	Cast		Alliance of Genome Resources
congenital myasthenic syndrome 1A	CHRNA1*	Chrna1		Alliance of Genome Resources
congenital myasthenic syndrome 1B	CHRNA1*	Chrna1		Alliance of Genome Resources
congenital myasthenic syndrome 20	SLC5A7*	Slc5a7		Alliance of Genome Resources
congenital myasthenic syndrome 21	SLC18A3*	Slc18a3		Alliance of Genome Resources
congenital myasthenic syndrome 22	PREPL*	Prepl		Alliance of Genome Resources
congenital myasthenic syndrome 2A	CHRNB1*	Chrnb1		Alliance of Genome Resources
congenital myasthenic syndrome 2C	CHRNB1*	Chrnb1		Alliance of Genome Resources
congenital myasthenic syndrome 3B	CHRND*	Chrnd		Alliance of Genome Resources
congenital myasthenic syndrome 3C	CHRND*	Chrnd		Alliance of Genome Resources
congenital myasthenic syndrome 4B	CHRNE*	Chrne		Alliance of Genome Resources
congenital myasthenic syndrome 7	SYT2*	Syt2		Alliance of Genome Resources
congenital myopathy 10B	MEGF10*	Megf10		Alliance of Genome Resources
congenital myopathy 13	STAC3*	Stac3		Alliance of Genome Resources
congenital myopathy 14	MYL1*	Myl1		Alliance of Genome Resources
congenital myopathy 15	TNNC2*	Tnnc2		Alliance of Genome Resources
congenital myopathy 16	MYBPC1*	Mybpc1		Alliance of Genome Resources
congenital myopathy 17	MYOD1*	Myod1		Alliance of Genome Resources
congenital myopathy 18	CACNA1S*	Cacna1s		Alliance of Genome Resources
congenital myopathy 19	PAX7*	Pax7		Alliance of Genome Resources
congenital myopathy 20	RYR3*	Ryr3		Alliance of Genome Resources
congenital myopathy 21	DNAJB4*	Dnajb4		Alliance of Genome Resources
congenital myopathy 22A	SCN4A*	Scn4a		Alliance of Genome Resources
congenital myopathy 22B	SCN4A*	Scn4a		Alliance of Genome Resources
congenital myopathy 2B	ACTA1*	Acta1		Alliance of Genome Resources
congenital myopathy 2C	ACTA1*	Acta1		Alliance of Genome Resources
congenital myopathy 4A	TPM3*	Tpm3		Alliance of Genome Resources
congenital myopathy 4B	TPM3*	Tpm3		Alliance of Genome Resources
congenital myopathy 5	TTN*	Ttn		Alliance of Genome Resources
congenital myopathy 6	MYH2*	Myh2		Alliance of Genome Resources
congenital myopathy 8	ACTN2*	Actn2		Alliance of Genome Resources
congenital myopathy 9A	FXR1*	Fxr1		Alliance of Genome Resources
congenital myopathy 9B	FXR1*	Fxr1		Alliance of Genome Resources
congenital nongoitrous hypothyroidism 1	TSHR*	Tshr		Alliance of Genome Resources
congenital nongoitrous hypothyroidism 2	PAX8*	Pax8		Alliance of Genome Resources
congenital nongoitrous hypothyroidism 4	TSHB*	Tshb		Alliance of Genome Resources
congenital nongoitrous hypothyroidism 5	NKX2-5*	Nkx2-5		Alliance of Genome Resources
congenital nongoitrous hypothyroidism 6	THRA*	Thra		Alliance of Genome Resources
congenital nongoitrous hypothyroidism 7	TRHR*	Trhr		Alliance of Genome Resources
congenital nongoitrous hypothyroidism 8	TBL1X*, TBL1Y	Tbl1x		Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia 3	AK1*	Ak1		Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia 4	GPI*	Gpi1		Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia 5	HK1*	Hk1		Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia 6	GSS*	Gss		Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia 7	GCLC*	Gclc		Alliance of Genome Resources
congenital nonspherocytic hemolytic anemia 8	NT5C3A*	Nt5c3		Alliance of Genome Resources
congenital secretory sodium diarrhea 3	SPINT2*	Spint2	1 model	Alliance of Genome Resources
congenital secretory sodium diarrhea 8	SLC9A3*	Slc9a3		Alliance of Genome Resources
congenital stationary night blindness 1G	GNAT1*	Gnat1		Alliance of Genome Resources
congenital stationary night blindness 1H	GNB3*	Gnb3		Alliance of Genome Resources
congenital stationary night blindness autosomal dominant 3	GNAT1*	Gnat1		Alliance of Genome Resources
congenital sucrase-isomaltase deficiency	SI*	Sis		Alliance of Genome Resources
congenital symmetric circumferential skin creases 1	TUBB*	Tubb5		Alliance of Genome Resources
congenital symmetric circumferential skin creases 2	MAPRE2*	Mapre2		Alliance of Genome Resources
congenital vertical talus	HOXD10*	Hoxd10		Alliance of Genome Resources
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	MYH3*	Myh3		Alliance of Genome Resources
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B	MYH3*	Myh3		Alliance of Genome Resources
corneal dystrophy-perceptive deafness syndrome	SLC4A11*	Slc4a11		Alliance of Genome Resources
Cornelia de Lange syndrome 4	RAD21*	Rad21		Alliance of Genome Resources
Cornelia de Lange syndrome 6	BRD4*	Brd4		Alliance of Genome Resources
corticosterone methyloxidase deficiency 1	CYP11B2*, CYP11B1	Cyp11b1, Cyp11b2		Alliance of Genome Resources
cortisone reductase deficiency 1	H6PD*	H6pd		Alliance of Genome Resources
Cowden syndrome 5	PIK3CA*	Pik3ca		Alliance of Genome Resources
Cowden syndrome 6	AKT1*	Akt1		Alliance of Genome Resources
Cowden syndrome 7	SEC23B*	Sec23b		Alliance of Genome Resources
cranioectodermal dysplasia 1	IFT122*	Ift122		Alliance of Genome Resources
cranioectodermal dysplasia 2	WDR35*	Wdr35		Alliance of Genome Resources
cranioectodermal dysplasia 3	IFT43*	Ift43		Alliance of Genome Resources
cranioectodermal dysplasia 4	WDR19*	Wdr19		Alliance of Genome Resources
craniofacial-deafness-hand syndrome	PAX3*	Pax3		Alliance of Genome Resources
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1	TMCO1*	Tmco1		Alliance of Genome Resources
craniolenticulosutural dysplasia	SEC23A*	Sec23a		Alliance of Genome Resources
craniosynostosis 1	TWIST1*	Twist1		Alliance of Genome Resources
craniosynostosis 2	MSX2*	Msx2		Alliance of Genome Resources
craniosynostosis 3	TCF12*	Tcf12		Alliance of Genome Resources
craniosynostosis 4	ERF*	Erf		Alliance of Genome Resources
craniosynostosis 6	ZIC1*	Zic1		Alliance of Genome Resources
Crouzon syndrome-acanthosis nigricans syndrome	FGFR3*	Fgfr3		Alliance of Genome Resources
CST3-related cerebral amyloid angiopathy	CST3*	Cst3		Alliance of Genome Resources
C syndrome	CD96*	Cd96		Alliance of Genome Resources
Culler-Jones syndrome	GLI2*	Gli2		Alliance of Genome Resources
Currarino syndrome	MNX1*	Mnx1		Alliance of Genome Resources
cystic fibrosis	AGER*	Ager		Alliance of Genome Resources
cystic fibrosis	TNF*	Tnf		Alliance of Genome Resources
cystic fibrosis	TLR9*	Tlr9		Alliance of Genome Resources
cystic fibrosis	TLR5*	Tlr5		Alliance of Genome Resources
cystic fibrosis	TGFB1*	Tgfb1		Alliance of Genome Resources
cystic fibrosis	SERPINA3*	Serpina3a, Serpina3b, Serpina3c, Serpina3f, Serpina3g, Serpina3i, Serpina3j, Serpina3k, Serpina3m, Serpina3n		Alliance of Genome Resources
cystic fibrosis	PTX3*	Ptx3		Alliance of Genome Resources
cystic fibrosis	PTGS2*	Ptgs2		Alliance of Genome Resources
cystic fibrosis	NOS3*	Nos3		Alliance of Genome Resources
cystic fibrosis	NOS1*	Nos1		Alliance of Genome Resources
cystic fibrosis	MPO*	Mpo		Alliance of Genome Resources
cystic fibrosis	MIF*	Mif		Alliance of Genome Resources
cystic fibrosis	MBL2*	Mbl2		Alliance of Genome Resources
cystic fibrosis	LTA*	Lta		Alliance of Genome Resources
cystic fibrosis	IL1B*	Il1b		Alliance of Genome Resources
cystic fibrosis	HSPA1A*	Hspa1a		Alliance of Genome Resources
cystic fibrosis	HFE*	Hfe		Alliance of Genome Resources
cystic fibrosis	GSTT1*	Gstt1		Alliance of Genome Resources
cystic fibrosis	GSTM3*	Gstm5		Alliance of Genome Resources
cystic fibrosis	GSTM1*, GSTM5	Gstm1, Gstm2, Gstm3, Gstm6		Alliance of Genome Resources
cystic fibrosis	GCLC*	Gclc		Alliance of Genome Resources
cystic fibrosis	FCGR2A*, FCGR2B, FCGR2C	Fcgr2b, Fcgr3		Alliance of Genome Resources
cystic fibrosis	FAS*	Fas		Alliance of Genome Resources
cystic fibrosis	CYP1A1*	Cyp1a1		Alliance of Genome Resources
cystic fibrosis	CD14*	Cd14		Alliance of Genome Resources
cystic fibrosis	ADRB2*	Adrb2		Alliance of Genome Resources
cytochrome P450 oxidoreductase deficiency	POR*	Por		Alliance of Genome Resources
D-2-hydroxyglutaric aciduria 1	D2HGDH*	D2hgdh		Alliance of Genome Resources
D-2-hydroxyglutaric aciduria 2	IDH2*	Idh2		Alliance of Genome Resources
dehydrated hereditary stomatocytosis 2	KCNN4*	Kcnn4		Alliance of Genome Resources
delta beta-thalassemia	HBB*, HBD	Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt		Alliance of Genome Resources
delta beta-thalassemia	HBG1*, HBG2*	Hbb-bh0, Hbb-bh1		Alliance of Genome Resources
dentatorubral-pallidoluysian atrophy	ATN1*	Atn1		Alliance of Genome Resources
dentinogenesis imperfecta	COL1A1*	Col1a1		Alliance of Genome Resources
dermatopathia pigmentosa reticularis	KRT14*	Krt14		Alliance of Genome Resources
De Sanctis-Cacchione syndrome	ERCC6*	Ercc6		Alliance of Genome Resources
DeSanto-Shinawi syndrome	WAC*	Wac		Alliance of Genome Resources
developmental and epileptic encephalopathy 100	FBXO28*	Fbxo28		Alliance of Genome Resources
developmental and epileptic encephalopathy 101	GRIN1*	Grin1		Alliance of Genome Resources
developmental and epileptic encephalopathy 102	SLC38A3*	Slc38a3		Alliance of Genome Resources
developmental and epileptic encephalopathy 103	KCNC2*	Kcnc2		Alliance of Genome Resources
developmental and epileptic encephalopathy 104	ATP6V0A1*	Atp6v0a1		Alliance of Genome Resources
developmental and epileptic encephalopathy 105	HID1*	Hid1		Alliance of Genome Resources
developmental and epileptic encephalopathy 106	UFSP2*	Ufsp2		Alliance of Genome Resources
developmental and epileptic encephalopathy 107	NAPB*	Napb		Alliance of Genome Resources
developmental and epileptic encephalopathy 108	MAST3*	Mast3		Alliance of Genome Resources
developmental and epileptic encephalopathy 109	FZR1*	Fzr1		Alliance of Genome Resources
developmental and epileptic encephalopathy 11	SCN2A*	Scn2a		Alliance of Genome Resources
developmental and epileptic encephalopathy 110	CACNA2D1*	Cacna2d1		Alliance of Genome Resources
developmental and epileptic encephalopathy 116	GLUL*	Glul		Alliance of Genome Resources
developmental and epileptic encephalopathy 12	PLCB1*	Plcb1		Alliance of Genome Resources
developmental and epileptic encephalopathy 13	SCN8A*	Scn8a		Alliance of Genome Resources
developmental and epileptic encephalopathy 15	ST3GAL3*	St3gal3		Alliance of Genome Resources
developmental and epileptic encephalopathy 18	SZT2*	Szt2		Alliance of Genome Resources
developmental and epileptic encephalopathy 19	GABRA1*	Gabra1		Alliance of Genome Resources
developmental and epileptic encephalopathy 21	NECAP1*	Necap1		Alliance of Genome Resources
developmental and epileptic encephalopathy 23	DOCK7*	Dock7		Alliance of Genome Resources
developmental and epileptic encephalopathy 24	HCN1*	Hcn1		Alliance of Genome Resources
developmental and epileptic encephalopathy 25	SLC13A5*	Slc13a5		Alliance of Genome Resources
developmental and epileptic encephalopathy 26	KCNB1*	Kcnb1		Alliance of Genome Resources
developmental and epileptic encephalopathy 27	GRIN2B*	Grin2b		Alliance of Genome Resources
developmental and epileptic encephalopathy 28	WWOX*	Wwox		Alliance of Genome Resources
developmental and epileptic encephalopathy 29	AARS1*	Aars1		Alliance of Genome Resources
developmental and epileptic encephalopathy 3	SLC25A22*	Slc25a22		Alliance of Genome Resources
developmental and epileptic encephalopathy 30	SIK1*	Sik1		Alliance of Genome Resources
developmental and epileptic encephalopathy 31A	DNM1*	Dnm1		Alliance of Genome Resources
developmental and epileptic encephalopathy 31B	DNM1*	Dnm1		Alliance of Genome Resources
developmental and epileptic encephalopathy 32	KCNA2*	Kcna2		Alliance of Genome Resources
developmental and epileptic encephalopathy 33	EEF1A2*	Eef1a2		Alliance of Genome Resources
developmental and epileptic encephalopathy 34	SLC12A5*	Slc12a5		Alliance of Genome Resources
developmental and epileptic encephalopathy 35	ITPA*	Itpa		Alliance of Genome Resources
developmental and epileptic encephalopathy 38	ARV1*	Arv1		Alliance of Genome Resources
developmental and epileptic encephalopathy 4	STXBP1*	Stxbp1		Alliance of Genome Resources
developmental and epileptic encephalopathy 40	GUF1*	Guf1		Alliance of Genome Resources
developmental and epileptic encephalopathy 41	SLC1A2*	Slc1a2		Alliance of Genome Resources
developmental and epileptic encephalopathy 42	CACNA1A*	Cacna1a		Alliance of Genome Resources
developmental and epileptic encephalopathy 43	GABRB3*	Gabrb3		Alliance of Genome Resources
developmental and epileptic encephalopathy 44	UBA5*	Uba5		Alliance of Genome Resources
developmental and epileptic encephalopathy 45	GABRB1*	Gabrb1		Alliance of Genome Resources
developmental and epileptic encephalopathy 47	FGF12*	Fgf12		Alliance of Genome Resources
developmental and epileptic encephalopathy 48	AP3B2*	Ap3b2		Alliance of Genome Resources
developmental and epileptic encephalopathy 49	DENND5A*	Dennd5a		Alliance of Genome Resources
developmental and epileptic encephalopathy 5	SPTAN1*	Sptan1		Alliance of Genome Resources
developmental and epileptic encephalopathy 50	CAD*	Cad		Alliance of Genome Resources
developmental and epileptic encephalopathy 51	MDH2*	Mdh2		Alliance of Genome Resources
developmental and epileptic encephalopathy 52	SCN1B*	Scn1b		Alliance of Genome Resources
developmental and epileptic encephalopathy 53	SYNJ1*	Synj1		Alliance of Genome Resources
developmental and epileptic encephalopathy 55	PIGP*	Pigp		Alliance of Genome Resources
developmental and epileptic encephalopathy 56	YWHAG*	Ywhag		Alliance of Genome Resources
developmental and epileptic encephalopathy 57	KCNT2*	Kcnt2		Alliance of Genome Resources
developmental and epileptic encephalopathy 58	NTRK2*	Ntrk2		Alliance of Genome Resources
developmental and epileptic encephalopathy 59	GABBR2*	Gabbr2		Alliance of Genome Resources
developmental and epileptic encephalopathy 60	CNPY3*	Cnpy3		Alliance of Genome Resources
developmental and epileptic encephalopathy 61	ADAM22*	Adam22		Alliance of Genome Resources
developmental and epileptic encephalopathy 62	SCN3A*	Scn3a		Alliance of Genome Resources
developmental and epileptic encephalopathy 63	CPLX1*	Cplx1		Alliance of Genome Resources
developmental and epileptic encephalopathy 64	RHOBTB2*	Rhobtb2		Alliance of Genome Resources
developmental and epileptic encephalopathy 65	CYFIP2*	Cyfip2		Alliance of Genome Resources
developmental and epileptic encephalopathy 66	PACS2*	Pacs2		Alliance of Genome Resources
developmental and epileptic encephalopathy 67	CUX2*	Cux2		Alliance of Genome Resources
developmental and epileptic encephalopathy 68	TRAK1*	Trak1		Alliance of Genome Resources
developmental and epileptic encephalopathy 69	CACNA1E*	Cacna1e		Alliance of Genome Resources
developmental and epileptic encephalopathy 6B	SCN1A*	Scn1a		Alliance of Genome Resources
developmental and epileptic encephalopathy 70	PHACTR1*	Phactr1		Alliance of Genome Resources
developmental and epileptic encephalopathy 71	GLS*	Gls		Alliance of Genome Resources
developmental and epileptic encephalopathy 72	NEUROD2*	Neurod2		Alliance of Genome Resources
developmental and epileptic encephalopathy 73	RNF13*	Rnf13		Alliance of Genome Resources
developmental and epileptic encephalopathy 74	GABRG2*	Gabrg2		Alliance of Genome Resources
developmental and epileptic encephalopathy 75	PARS2*	Pars2		Alliance of Genome Resources
developmental and epileptic encephalopathy 76	ACTL6B*	Actl6b		Alliance of Genome Resources
developmental and epileptic encephalopathy 78	GABRA2*	Gabra2		Alliance of Genome Resources
developmental and epileptic encephalopathy 79	GABRA5*	Gabra5		Alliance of Genome Resources
developmental and epileptic encephalopathy 80	PIGB*	Pigb		Alliance of Genome Resources
developmental and epileptic encephalopathy 81	DMXL2*	Dmxl2		Alliance of Genome Resources
developmental and epileptic encephalopathy 82	GOT2*	Got2		Alliance of Genome Resources
developmental and epileptic encephalopathy 83	UGP2*	Ugp2		Alliance of Genome Resources
developmental and epileptic encephalopathy 84	UGDH*	Ugdh		Alliance of Genome Resources
developmental and epileptic encephalopathy 86	DALRD3*	Dalrd3		Alliance of Genome Resources
developmental and epileptic encephalopathy 87	CDK19*	Cdk19		Alliance of Genome Resources
developmental and epileptic encephalopathy 88	MDH1*	Mdh1		Alliance of Genome Resources
developmental and epileptic encephalopathy 89	GAD1*	Gad1		Alliance of Genome Resources
developmental and epileptic encephalopathy 91	PPP3CA*	Ppp3ca		Alliance of Genome Resources
developmental and epileptic encephalopathy 92	GABRB2*	Gabrb2		Alliance of Genome Resources
developmental and epileptic encephalopathy 93	ATP6V1A*	Atp6v1a		Alliance of Genome Resources
developmental and epileptic encephalopathy 95	PIGS*	Pigs		Alliance of Genome Resources
developmental and epileptic encephalopathy 96	NSF*	Nsf		Alliance of Genome Resources
developmental and epileptic encephalopathy 97	CELF2*	Celf2		Alliance of Genome Resources
developmental and epileptic encephalopathy 98	ATP1A2*	Atp1a2		Alliance of Genome Resources
developmental and epileptic encephalopathy 99	ATP1A3*	Atp1a3		Alliance of Genome Resources
developmental delay, dysmorphic facies, and brain anomalies	U2AF2*	U2af2		Alliance of Genome Resources
developmental delay, hypotonia, and impaired language	FBXW7*	Fbxw7		Alliance of Genome Resources
developmental dysplasia of the hip 1	GDF5*	Gdf5		Alliance of Genome Resources
D-glyceric aciduria	GLYCTK*	Glyctk		Alliance of Genome Resources
Diamond-Blackfan anemia 1	RPS19*	Rps19		Alliance of Genome Resources
Diamond-Blackfan anemia 10	RPS26*, RPS26P11	Rps26		Alliance of Genome Resources
Diamond-Blackfan anemia 11	RPL26*, RPL26L1	Rpl26		Alliance of Genome Resources
Diamond-Blackfan anemia 12	RPL15*	Rpl15		Alliance of Genome Resources
Diamond-Blackfan anemia 13	RPS29*	Rps29		Alliance of Genome Resources
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	RPS28*	Rps28		Alliance of Genome Resources
Diamond-Blackfan anemia 16	RPL27*	Rpl27		Alliance of Genome Resources
Diamond-Blackfan anemia 17	RPS27*	Rps27, Rps27rt		Alliance of Genome Resources
Diamond-Blackfan anemia 18	RPL18*	Rpl18		Alliance of Genome Resources
Diamond-Blackfan anemia 19	RPL35*	Rpl35		Alliance of Genome Resources
Diamond-Blackfan anemia 20	RPS15A*	Rps15a		Alliance of Genome Resources
Diamond-blackfan anemia 3	RPS24*	Rps24		Alliance of Genome Resources
Diamond-Blackfan anemia 4	RPS17*	Rps17		Alliance of Genome Resources
Diamond-Blackfan anemia 5	RPL35A*	Rpl35a		Alliance of Genome Resources
Diamond-Blackfan anemia 8	RPS7*	Rps7		Alliance of Genome Resources
Diamond-Blackfan anemia 9	RPS10*	Rps10		Alliance of Genome Resources
diaphyseal medullary stenosis with malignant fibrous histiocytoma	MTAP*	Mtap		Alliance of Genome Resources
DICER1 syndrome	DICER1*	Dicer1		Alliance of Genome Resources
diffuse cystic renal dysplasia	BICC1*	Bicc1		Alliance of Genome Resources
DiGeorge syndrome	UFD1*	Ufd1	2 models	Alliance of Genome Resources
DiGeorge syndrome	DVL1*, DVL1P1*	Dvl1		Alliance of Genome Resources
DiGeorge syndrome	ARVCF*	Arvcf	2 models	Alliance of Genome Resources
dihydropyrimidinase deficiency	DPYS*	Dpys		Alliance of Genome Resources
dilated cardiomyopathy 1AA	ACTN2*	Actn2		Alliance of Genome Resources
dilated cardiomyopathy 1B	FKTN*	Fktn		Alliance of Genome Resources
dilated cardiomyopathy 1E	SCN5A*	Scn5a	2 models	Alliance of Genome Resources
dilated cardiomyopathy 1II	CRYAB*	Cryab		Alliance of Genome Resources
dilated cardiomyopathy 1JJ	LAMA4*	Lama4		Alliance of Genome Resources
dilated cardiomyopathy 1KK	MYPN*	Mypn		Alliance of Genome Resources
dilated cardiomyopathy 1LL	PRDM16*	Prdm16		Alliance of Genome Resources
dilated cardiomyopathy 1MM	MYBPC3*	Mybpc3		Alliance of Genome Resources
dilated cardiomyopathy 1NN	RAF1*	Raf1		Alliance of Genome Resources
dilated cardiomyopathy 1S	MYH7*	Myh7		Alliance of Genome Resources
dilated cardiomyopathy 1U	PSEN1*	Psen1		Alliance of Genome Resources
dilated cardiomyopathy 1V	PSEN2*	Psen2		Alliance of Genome Resources
dilated cardiomyopathy 1X	FKTN*	Fktn		Alliance of Genome Resources
dilated cardiomyopathy 2A	TNNI3*	Tnni3		Alliance of Genome Resources
dilated cardiomyopathy 2B	GATAD1*	Gatad1		Alliance of Genome Resources
dilated cardiomyopathy 2C	PPCS*	Ppcs		Alliance of Genome Resources
dilated cardiomyopathy 2D	RPL3L*	Rpl3l		Alliance of Genome Resources
dilated cardiomyopathy 2E	JPH2*	Jph2		Alliance of Genome Resources
dilated cardiomyopathy 2G	LMOD2*	Lmod2		Alliance of Genome Resources
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	LMNA*	Lmna		Alliance of Genome Resources
dimethylglycine dehydrogenase deficiency	DMGDH*	Dmgdh		Alliance of Genome Resources
diphthamide deficiency syndrome 2	DPH2*	Dph2		Alliance of Genome Resources
distal arthrogryposis type 1A	TPM2*	Tpm2		Alliance of Genome Resources
distal arthrogryposis type 1B	MYBPC1*	Mybpc1		Alliance of Genome Resources
distal arthrogryposis type 1C	MYL11*	Mylpf		Alliance of Genome Resources
distal arthrogryposis type 2A	MYH3*	Myh3		Alliance of Genome Resources
distal arthrogryposis type 2B1	TNNI2*	Tnni2		Alliance of Genome Resources
distal arthrogryposis type 2B2	TNNT3*	Tnnt3		Alliance of Genome Resources
distal arthrogryposis type 2B3	MYH3*	Myh3		Alliance of Genome Resources
distal arthrogryposis type 3	PIEZO2*	Piezo2		Alliance of Genome Resources
distal arthrogryposis type 5	PIEZO2*	Piezo2		Alliance of Genome Resources
distal arthrogryposis type 5D	ECEL1*	Ecel1		Alliance of Genome Resources
distal arthrogryposis type 7	MYH8*	Myh8		Alliance of Genome Resources
distal myopathy 1	MYH7*	Myh7		Alliance of Genome Resources
distal myopathy 3	HNRNPA1*, HNRNPA1L2, HNRNPA1L3	Hnrnpa1		Alliance of Genome Resources
distal myopathy Tateyama type	CAV3*	Cav3		Alliance of Genome Resources
distal myopathy with anterior tibial onset	DYSF*	Dysf		Alliance of Genome Resources
distal myopathy with rimmed vacuoles	SQSTM1*	Sqstm1		Alliance of Genome Resources
dominant optic atrophy plus syndrome	OPA1*	Opa1		Alliance of Genome Resources
Donohue syndrome	INSR*	Insr	2 "NOT" models	Alliance of Genome Resources
DOORS syndrome	TBC1D24*	Tbc1d24		Alliance of Genome Resources
dopa-responsive dystonia	GCH1*	Gch1		Alliance of Genome Resources
Duane retraction syndrome 2	CHN1*	Chn1		Alliance of Genome Resources
Duane retraction syndrome 3	MAFB*	Mafb		Alliance of Genome Resources
Dyggve-Melchior-Clausen disease	DYM*	Dym		Alliance of Genome Resources
dysplastic nevus syndrome	CDKN2A*, CDKN2B	Cdkn2a, Cdkn2b	1 "NOT" model	Alliance of Genome Resources
dystonia 12	ATP1A3*	Atp1a3		Alliance of Genome Resources
dystonia 12	PLA2G6*	Pla2g6		Alliance of Genome Resources
dystonia 16	PRKRA*	Prkra		Alliance of Genome Resources
dystonia 22, adult-onset	TSPOAP1*	Tspoap1		Alliance of Genome Resources
dystonia 22, juvenile-onset	TSPOAP1*	Tspoap1		Alliance of Genome Resources
dystonia 24	ANO3*	Ano3		Alliance of Genome Resources
dystonia 25	GNAL*	Gnal		Alliance of Genome Resources
dystonia 27	COL6A3*	Col6a3		Alliance of Genome Resources
dystonia 28, childhood-onset	KMT2B*	Kmt2b		Alliance of Genome Resources
dystonia 30	VPS16*	Vps16		Alliance of Genome Resources
dystonia 31	AOPEP*	Aopep		Alliance of Genome Resources
dystonia 32	VPS11*	Vps11		Alliance of Genome Resources
dystonia 33	EIF2AK2*	Eif2ak2		Alliance of Genome Resources
dystonia 35, childhood-onset	SHQ1*	Shq1		Alliance of Genome Resources
dystonia 37, early-onset with striatal lesions	NUP54*	Nup54		Alliance of Genome Resources
dystonia 9	SLC2A1*	Slc2a1		Alliance of Genome Resources
dystransthyretinemic hyperthyroxinemia	TTR*	Ttr		Alliance of Genome Resources
early-onset ataxia with oculomotor apraxia and hypoalbuminemia	APTX*	Aptx		Alliance of Genome Resources
early-onset dystonia and/or spastic paraplegia	ATP5MC3*	Atp5mc3		Alliance of Genome Resources
early-onset epilepsy 2	SETD1A*	Setd1a		Alliance of Genome Resources
early-onset epilepsy 3	ATP6V0C*	Atp6v0c		Alliance of Genome Resources
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	MEGF10*	Megf10		Alliance of Genome Resources
early onset progressive encephalopathy with brain atrophy and thin corpus callosum	TBCD*	Tbcd		Alliance of Genome Resources
early-onset vitamin B6-dependent epilepsy 1	PLPBP*	Plpbp		Alliance of Genome Resources
early-onset vitamin B6-dependent epilepsy 4	ALDH7A1*	Aldh7a1		Alliance of Genome Resources
ectodermal dysplasia 10A	EDAR*	Edar		Alliance of Genome Resources
ectodermal dysplasia 10B	EDAR*	Edar		Alliance of Genome Resources
ectodermal dysplasia 11A	EDARADD*	Edaradd		Alliance of Genome Resources
ectodermal dysplasia 11B	EDARADD*	Edaradd		Alliance of Genome Resources
ectodermal dysplasia 12	KDF1*	Kdf1		Alliance of Genome Resources
ectodermal dysplasia 13	KREMEN1*	Kremen1		Alliance of Genome Resources
ectodermal dysplasia 14	TSPEAR*	Tspear		Alliance of Genome Resources
ectodermal dysplasia 15	CST6*	Cst6		Alliance of Genome Resources
ectodermal dysplasia 4	KRT85*	Krt85		Alliance of Genome Resources
ectodermal dysplasia 7	KRT74*	Krt74		Alliance of Genome Resources
ectodermal dysplasia 9	HOXC13*	Hoxc13		Alliance of Genome Resources
ectodermal dysplasia and immunodeficiency 2	NFKBIA*	Nfkbia		Alliance of Genome Resources
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	CDH3*	Cdh3		Alliance of Genome Resources
ectopia lentis with ectopia of pupil	ADAMTSL4*	Adamtsl4		Alliance of Genome Resources
EEC syndrome	TP63*	Trp63		Alliance of Genome Resources
Ehlers-Danlos syndrome arthrochalasia type 1	COL1A1*	Col1a1		Alliance of Genome Resources
Ehlers-Danlos syndrome arthrochalasia type 2	COL1A2*	Col1a2		Alliance of Genome Resources
Ehlers-Danlos syndrome cardiac valvular type	COL1A2*	Col1a2		Alliance of Genome Resources
Ehlers-Danlos syndrome classic-like 1	TNXB*, TNXA	Tnxb		Alliance of Genome Resources
Ehlers-Danlos syndrome classic-like 2	AEBP1*	Aebp1		Alliance of Genome Resources
Ehlers-Danlos syndrome classic type 2	COL5A2*	Col5a2		Alliance of Genome Resources
Ehlers-Danlos syndrome dermatosparaxis type	ADAMTS2*	Adamts2		Alliance of Genome Resources
Ehlers-Danlos syndrome kyphoscoliotic type 1	PLOD1*	Plod1		Alliance of Genome Resources
Ehlers-Danlos syndrome kyphoscoliotic type 2	FKBP14*	Fkbp14		Alliance of Genome Resources
Ehlers-Danlos syndrome musculocontractural type 1	CHST14*	Chst14		Alliance of Genome Resources
Ehlers-Danlos syndrome musculocontractural type 2	DSE*	Dse		Alliance of Genome Resources
Ehlers-Danlos syndrome periodontal type 1	C1R*	C1ra, C1rb		Alliance of Genome Resources
Ehlers-Danlos syndrome periodontal type 2	C1S*	C1s1, C1s2		Alliance of Genome Resources
Ehlers-Danlos syndrome spondylodysplastic type 1	B4GALT7*	B4galt7		Alliance of Genome Resources
Ehlers-Danlos syndrome spondylodysplastic type 2	B3GALT6*	B3galt6		Alliance of Genome Resources
Eiken syndrome	PTH1R*	Pth1r		Alliance of Genome Resources
Ellis-Van Creveld syndrome	WDR35*	Wdr35		Alliance of Genome Resources
encephalopathy due to defective mitochondrial and peroxisomal fission 2	MFF*	Mff		Alliance of Genome Resources
enterokinase deficiency	TMPRSS15*	Tmprss15		Alliance of Genome Resources
epidermodysplasia verruciformis	TMC8*	Tmc8		Alliance of Genome Resources
epidermodysplasia verruciformis	CIB1*	Cib1		Alliance of Genome Resources
epidermodysplasia verruciformis	TMC6*	Tmc6		Alliance of Genome Resources
epidermolysis bullosa simplex with mottled pigmentation	KRT5*	Krt5		Alliance of Genome Resources
epidermolysis bullosa with congenital localized absence of skin and deformity of nails	COL7A1*	Col7a1		Alliance of Genome Resources
epidermolytic hyperkeratosis 1	KRT1*	Krt1		Alliance of Genome Resources
epidermolytic palmoplantar keratoderma 1	KRT9*	Krt9		Alliance of Genome Resources
epidermolytic palmoplantar keratoderma 2	KRT1*	Krt1		Alliance of Genome Resources
episodic ataxia type 9	SCN2A*	Scn2a		Alliance of Genome Resources
episodic kinesigenic dyskinesia 3	TMEM151A*	Tmem151a		Alliance of Genome Resources
epithelial basement membrane dystrophy	TGFBI*	Tgfbi		Alliance of Genome Resources
epithelial recurrent erosion dystrophy	COL17A1*	Col17a1		Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 1	GJB3*	Gjb3		Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 2	GJB4*	Gjb4		Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 3	GJA1*	Gja1		Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 4	KDSR*	Kdsr		Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 5	KRT83*, KRT81, KRT86, KRT87P	Krt81, Krt83, Krt86, Krt87		Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 6	TRPM4*	Trpm4		Alliance of Genome Resources
essential fructosuria	KHK*	Khk		Alliance of Genome Resources
essential tremor 1	DRD3*	Drd3		Alliance of Genome Resources
essential tremor 4	FUS*	Fus		Alliance of Genome Resources
essential tremor 5	TENM4*	Tenm4		Alliance of Genome Resources
essential tremor 6	NOTCH2NLC*
exudative vitreoretinopathy 1	FZD4*	Fzd4		Alliance of Genome Resources
exudative vitreoretinopathy 4	LRP5*	Lrp5		Alliance of Genome Resources
exudative vitreoretinopathy 5	TSPAN12*	Tspan12		Alliance of Genome Resources
exudative vitreoretinopathy 6	ZNF408*	Zfp408		Alliance of Genome Resources
exudative vitreoretinopathy 7	CTNNB1*	Ctnnb1		Alliance of Genome Resources
factor V deficiency	LMAN1*	Lman1		Alliance of Genome Resources
factor VII deficiency	F7*	F7		Alliance of Genome Resources
factor X deficiency	F10*	F10		Alliance of Genome Resources
factor XIII deficiency	LMAN1*	Lman1		Alliance of Genome Resources
familial adenomatous polyposis	MUTYH*	Mutyh		Alliance of Genome Resources
familial adenomatous polyposis 1	APC*	Apc		Alliance of Genome Resources
familial adenomatous polyposis 2	MUTYH*	Mutyh		Alliance of Genome Resources
familial adenomatous polyposis 3	NTHL1*	Nthl1		Alliance of Genome Resources
familial adenomatous polyposis 4	MSH3*	Msh3		Alliance of Genome Resources
familial adult myoclonic epilepsy 1	SAMD12*	Samd12		Alliance of Genome Resources
familial adult myoclonic epilepsy 2	STARD7*	Stard7		Alliance of Genome Resources
familial adult myoclonic epilepsy 3	MARCHF6*	Marchf6		Alliance of Genome Resources
familial adult myoclonic epilepsy 4	YEATS2*	Yeats2		Alliance of Genome Resources
familial adult myoclonic epilepsy 5	CNTN2*	Cntn2		Alliance of Genome Resources
familial adult myoclonic epilepsy 6	TNRC6A*	Tnrc6a		Alliance of Genome Resources
familial adult myoclonic epilepsy 7	RAPGEF2*	Rapgef2		Alliance of Genome Resources
familial apolipoprotein A5 deficiency	APOA5*	Apoa5		Alliance of Genome Resources
familial apolipoprotein C-II deficiency	APOC2*	Apoc2, Apoc2l		Alliance of Genome Resources
familial Behcet-like autoinflammatory syndrome	TNFAIP3*	Tnfaip3		Alliance of Genome Resources
familial benign fleck retina	PLA2G5*	Pla2g5		Alliance of Genome Resources
familial cold autoinflammatory syndrome 2	NLRP12*	Nlrp12		Alliance of Genome Resources
familial cold autoinflammatory syndrome 3	PLCG2*	Plcg2		Alliance of Genome Resources
familial encephalopathy with neuroserpin inclusion bodies	SERPINB7*	Serpinb7		Alliance of Genome Resources
familial episodic pain syndrome 1	TRPA1*	Trpa1		Alliance of Genome Resources
familial episodic pain syndrome 2	SCN10A*	Scn10a		Alliance of Genome Resources
familial erythrocytosis 1	EPOR*	Epor	2 models	Alliance of Genome Resources
familial erythrocytosis 1	JAK2*	Jak2		Alliance of Genome Resources
familial erythrocytosis 1	SH2B3*	Sh2b3		Alliance of Genome Resources
familial erythrocytosis 3	EGLN1*	Egln1		Alliance of Genome Resources
familial erythrocytosis 5	EPO*	Epo		Alliance of Genome Resources
familial expansile osteolysis	TNFRSF11A*	Tnfrsf11a		Alliance of Genome Resources
familial focal epilepsy with variable foci 1	DEPDC5*	Depdc5		Alliance of Genome Resources
familial focal epilepsy with variable foci 2	NPRL2*	Nprl2		Alliance of Genome Resources
familial focal epilepsy with variable foci 3	NPRL3*	Nprl3		Alliance of Genome Resources
familial focal epilepsy with variable foci 4	SCN3A*	Scn3a		Alliance of Genome Resources
familial gestational hyperthyroidism	TSHR*	Tshr		Alliance of Genome Resources
familial GPIHBP1 deficiency	GPIHBP1*	Gpihbp1		Alliance of Genome Resources
familial hepatic adenoma	HNF1A*	Hnf1a		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 1	ABCC8*	Abcc8		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 2	KCNJ11*	Kcnj11		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 4	HADH*	Hadh		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 5	INSR*	Insr		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 6	GLUD1*, GLUD2	Glud1		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 7	SLC16A1*	Slc16a1		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 8	SLC25A36*	Slc25a36		Alliance of Genome Resources
familial hypertryptophanemia	TDO2*	Tdo2		Alliance of Genome Resources
familial hypocalciuric hypercalcemia 2	GNA11*	Gna11		Alliance of Genome Resources
familial hypocalciuric hypercalcemia 3	AP2S1*	Ap2s1		Alliance of Genome Resources
familial isolated trichomegaly	FGF5*	Fgf5		Alliance of Genome Resources
familial lipase maturation factor 1 deficiency	LMF1*	Lmf1		Alliance of Genome Resources
familial male-limited precocious puberty	LHCGR*	Lhcgr		Alliance of Genome Resources
familial Mediterranean fever	TLR4*	Tlr4		Alliance of Genome Resources
familial Mediterranean fever	SERPINE1*	Serpine1		Alliance of Genome Resources
familial Mediterranean fever	POMC*	Pomc		Alliance of Genome Resources
familial Mediterranean fever	ACE*	Ace		Alliance of Genome Resources
familial Mediterranean fever	NOD2*	Nod2		Alliance of Genome Resources
familial Mediterranean fever	ABCB1*	Abcb1a, Abcb1b		Alliance of Genome Resources
familial Mediterranean fever	MTHFR*	Mthfr		Alliance of Genome Resources
familial Mediterranean fever	CYP3A4*, CYP3A5, CYP3A7, CYP3A7-CYP3A51P, CYP3A43	Cyp3a11, Cyp3a13, Cyp3a16, Cyp3a25, Cyp3a41a, Cyp3a41b, Cyp3a44, Cyp3a57, Cyp3a59		Alliance of Genome Resources
familial medullary thyroid carcinoma	RET*	Ret	2 "NOT" models	Alliance of Genome Resources
familial partial lipodystrophy type 2	LMNA*	Lmna		Alliance of Genome Resources
familial partial lipodystrophy type 3	PPARG*	Pparg		Alliance of Genome Resources
familial partial lipodystrophy type 4	PLIN1*	Plin1		Alliance of Genome Resources
familial partial lipodystrophy type 5	CIDEC*	Cidec		Alliance of Genome Resources
familial partial lipodystrophy type 6	LIPE*	Lipe		Alliance of Genome Resources
familial progressive hyperpigmentation with or without hypopigmentation	KITLG*	Kitl		Alliance of Genome Resources
familial renal glucosuria	SLC5A2*	Slc5a2		Alliance of Genome Resources
familial restrictive cardiomyopathy 6	KIF20A*	Kif20a		Alliance of Genome Resources
familial temporal lobe epilepsy 5	CPA6*	Cpa6		Alliance of Genome Resources
familial temporal lobe epilepsy 7	RELN*	Reln		Alliance of Genome Resources
familial temporal lobe epilepsy 8	GAL*	Gal		Alliance of Genome Resources
Fanconi anemia complementation group E	FANCE*	Fance		Alliance of Genome Resources
Fanconi anemia complementation group I	FANCI*	Fanci		Alliance of Genome Resources
Fanconi anemia complementation group L	FANCL*	Fancl		Alliance of Genome Resources
Fanconi anemia complementation group O	RAD51C*	Rad51c		Alliance of Genome Resources
Fanconi anemia complementation group P	SLX4*	Slx4	1 "NOT" model	Alliance of Genome Resources
Fanconi anemia complementation group Q	ERCC4*	Ercc4		Alliance of Genome Resources
Fanconi anemia complementation group R	RAD51*	Rad51		Alliance of Genome Resources
Fanconi anemia complementation group S	BRCA1*	Brca1		Alliance of Genome Resources
Fanconi anemia complementation group T	UBE2T*	Ube2t		Alliance of Genome Resources
Fanconi anemia complementation group U	XRCC2*	Xrcc2		Alliance of Genome Resources
Fanconi anemia complementation group V	MAD2L2*	Mad2l2		Alliance of Genome Resources
Fanconi anemia complementation group W	RFWD3*	Rfwd3		Alliance of Genome Resources
Fanconi-Bickel syndrome	SLC2A2*	Slc2a2		Alliance of Genome Resources
Fanconi renotubular syndrome 1	GATM*	Gatm		Alliance of Genome Resources
Fanconi renotubular syndrome 2	SLC34A1*	Slc34a1		Alliance of Genome Resources
Fanconi renotubular syndrome 3	EHHADH*	Ehhadh		Alliance of Genome Resources
Fanconi renotubular syndrome 4	HNF4A*	Hnf4a		Alliance of Genome Resources
Fanconi renotubular syndrome 5	NDUFAF6*	Ndufaf6		Alliance of Genome Resources
Fazio-Londe disease	SLC52A3*	Slc52a3		Alliance of Genome Resources
Feingold syndrome	MYCN*	Mycn, Mycs		Alliance of Genome Resources
fetal akinesia deformation sequence syndrome 1	MUSK*	Musk		Alliance of Genome Resources
fetal akinesia deformation sequence syndrome 2	RAPSN*	Rapsn		Alliance of Genome Resources
fetal akinesia deformation sequence syndrome 3	DOK7*	Dok7		Alliance of Genome Resources
fetal akinesia deformation sequence syndrome 4	NUP88*	Nup88		Alliance of Genome Resources
fibrochondrogenesis 1	COL11A1*	Col11a1		Alliance of Genome Resources
fibrochondrogenesis 2	COL11A2*	Col11a2		Alliance of Genome Resources
Filippi syndrome	CKAP2L*	Ckap2l		Alliance of Genome Resources
Finnish type amyloidosis	GSN*	Gsn		Alliance of Genome Resources
Floating-Harbor syndrome	SRCAP*	Srcap		Alliance of Genome Resources
focal nonepidermolytic palmoplantar keratoderma 1	KRT16*	Krt16		Alliance of Genome Resources
focal nonepidermolytic palmoplantar keratoderma 2	TRPV3*	Trpv3		Alliance of Genome Resources
focal or diffuse nonepidermolytic palmoplantar keratoderma	KRT6C*, KRT6A, KRT6B	Gm5414, Gm5478, Krt6a, Krt6b		Alliance of Genome Resources
focal segmental glomerulosclerosis 5	INF2*	Inf2		Alliance of Genome Resources
focal segmental glomerulosclerosis 6	MYO1E*	Myo1e		Alliance of Genome Resources
focal segmental glomerulosclerosis 7	PAX2*	Pax2		Alliance of Genome Resources
focal segmental glomerulosclerosis 8	ANLN*	Anln		Alliance of Genome Resources
focal segmental glomerulosclerosis 9	CRB2*	Crb2		Alliance of Genome Resources
foveal hypoplasia 1	PAX6*	Pax6		Alliance of Genome Resources
Frank-Ter Haar syndrome	SH3PXD2B*	Sh3pxd2b		Alliance of Genome Resources
Fraser syndrome 1	FRAS1*	Fras1		Alliance of Genome Resources
Fraser syndrome 2	FREM2*	Frem2		Alliance of Genome Resources
Fraser syndrome 3	GRIP1*	Grip1		Alliance of Genome Resources
Frasier syndrome	WT1*	Wt1		Alliance of Genome Resources
Friedreich ataxia	ND1*	mt-Nd1		Alliance of Genome Resources
Friedreich ataxia	AGTR1*	Agtr1a, Agtr1b		Alliance of Genome Resources
Friedreich ataxia 1	FXN*	Fxn		Alliance of Genome Resources
frontometaphyseal dysplasia 2	MAP3K7*	Map3k7		Alliance of Genome Resources
frontonasal dysplasia 1	ALX3*	Alx3		Alliance of Genome Resources
frontonasal dysplasia 2	ALX4*	Alx4		Alliance of Genome Resources
fumarase deficiency	FH*	Fh1		Alliance of Genome Resources
galactose epimerase deficiency	GALE*	Gale		Alliance of Genome Resources
Galloway-Mowat syndrome 1	WDR73*	Wdr73		Alliance of Genome Resources
Galloway-Mowat syndrome 3	OSGEP*	Osgep		Alliance of Genome Resources
Galloway-Mowat syndrome 4	TP53RK*	Trp53rka, Trp53rkb		Alliance of Genome Resources
gamma-glutamyl transpeptidase deficiency	GGT1*, GGT2P, GGT3P, GGTLC1, GGTLC2, GGTLC3	Ggt1		Alliance of Genome Resources
GAPO syndrome	ANTXR1*	Antxr1		Alliance of Genome Resources
Gaucher's disease type III	GBA1*	Gba1		Alliance of Genome Resources
Gaucher's disease type IIIC	GBA1*	Gba1		Alliance of Genome Resources
gelatinous drop-like corneal dystrophy	TACSTD2*	Tacstd2		Alliance of Genome Resources
geleophysic dysplasia 2	FBN1*	Fbn1		Alliance of Genome Resources
geleophysic dysplasia 3	LTBP3*	Ltbp3		Alliance of Genome Resources
geroderma osteodysplasticum	GORAB*	Gorab		Alliance of Genome Resources
Ghosal hematodiaphyseal syndrome	TBXAS1*	Tbxas1		Alliance of Genome Resources
giant axonal neuropathy 2	DCAF8*	Dcaf8		Alliance of Genome Resources
Gillespie syndrome	ITPR1*	Itpr1		Alliance of Genome Resources
gingival fibromatosis 5	REST*	Rest		Alliance of Genome Resources
Gitelman syndrome	CLCNKB*, CLCNKA	Clcnka, Clcnkb		Alliance of Genome Resources
glomangioma	GLMN*	Glmn		Alliance of Genome Resources
glucocorticoid deficiency 1	MC2R*	Mc2r		Alliance of Genome Resources
glucose-galactose malabsorption	SLC5A1*	Slc5a1		Alliance of Genome Resources
glucose transporter type 1 deficiency syndrome	SLC2A1*	Slc2a1		Alliance of Genome Resources
glucose transporter type 1 deficiency syndrome 2	SLC2A1*	Slc2a1		Alliance of Genome Resources
glutamate formiminotransferase deficiency	FTCD*	Ftcd		Alliance of Genome Resources
glutatione synthetase deficiency with 5-oxoprolinuria	GSS*	Gss		Alliance of Genome Resources
glycine encephalopathy	AMT*	Amt		Alliance of Genome Resources
glycine encephalopathy 1	GLDC*	Gldc		Alliance of Genome Resources
glycine encephalopathy 2	AMT*	Amt		Alliance of Genome Resources
glycogen storage disease Ic	SLC37A4*	Slc37a4		Alliance of Genome Resources
glycogen storage disease IXc	PHKG2*	Phkg2		Alliance of Genome Resources
glycosylphosphatidylinositol biosynthesis defect 16	PIGC*	Pigc		Alliance of Genome Resources
GM1 gangliosidosis type 1	GLB1*	Glb1		Alliance of Genome Resources
GM1 gangliosidosis type 2	GLB1*	Glb1		Alliance of Genome Resources
GM1 gangliosidosis type 3	GLB1*	Glb1		Alliance of Genome Resources
GM2 gangliosidosis	GM2A*	Gm2a		Alliance of Genome Resources
GNE myopathy	GNE*	Gne		Alliance of Genome Resources
Gordon Holmes syndrome	RNF216*	Rnf216		Alliance of Genome Resources
granular corneal dystrophy 1	TGFBI*	Tgfbi		Alliance of Genome Resources
granular corneal dystrophy 2	TGFBI*	Tgfbi		Alliance of Genome Resources
gray platelet syndrome	GFI1B*	Gfi1b		Alliance of Genome Resources
Greenberg dysplasia	LBR*	Lbr		Alliance of Genome Resources
Griscelli syndrome type 2	RAB27A*	Rab27a	1 model	Alliance of Genome Resources
Griscelli syndrome type 3	MLPH*	Mlph		Alliance of Genome Resources
growth hormone insensitivity syndrome with immune dysregulation 1	STAT5B*	Stat5b		Alliance of Genome Resources
growth hormone insensitivity syndrome with immune dysregulation 2	STAT5B*	Stat5b		Alliance of Genome Resources
Guttmacher syndrome	HOXA13*	Hoxa13		Alliance of Genome Resources
Hailey-Hailey disease	ATP2C1*	Atp2c1	1 "NOT" model	Alliance of Genome Resources
Halperin-Birk syndrome	SEC31A*	Sec31a		Alliance of Genome Resources
Harel-Yoon syndrome	ATAD3A*, ATAD3B, ATAD3C	Atad3a		Alliance of Genome Resources
hawkinsinuria	HPD*	Hpd		Alliance of Genome Resources
Heimler syndrome 1	PEX1*	Pex1		Alliance of Genome Resources
Heimler syndrome 2	PEX6*	Pex6		Alliance of Genome Resources
Heinz body anemia	HBB*, HBD	Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt		Alliance of Genome Resources
Heinz body anemia	HBA1*, HBA2*	Hba-a1, Hba-a2		Alliance of Genome Resources
hemoglobin H disease	HBA1*, HBA2*	Hba-a1, Hba-a2		Alliance of Genome Resources
Hengel-Maroofian-Schols syndrome	BCAS3*	Bcas3		Alliance of Genome Resources
heparin cofactor II deficiency	SERPIND1*	Serpind1		Alliance of Genome Resources
hepatic venoocclusive disease with immunodeficiency	SP110*	Sp110		Alliance of Genome Resources
hereditary angioedema	ANGPT1*	Angpt1		Alliance of Genome Resources
hereditary angioedema	HS3ST6*	Hs3st6		Alliance of Genome Resources
hereditary angioedema	KNG1*	Kng1, Kng2		Alliance of Genome Resources
hereditary angioedema	MYOF*	Myof		Alliance of Genome Resources
hereditary angioedema	PLG*	Plg		Alliance of Genome Resources
hereditary angioedema	F12*	F12		Alliance of Genome Resources
hereditary angioedema	SERPING1*	Serping1		Alliance of Genome Resources
hereditary angioedema type I	SERPING1*	Serping1		Alliance of Genome Resources
hereditary angioedema type III	F12*	F12		Alliance of Genome Resources
hereditary arterial and articular multiple calcification syndrome	NT5E*	Nt5e		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	BRCA2*	Brca2		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	RAD51D*	Rad51d		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	RAD51C*	Rad51c		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	BRCA1*	Brca1	3 models	Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	PALB2*	Palb2		Alliance of Genome Resources
hereditary desmoid disease	APC*	Apc		Alliance of Genome Resources
hereditary diffuse gastric cancer	CDH1*	Cdh1		Alliance of Genome Resources
hereditary folate malabsorption	SLC46A1*	Slc46a1		Alliance of Genome Resources
hereditary hemorrhagic telangiectasia	SMAD4*	Smad4		Alliance of Genome Resources
hereditary hemorrhagic telangiectasia	GDF2*	Gdf2		Alliance of Genome Resources
hereditary lymphedema IA	FLT4*	Flt4		Alliance of Genome Resources
hereditary lymphedema IC	GJC2*	Gjc2		Alliance of Genome Resources
hereditary lymphedema ID	VEGFC*	Vegfc		Alliance of Genome Resources
hereditary mixed polyposis syndrome 2	BMPR1A*	Bmpr1a		Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 2	MLH1*	Mlh1		Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 4	PMS2*	Pms2		Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 5	MSH6*	Msh6		Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 6	TGFBR2*	Tgfbr2		Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 7	MLH3*	Mlh3		Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 8	EPCAM*	Epcam		Alliance of Genome Resources
hereditary pyropoikilocytosis	SPTA1*	Spta1		Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 1A	SPTLC1*	Sptlc1		Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 1C	SPTLC2*	Sptlc2		Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 2A	WNK1*	Wnk1		Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 2B	RETREG1*	Retreg1		Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 5	NGF*	Ngf	2 models	Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 7	SCN11A*	Scn11a		Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 8	PRDM12*	Prdm12		Alliance of Genome Resources
hereditary sensory neuropathy type 1D	ATL1*	Atl1		Alliance of Genome Resources
hereditary sensory neuropathy type 1E	DNMT1*	Dnmt1		Alliance of Genome Resources
hereditary sensory neuropathy type 1F	ATL3*	Atl3		Alliance of Genome Resources
hereditary sensory neuropathy type 2C	KIF1A*	Kif1a		Alliance of Genome Resources
hereditary sensory neuropathy type 4	NTRK1*	Ntrk1	1 model	Alliance of Genome Resources
hereditary spastic paraplegia 10	KIF5A*	Kif5a		Alliance of Genome Resources
hereditary spastic paraplegia 12	RTN2*	Rtn2		Alliance of Genome Resources
hereditary spastic paraplegia 17	BSCL2*	Bscl2		Alliance of Genome Resources
hereditary spastic paraplegia 23	DSTYK*	Dstyk		Alliance of Genome Resources
hereditary spastic paraplegia 26	B4GALNT1*	B4galnt1		Alliance of Genome Resources
hereditary spastic paraplegia 28	DDHD1*	Ddhd1		Alliance of Genome Resources
hereditary spastic paraplegia 39	PNPLA6*	Pnpla6		Alliance of Genome Resources
hereditary spastic paraplegia 3A	ATL1*	Atl1		Alliance of Genome Resources
hereditary spastic paraplegia 42	SLC33A1*	Slc33a1		Alliance of Genome Resources
hereditary spastic paraplegia 43	C19orf12*	1600014C10Rik		Alliance of Genome Resources
hereditary spastic paraplegia 44	GJC2*	Gjc2		Alliance of Genome Resources
hereditary spastic paraplegia 45	NT5C2*	Nt5c2		Alliance of Genome Resources
hereditary spastic paraplegia 46	GBA2*	Gba2		Alliance of Genome Resources
hereditary spastic paraplegia 47	AP4B1*	Ap4b1		Alliance of Genome Resources
hereditary spastic paraplegia 49	TECPR2*	Tecpr2		Alliance of Genome Resources
hereditary spastic paraplegia 50	AP4M1*	Ap4m1		Alliance of Genome Resources
hereditary spastic paraplegia 51	AP4E1*	Ap4e1		Alliance of Genome Resources
hereditary spastic paraplegia 52	AP4S1*	Ap4s1		Alliance of Genome Resources
hereditary spastic paraplegia 53	VPS37A*	Vps37a		Alliance of Genome Resources
hereditary spastic paraplegia 55	MTRFR*	Mtrfr		Alliance of Genome Resources
hereditary spastic paraplegia 56	CYP2U1*	Cyp2u1		Alliance of Genome Resources
hereditary spastic paraplegia 57	TFG*	Tfg		Alliance of Genome Resources
hereditary spastic paraplegia 5A	CYP7B1*	Cyp7b1		Alliance of Genome Resources
hereditary spastic paraplegia 6	NIPA1*	Nipa1		Alliance of Genome Resources
hereditary spastic paraplegia 61	ARL6IP1*	Arl6ip1		Alliance of Genome Resources
hereditary spastic paraplegia 62	ERLIN1*	Erlin1		Alliance of Genome Resources
hereditary spastic paraplegia 63	AMPD2*	Ampd2		Alliance of Genome Resources
hereditary spastic paraplegia 64	ENTPD1*	Entpd1		Alliance of Genome Resources
hereditary spastic paraplegia 70	MARS1*	Mars1		Alliance of Genome Resources
hereditary spastic paraplegia 72A	REEP2*	Reep2		Alliance of Genome Resources
hereditary spastic paraplegia 73	CPT1C*	Cpt1c		Alliance of Genome Resources
hereditary spastic paraplegia 74	IBA57*	Iba57		Alliance of Genome Resources
hereditary spastic paraplegia 75	MAG*	Mag		Alliance of Genome Resources
hereditary spastic paraplegia 76	CAPN1*	Capn1		Alliance of Genome Resources
hereditary spastic paraplegia 77	FARS2*	Fars2		Alliance of Genome Resources
hereditary spastic paraplegia 78	ATP13A2*	Atp13a2		Alliance of Genome Resources
hereditary spastic paraplegia 79A	UCHL1*	Uchl1		Alliance of Genome Resources
hereditary spastic paraplegia 79B	UCHL1*	Uchl1		Alliance of Genome Resources
hereditary spastic paraplegia 8	WASHC5*	Washc5	1 "NOT" model	Alliance of Genome Resources
hereditary spastic paraplegia 81	SELENOI*	Selenoi		Alliance of Genome Resources
hereditary spastic paraplegia 82	PCYT2*	Pcyt2		Alliance of Genome Resources
hereditary spastic paraplegia 83	HPDL*	Hpdl		Alliance of Genome Resources
hereditary spastic paraplegia 84	PI4KA*	Pi4ka		Alliance of Genome Resources
hereditary spastic paraplegia 85	RNF170*	Rnf170		Alliance of Genome Resources
hereditary spastic paraplegia 86	ABHD16A*	Abhd16a		Alliance of Genome Resources
hereditary spastic paraplegia 87	TMEM63C*	Tmem63c		Alliance of Genome Resources
hereditary spastic paraplegia 88	KPNA3*	Kpna3		Alliance of Genome Resources
hereditary spastic paraplegia 89	AMFR*	Amfr		Alliance of Genome Resources
hereditary spastic paraplegia 90A	SPTSSA*	Gm6993, Sptssa		Alliance of Genome Resources
hereditary spastic paraplegia 90B	SPTSSA*	Gm6993, Sptssa		Alliance of Genome Resources
hereditary spastic paraplegia 9A	ALDH18A1*	Aldh18a1		Alliance of Genome Resources
hereditary spastic paraplegia 9B	ALDH18A1*	Aldh18a1		Alliance of Genome Resources
hereditary spherocytosis type 2	SPTB*	Sptb		Alliance of Genome Resources
hereditary spherocytosis type 5	EPB42*	Epb42		Alliance of Genome Resources
hereditary systemic amyloidosis 2	FGA*	Fga		Alliance of Genome Resources
Hermansky-Pudlak syndrome	AP3D1*	Ap3d1		Alliance of Genome Resources
Hermansky-Pudlak syndrome	HPS5*	Hps5		Alliance of Genome Resources
Hermansky-Pudlak syndrome	HPS4*	Hps4		Alliance of Genome Resources
Hermansky-Pudlak syndrome	HPS6*	Hps6		Alliance of Genome Resources
Hermansky-Pudlak syndrome	HPS3*	Hps3		Alliance of Genome Resources
Hermansky-Pudlak syndrome	AP3B1*	Ap3b1		Alliance of Genome Resources
high molecular weight kininogen deficiency	KNG1*	Kng1, Kng2		Alliance of Genome Resources
histiocytosis-lymphadenopathy plus syndrome	SLC29A3*	Slc29a3		Alliance of Genome Resources
holoprosencephaly 12	CNOT1*	Cnot1		Alliance of Genome Resources
holoprosencephaly 4	TGIF1*	Tgif1	1 "NOT" model	Alliance of Genome Resources
holoprosencephaly 7	PTCH1*	Ptch1		Alliance of Genome Resources
holoprosencephaly 9	GLI2*	Gli2		Alliance of Genome Resources
Holt-Oram syndrome	SALL4*	Sall4		Alliance of Genome Resources
homocystinuria-megaloblastic anemia cblE type	MTRR*	Mtrr		Alliance of Genome Resources
hyaline fibromatosis syndrome	ANTXR2*	Antxr2		Alliance of Genome Resources
hydrolethalus syndrome 1	HYLS1*	Hyls1		Alliance of Genome Resources
hydrolethalus syndrome 2	KIF7*	Kif7		Alliance of Genome Resources
hydroxykynureninuria	KYNU*	Kynu		Alliance of Genome Resources
hyperalphalipoproteinemia 1	CETP*
hyperekplexia 4	ATAD1*	Atad1		Alliance of Genome Resources
hyperferritinemia-cataract syndrome	FTL*	Ftl1, Ftl2-ps		Alliance of Genome Resources
hyper IgE recurrent infection syndrome 2	DOCK8*	Dock8		Alliance of Genome Resources
hyper IgE recurrent infection syndrome 3	ZNF341*	Zfp341		Alliance of Genome Resources
hyper IgE recurrent infection syndrome 4	IL6ST*	Il6st		Alliance of Genome Resources
hyperphosphatasia with impaired intellectual development syndrome 1	PIGV*	Pigv		Alliance of Genome Resources
hyperphosphatasia with impaired intellectual development syndrome 2	PIGO*	Pigo		Alliance of Genome Resources
hyperphosphatasia with impaired intellectual development syndrome 3	PGAP2*	Pgap2		Alliance of Genome Resources
hyperphosphatasia with impaired intellectual development syndrome 4	PGAP3*	Pgap3		Alliance of Genome Resources
hyperphosphatasia with impaired intellectual development syndrome 5	PIGW*	Pigw		Alliance of Genome Resources
hyperphosphatasia with impaired intellectual development syndrome 6	PIGY*	Pigyl		Alliance of Genome Resources
hyperprolinemia type 1	PRODH*	Prodh		Alliance of Genome Resources
hyperprolinemia type 2	ALDH4A1*	Aldh4a1		Alliance of Genome Resources
hypertension and brachydactyly syndrome	PDE3A*	Pde3a		Alliance of Genome Resources
hypertrophic cardiomyopathy 27	ALPK3*	Alpk3		Alliance of Genome Resources
hypervalinemia and hyperleucine-isoleucinemia	BCAT2*	Bcat2		Alliance of Genome Resources
hypogonadotropic hypogonadism 10 with or without anosmia	TAC3*	Tac2		Alliance of Genome Resources
hypogonadotropic hypogonadism 14 with or without anosmia	WDR11*	Wdr11		Alliance of Genome Resources
hypogonadotropic hypogonadism 15 with or without anosmia	HS6ST1*	Hs6st1		Alliance of Genome Resources
hypogonadotropic hypogonadism 16 with or without anosmia	SEMA3A*	Sema3a		Alliance of Genome Resources
hypogonadotropic hypogonadism 17 with or without anosmia	SPRY4*	Spry4		Alliance of Genome Resources
hypogonadotropic hypogonadism 18 with or without anosmia	IL17RD*	Il17rd		Alliance of Genome Resources
hypogonadotropic hypogonadism 19 with or without anosmia	DUSP6*	Dusp6		Alliance of Genome Resources
hypogonadotropic hypogonadism 20 with or without anosmia	FGF17*	Fgf17		Alliance of Genome Resources
hypogonadotropic hypogonadism 21 with or without anosmia	FLRT3*	Flrt3		Alliance of Genome Resources
hypogonadotropic hypogonadism 22 with or without anosmia	FEZF1*	Fezf1		Alliance of Genome Resources
hypogonadotropic hypogonadism 23 with or without anosmia	LHB*, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8	Lhb		Alliance of Genome Resources
hypogonadotropic hypogonadism 24 without anosmia	FSHB*	Fshb		Alliance of Genome Resources
hypogonadotropic hypogonadism 2 with or without anosmia	FGFR1*	Fgfr1		Alliance of Genome Resources
hypogonadotropic hypogonadism 3 with or without anosmia	PROKR2*	Prokr2		Alliance of Genome Resources
hypogonadotropic hypogonadism 4 with or without anosmia	PROK2*	Prok2		Alliance of Genome Resources
hypogonadotropic hypogonadism 5 with or without anosmia	CHD7*	Chd7		Alliance of Genome Resources
hypogonadotropic hypogonadism 6 with or without anosmia	FGF8*	Fgf8		Alliance of Genome Resources
hypogonadotropic hypogonadism 7 with or without anosmia	FGFR1*	Fgfr1		Alliance of Genome Resources
hypogonadotropic hypogonadism 7 with or without anosmia	NSMF*	Nsmf		Alliance of Genome Resources
hypogonadotropic hypogonadism 9 with or without anosmia	NSMF*	Nsmf		Alliance of Genome Resources
hypoinsulinemic hypoglycemia with hemihypertrophy	AKT2*	Akt2		Alliance of Genome Resources
hypomyelinating leukodystrophy 10	PYCR2*	Pycr2		Alliance of Genome Resources
hypomyelinating leukodystrophy 11	POLR1C*	Polr1c		Alliance of Genome Resources
hypomyelinating leukodystrophy 12	VPS11*	Vps11		Alliance of Genome Resources
hypomyelinating leukodystrophy 13	HIKESHI*	Hikeshi		Alliance of Genome Resources
hypomyelinating leukodystrophy 14	UFM1*	Ufm1		Alliance of Genome Resources
hypomyelinating leukodystrophy 15	EPRS1*	Eprs1		Alliance of Genome Resources
hypomyelinating leukodystrophy 16	TMEM106B*	Tmem106b		Alliance of Genome Resources
hypomyelinating leukodystrophy 17	AIMP2*	Aimp2		Alliance of Genome Resources
hypomyelinating leukodystrophy 18	DEGS1*	Degs1, Degs1l		Alliance of Genome Resources
hypomyelinating leukodystrophy 19	TMEM63A*	Tmem63a		Alliance of Genome Resources
hypomyelinating leukodystrophy 20	CNP*	Cnp		Alliance of Genome Resources
hypomyelinating leukodystrophy 21	POLR3K*	Polr3k		Alliance of Genome Resources
hypomyelinating leukodystrophy 22	CLDN11*	Cldn11		Alliance of Genome Resources
hypomyelinating leukodystrophy 23	RNF220*	Rnf220		Alliance of Genome Resources
hypomyelinating leukodystrophy 24	ATP11A*	Atp11a		Alliance of Genome Resources
hypomyelinating leukodystrophy 25	TMEM163*	Tmem163		Alliance of Genome Resources
hypomyelinating leukodystrophy 26	SLC35B2*	Slc35b2		Alliance of Genome Resources
hypomyelinating leukodystrophy 3	AIMP1*	Aimp1		Alliance of Genome Resources
hypomyelinating leukodystrophy 4	HSPD1*	Hspd1		Alliance of Genome Resources
hypomyelinating leukodystrophy 5	HYCC1*	Hycc1		Alliance of Genome Resources
hypomyelinating leukodystrophy 8	POLR3B*	Polr3b		Alliance of Genome Resources
hypomyelinating leukodystrophy 9	RARS1*	Rars1		Alliance of Genome Resources
hypoparathyroidism-retardation-dysmorphism syndrome	TBCE*	Tbce		Alliance of Genome Resources
hypophosphatasia	ALPL*	Alpl		Alliance of Genome Resources
hypophosphatemic nephrolithiasis/osteoporosis 1	SLC34A1*	Slc34a1		Alliance of Genome Resources
hypophosphatemic nephrolithiasis/osteoporosis 2	NHERF1*	Nherf1		Alliance of Genome Resources
hypoplastic or aplastic tibia with polydactyly	SHH*	Shh		Alliance of Genome Resources
hypotonia, ataxia, and delayed development syndrome	EBF3*	Ebf3		Alliance of Genome Resources
hypotrichosis 1	SNRPE*	Snrpe		Alliance of Genome Resources
hypotrichosis 1	APCDD1*	Apcdd1		Alliance of Genome Resources
hypotrichosis 11	SNRPE*	Snrpe		Alliance of Genome Resources
hypotrichosis 12	RPL21*	Rpl21		Alliance of Genome Resources
hypotrichosis 15	C3orf52*	BC016579		Alliance of Genome Resources
hypotrichosis 2	CDSN*	Cdsn		Alliance of Genome Resources
hypotrichosis 3	KRT74*	Krt74		Alliance of Genome Resources
hypotrichosis 4	HRURF*
hypotrichosis 5	EPS8L3*	Eps8l3		Alliance of Genome Resources
hypotrichosis 7	LIPH*	Liph		Alliance of Genome Resources
hypotrichosis 8	LPAR6*	Lpar6		Alliance of Genome Resources
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	SOX18*	Sox18		Alliance of Genome Resources
hypotrichosis-lymphedema-telangiectasia syndrome	SOX18*	Sox18		Alliance of Genome Resources
ichthyosis vulgaris	FLG*
idiopathic pulmonary fibrosis	SFTPA2*, SFTPA1	Sftpa1		Alliance of Genome Resources
idiopathic pulmonary fibrosis	TERT*	Tert		Alliance of Genome Resources
idiopathic pulmonary fibrosis	MUC5B*	Muc5b		Alliance of Genome Resources
idiopathic pulmonary fibrosis	HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5	H2-Eb1, H2-Eb2		Alliance of Genome Resources
idiopathic pulmonary fibrosis	PTGS2*	Ptgs2		Alliance of Genome Resources
idiopathic pulmonary fibrosis	EHMT2*	Ehmt2		Alliance of Genome Resources
idiopathic pulmonary fibrosis	SETD2*	Setd2		Alliance of Genome Resources
idiopathic pulmonary fibrosis	CXCL5*, CXCL6	Cxcl5		Alliance of Genome Resources
idiopathic pulmonary fibrosis	BRD4*	Brd4		Alliance of Genome Resources
immunodeficiency 10	STIM1*	Stim1		Alliance of Genome Resources
immunodeficiency 100	OAS1*	Oas1a, Oas1b, Oas1c, Oas1d, Oas1e, Oas1f, Oas1g, Oas1h		Alliance of Genome Resources
immunodeficiency 101	POLR3F*	Polr3f		Alliance of Genome Resources
immunodeficiency 106	IFNAR1*	Ifnar1		Alliance of Genome Resources
immunodeficiency 107	OTULIN*	Otulin		Alliance of Genome Resources
immunodeficiency 108	CEBPE*	Cebpe		Alliance of Genome Resources
immunodeficiency 109	TNFRSF9*	Tnfrsf9		Alliance of Genome Resources
immunodeficiency 112	MAP3K14*	Map3k14		Alliance of Genome Resources
immunodeficiency 114	SLC19A1*	Slc19a1		Alliance of Genome Resources
immunodeficiency 115	RNF31*	Rnf31		Alliance of Genome Resources
immunodeficiency 116	CD8A*	Cd8a		Alliance of Genome Resources
immunodeficiency 117	IRF1*	Irf1		Alliance of Genome Resources
immunodeficiency 119	ICOSLG*	Icosl		Alliance of Genome Resources
immunodeficiency 11A	CARD11*	Card11		Alliance of Genome Resources
immunodeficiency 11B	CARD11*	Card11		Alliance of Genome Resources
immunodeficiency 12	MALT1*	Malt1		Alliance of Genome Resources
immunodeficiency 120	POLD1*	Pold1		Alliance of Genome Resources
immunodeficiency 121	PSMB10*	Psmb10		Alliance of Genome Resources
immunodeficiency 122	POLD3*	Pold3		Alliance of Genome Resources
immunodeficiency 123	CD28*	Cd28		Alliance of Genome Resources
immunodeficiency 125	FLT3LG*	Flt3l		Alliance of Genome Resources
immunodeficiency 127	TNF*	Tnf		Alliance of Genome Resources
immunodeficiency 128	COPG1*	Copg1		Alliance of Genome Resources
immunodeficiency 129	RHOH*	Rhoh		Alliance of Genome Resources
immunodeficiency 13	UNC119*	Unc119		Alliance of Genome Resources
immunodeficiency 132A	TRAF3*	Traf3		Alliance of Genome Resources
immunodeficiency 132B	TRAF3*	Traf3		Alliance of Genome Resources
immunodeficiency 133	ARPC5*	Arpc5		Alliance of Genome Resources
immunodeficiency 15B	IKBKB*	Ikbkb		Alliance of Genome Resources
immunodeficiency 16	TNFRSF4*	Tnfrsf4		Alliance of Genome Resources
immunodeficiency 17	CD3G*	Cd3g		Alliance of Genome Resources
immunodeficiency 18	CD3E*	Cd3e		Alliance of Genome Resources
immunodeficiency 19	CD3D*	Cd3d		Alliance of Genome Resources
immunodeficiency 20	FCGR3A*, FCGR3B	Fcgr4		Alliance of Genome Resources
immunodeficiency 21	GATA2*	Gata2		Alliance of Genome Resources
immunodeficiency 22	LCK*	Lck		Alliance of Genome Resources
immunodeficiency 23	PGM3*	Pgm3		Alliance of Genome Resources
immunodeficiency 24	CTPS1*	Ctps1	1 "NOT" model	Alliance of Genome Resources
immunodeficiency 25	CD247*	Cd247		Alliance of Genome Resources
immunodeficiency 26	PRKDC*	Prkdc		Alliance of Genome Resources
immunodeficiency 27A	IFNGR1*	Ifngr1		Alliance of Genome Resources
immunodeficiency 27B	IFNGR1*	Ifngr1		Alliance of Genome Resources
immunodeficiency 28	IFNGR2*	Ifngr2		Alliance of Genome Resources
immunodeficiency 29	IL12B*	Il12b		Alliance of Genome Resources
immunodeficiency 30	IL12RB1*	Il12rb1		Alliance of Genome Resources
immunodeficiency 31A	STAT1*	Stat1		Alliance of Genome Resources
immunodeficiency 31B	STAT1*	Stat1		Alliance of Genome Resources
immunodeficiency 31C	STAT1*	Stat1		Alliance of Genome Resources
immunodeficiency 32A	IRF8*	Irf8		Alliance of Genome Resources
immunodeficiency 32B	IRF8*	Irf8		Alliance of Genome Resources
immunodeficiency 35	TYK2*	Tyk2		Alliance of Genome Resources
immunodeficiency 36	PIK3R1*	Pik3r1		Alliance of Genome Resources
immunodeficiency 37	BCL10*	Bcl10		Alliance of Genome Resources
immunodeficiency 38	ISG15*	Isg15		Alliance of Genome Resources
immunodeficiency 39	IRF7*	Irf7		Alliance of Genome Resources
immunodeficiency 40	DOCK2*	Dock2		Alliance of Genome Resources
immunodeficiency 41	IL2RA*	Il2ra		Alliance of Genome Resources
immunodeficiency 42	RORC*	Rorc		Alliance of Genome Resources
immunodeficiency 43	B2M*	B2m		Alliance of Genome Resources
immunodeficiency 44	STAT2*	Stat2		Alliance of Genome Resources
immunodeficiency 45	IFNAR2*	Ifnar2		Alliance of Genome Resources
immunodeficiency 46	TFRC*	Tfrc		Alliance of Genome Resources
immunodeficiency 48	ZAP70*	Zap70		Alliance of Genome Resources
immunodeficiency 49	BCL11B*	Bcl11b		Alliance of Genome Resources
immunodeficiency 51	IL17RA*	Il17ra		Alliance of Genome Resources
immunodeficiency 52	LAT*	Lat		Alliance of Genome Resources
immunodeficiency 53	RELB*	Relb		Alliance of Genome Resources
immunodeficiency 54	MCM4*	Mcm4		Alliance of Genome Resources
immunodeficiency 55	GINS1*	Gins1		Alliance of Genome Resources
immunodeficiency 56	IL21R*	Il21r		Alliance of Genome Resources
immunodeficiency 57	RIPK1*	Ripk1		Alliance of Genome Resources
immunodeficiency 58	CARMIL2*	Carmil2		Alliance of Genome Resources
immunodeficiency 59	HYOU1*	Hyou1		Alliance of Genome Resources
immunodeficiency 60	BACH2*	Bach2		Alliance of Genome Resources
immunodeficiency 61	SH3KBP1*	Sh3kbp1		Alliance of Genome Resources
immunodeficiency 62	ARHGEF1*	Arhgef1		Alliance of Genome Resources
immunodeficiency 63	IL2RB*	Il2rb		Alliance of Genome Resources
immunodeficiency 64	RASGRP1*	Rasgrp1		Alliance of Genome Resources
immunodeficiency 65	IRF9*	Irf9		Alliance of Genome Resources
immunodeficiency 66	MRTFA*	Mrtfa		Alliance of Genome Resources
immunodeficiency 69	IFNG*	Ifng		Alliance of Genome Resources
immunodeficiency 7	TRAC*, TRA	Trac		Alliance of Genome Resources
immunodeficiency 70	IVNS1ABP*	Ivns1abp		Alliance of Genome Resources
immunodeficiency 71	ARPC1B*	Arpc1b		Alliance of Genome Resources
immunodeficiency 72	NCKAP1L*	Nckap1l		Alliance of Genome Resources
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	RAC2*	Rac2		Alliance of Genome Resources
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	RAC2*	Rac2		Alliance of Genome Resources
immunodeficiency 79	CD4*	Cd4		Alliance of Genome Resources
immunodeficiency 80	MCM10*	Mcm10		Alliance of Genome Resources
immunodeficiency 81	LCP2*	Lcp2		Alliance of Genome Resources
immunodeficiency 82	SYK*	Syk		Alliance of Genome Resources
immunodeficiency 84	IKZF3*	Ikzf3		Alliance of Genome Resources
immunodeficiency 85	TOM1*	Tom1		Alliance of Genome Resources
immunodeficiency 86	SPPL2A*	Sppl2a		Alliance of Genome Resources
immunodeficiency 87	DEF6*	Def6		Alliance of Genome Resources
immunodeficiency 88	TBX21*	Tbx21		Alliance of Genome Resources
immunodeficiency 89	CARD10*	Card10		Alliance of Genome Resources
immunodeficiency 9	ORAI1*	Orai1		Alliance of Genome Resources
immunodeficiency 90	FADD*	Fadd		Alliance of Genome Resources
immunodeficiency 91	ZNFX1*	Znfx1		Alliance of Genome Resources
immunodeficiency 92	REL*	Rel		Alliance of Genome Resources
immunodeficiency 93	FNIP1*	Fnip1		Alliance of Genome Resources
immunodeficiency 94	IL6ST*	Il6st		Alliance of Genome Resources
immunodeficiency 95	IFIH1*	Ifih1		Alliance of Genome Resources
immunodeficiency 96	LIG1*	Lig1		Alliance of Genome Resources
immunodeficiency 97	PIK3CG*	Pik3cg		Alliance of Genome Resources
immunodeficiency 99	CTNNBL1*	Ctnnbl1		Alliance of Genome Resources
immunodeficiency-centromeric instability-facial anomalies syndrome 2	ZBTB24*	Zbtb24		Alliance of Genome Resources
immunodeficiency-centromeric instability-facial anomalies syndrome 3	CDCA7*	Cdca7		Alliance of Genome Resources
immunodeficiency-centromeric instability-facial anomalies syndrome 4	HELLS*	Hells		Alliance of Genome Resources
immunodeficiency with hyper IgM type 3	CD40*	Cd40		Alliance of Genome Resources
immunodeficiency with hyper IgM type 5	UNG*	Ung		Alliance of Genome Resources
immunoglobulin alpha deficiency	HLA-DQB1*, HLA-DQB2	H2-Ab1		Alliance of Genome Resources
immunoglobulin alpha deficiency	CTLA4*	Ctla4		Alliance of Genome Resources
immunoglobulin alpha deficiency	ICOS*	Icos		Alliance of Genome Resources
inclusion body myopathy and brain white matter abnormalities	ANXA11*	Anxa11		Alliance of Genome Resources
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1	VCP*	Vcp		Alliance of Genome Resources
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2	HNRNPA2B1*	Hnrnpa2b1		Alliance of Genome Resources
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3	HNRNPA1*, HNRNPA1L2, HNRNPA1L3	Hnrnpa1		Alliance of Genome Resources
infantile cerebellar-retinal degeneration	ACO2*	Aco2		Alliance of Genome Resources
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	MED17*	Med17		Alliance of Genome Resources
infantile hypotonia with psychomotor retardation and characteristic facies-3	TBCK*	Tbck		Alliance of Genome Resources
infantile liver failure syndrome 1	LARS1*	Lars1		Alliance of Genome Resources
infantile-onset myofibrillar myopathy 12 with cardiomyopathy	MYL2*	Myl2		Alliance of Genome Resources
infantile-onset myofibrillar myopathy-2B	CRYAB*	Cryab		Alliance of Genome Resources
infantile parkinsonism-dystonia 2	SLC18A2*	Slc18a2		Alliance of Genome Resources
inflammatory bowel disease 25	IL10RB*	Il10rb		Alliance of Genome Resources
inflammatory bowel disease 28	IL10RA*	Il10ra		Alliance of Genome Resources
inflammatory bowel disease 29	INAVA*	Inava		Alliance of Genome Resources
inflammatory bowel disease 30	CARD8*
inflammatory poikiloderma with hair abnormalities and acral keratoses	LTV1*	Ltv1		Alliance of Genome Resources
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	PUS7*	Pus7		Alliance of Genome Resources
intellectual developmental disorder with autistic features and language delay, with or without seizures	TANC2*	Tanc2		Alliance of Genome Resources
intellectual developmental disorder with cardiac arrhythmia	GNB5*	Gnb5		Alliance of Genome Resources
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	TNPO2*	Tnpo2		Alliance of Genome Resources
intellectual developmental disorder with short stature and behavioral abnormalities	IQSEC1*	Iqsec1		Alliance of Genome Resources
intellectual disability-severe speech delay-mild dysmorphism syndrome	FOXP1*	Foxp1		Alliance of Genome Resources
intermediate spinal muscular atrophy	SMN1*, SMN2	Smn1	1 model	Alliance of Genome Resources
interstitial lung disease 1	SFTPA1*, SFTPA2	Sftpa1		Alliance of Genome Resources
interstitial lung disease 2	SFTPA2*, SFTPA1	Sftpa1		Alliance of Genome Resources
interstitial lung disease 2	MUC5B*	Muc5b		Alliance of Genome Resources
intrahepatic cholestasis of pregnancy 1	ATP8B1*	Atp8b1		Alliance of Genome Resources
intrahepatic cholestasis of pregnancy 3	ABCB4*	Abcb4		Alliance of Genome Resources
ischiocoxopodopatellar syndrome	TBX4*	Tbx4		Alliance of Genome Resources
isolated elevated serum creatine phosphokinase levels	ANO5*	Ano5		Alliance of Genome Resources
isolated elevated serum creatine phosphokinase levels	CAV3*	Cav3		Alliance of Genome Resources
isolated hyperchlorhidrosis	CA12*	Car12		Alliance of Genome Resources
isolated microphthalmia 2	VSX2*	Vsx2		Alliance of Genome Resources
isolated microphthalmia 3	RAX*	Rax		Alliance of Genome Resources
isolated microphthalmia 5	MFRP*, C1QTNF5	C1qtnf5, Mfrp		Alliance of Genome Resources
isolated microphthalmia 7	GDF3*	Gdf3		Alliance of Genome Resources
isolated microphthalmia 8	ALDH1A3*	Aldh1a3		Alliance of Genome Resources
isolated sulfite oxidase deficiency	SUOX*	Suox		Alliance of Genome Resources
ITM2B-related cerebral amyloid angiopathy 1	ITM2B*	Itm2b		Alliance of Genome Resources
ITM2B-related cerebral amyloid angiopathy 2	ITM2B*	Itm2b		Alliance of Genome Resources
IVIC syndrome	SALL4*	Sall4		Alliance of Genome Resources
Jackson-Weiss syndrome	FGFR1*	Fgfr1		Alliance of Genome Resources
Jackson-Weiss syndrome	FGFR2*	Fgfr2		Alliance of Genome Resources
Jalili syndrome	CNNM4*	Cnnm4		Alliance of Genome Resources
Jansen's metaphyseal chondrodysplasia	PTH1R*	Pth1r		Alliance of Genome Resources
junctional epidermolysis bullosa with pyloric atresia	ITGA6*	Itga6		Alliance of Genome Resources
juvenile amyotrophic lateral sclerosis type 27	SPTLC1*	Sptlc1		Alliance of Genome Resources
juvenile glaucoma	MYOC*	Myoc		Alliance of Genome Resources
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome	SMAD4*	Smad4		Alliance of Genome Resources
Kahrizi syndrome	SRD5A3*	Srd5a3		Alliance of Genome Resources
Kanzaki disease	NAGA*	Naga		Alliance of Genome Resources
Kenny-Caffey syndrome type 1	TBCE*	Tbce		Alliance of Genome Resources
Kenny-Caffey syndrome type 2	FAM111A*	Fam111a		Alliance of Genome Resources
keratosis palmoplantaris striata 1	DSG1*	Dsg1a, Dsg1b, Dsg1c		Alliance of Genome Resources
keratosis palmoplantaris striata 2	DSP*	Dsp		Alliance of Genome Resources
keratosis palmoplantaris striata 3	KRT1*	Krt1		Alliance of Genome Resources
keratosis pilaris atrophicans	LRP1*	Lrp1		Alliance of Genome Resources
King Denborough syndrome	RYR1*	Ryr1		Alliance of Genome Resources
Kleefstra syndrome 2	KMT2C*	Kmt2c		Alliance of Genome Resources
Klippel-Feil syndrome 1	GDF6*	Gdf6		Alliance of Genome Resources
Klippel-Feil syndrome 2	MEOX1*	Meox1		Alliance of Genome Resources
Klippel-Feil syndrome 3	GDF3*	Gdf3		Alliance of Genome Resources
Klippel-Feil syndrome 4	MYO18B*	Myo18b		Alliance of Genome Resources
Kniest dysplasia	COL2A1*	Col2a1		Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 1	FGFR2*	Fgfr2		Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 2	FGFR3*	Fgfr3		Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 3	FGF10*	Fgf10		Alliance of Genome Resources
Larsen-like syndrome B3GAT3 type	B3GAT3*	B3gat3		Alliance of Genome Resources
Larsen syndrome	FLNB*	Flnb		Alliance of Genome Resources
lateral meningocele syndrome	NOTCH3*	Notch3		Alliance of Genome Resources
Laurence-Moon syndrome	PNPLA6*	Pnpla6		Alliance of Genome Resources
Laurin-Sandrow syndrome	LMBR1*	Lmbr1		Alliance of Genome Resources
Leber congenital amaurosis 11	IMPDH1*	Impdh1		Alliance of Genome Resources
Leber congenital amaurosis 13	RDH12*	Rdh12		Alliance of Genome Resources
Leber congenital amaurosis 15	TULP1*	Tulp1		Alliance of Genome Resources
Leber congenital amaurosis 16	KCNJ13*	Kcnj13		Alliance of Genome Resources
Leber congenital amaurosis 17	GDF6*	Gdf6		Alliance of Genome Resources
Leber congenital amaurosis with early-onset deafness	TUBB4B*	Tubb4b		Alliance of Genome Resources
Legius syndrome	SPRED1*	Spred1		Alliance of Genome Resources
Lenz-Majewski hyperostotic dwarfism	PTDSS1*	Ptdss1		Alliance of Genome Resources
lethal congenital contracture syndrome	GLDN*	Gldn		Alliance of Genome Resources
lethal congenital contracture syndrome	ADCY6*	Adcy6		Alliance of Genome Resources
lethal congenital contracture syndrome	ADGRG6*	Adgrg6		Alliance of Genome Resources
lethal congenital contracture syndrome	CNTNAP1*	Cntnap1		Alliance of Genome Resources
lethal congenital contracture syndrome	DNM2*	Dnm2		Alliance of Genome Resources
lethal congenital contracture syndrome	NEK9*	Nek9		Alliance of Genome Resources
lethal congenital contracture syndrome	ZBTB42*	Zbtb42		Alliance of Genome Resources
lethal congenital contracture syndrome 1	GLE1*	Gle1		Alliance of Genome Resources
lethal congenital contracture syndrome 2	ERBB3*	Erbb3		Alliance of Genome Resources
lethal congenital contracture syndrome 3	PIP5K1C*	Pip5k1c		Alliance of Genome Resources
lethal congenital contracture syndrome 4	MYBPC1*	Mybpc1		Alliance of Genome Resources
leucine-sensitive hypoglycemia of infancy	ABCC8*	Abcc8		Alliance of Genome Resources
leukocyte adhesion deficiency	ITGB2*	Itgb2, Itgb2l		Alliance of Genome Resources
leukocyte adhesion deficiency 1	FERMT3*	Fermt3		Alliance of Genome Resources
leukoencephalopathy with vanishing white matter	EIF2B2*	Eif2b2		Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 1	EIF2B1*	Eif2b1		Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 2	EIF2B2*	Eif2b2		Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 3	EIF2B3*	Eif2b3		Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 4	EIF2B4*	Eif2b4		Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 5	EIF2B5*	Eif2b5		Alliance of Genome Resources
Leydig cell hypoplasia	LHCGR*	Lhcgr		Alliance of Genome Resources
Li-Fraumeni syndrome 1	TP53*	Trp53		Alliance of Genome Resources
Li-Fraumeni syndrome 2	CHEK2*	Chek2		Alliance of Genome Resources
lissencephaly 1	PAFAH1B1*	Pafah1b1		Alliance of Genome Resources
lissencephaly 10	CEP85L*	Cep85l		Alliance of Genome Resources
lissencephaly 3	TUBA1A*	Tuba1a		Alliance of Genome Resources
lissencephaly 4	NDE1*	Nde1		Alliance of Genome Resources
lissencephaly 5	LAMB1*	Lamb1		Alliance of Genome Resources
lissencephaly 6	KATNB1*	Katnb1		Alliance of Genome Resources
lissencephaly 7 with cerebellar hypoplasia	CDK5*	Cdk5		Alliance of Genome Resources
lissencephaly 8	TMTC3*	Tmtc3		Alliance of Genome Resources
lissencephaly 9 with complex brainstem malformation	MACF1*	Macf1		Alliance of Genome Resources
Loeys-Dietz syndrome 1	TGFBR1*	Tgfbr1		Alliance of Genome Resources
Loeys-Dietz syndrome 2	TGFBR2*	Tgfbr2		Alliance of Genome Resources
Loeys-Dietz syndrome 3	SMAD3*	Smad3		Alliance of Genome Resources
Loeys-Dietz syndrome 4	TGFB2*	Tgfb2		Alliance of Genome Resources
Loeys-Dietz syndrome 5	TGFB3*	Tgfb3		Alliance of Genome Resources
Loeys-Dietz syndrome 6	SMAD2*	Smad2		Alliance of Genome Resources
long QT syndrome 10	SCN4B*	Scn4b		Alliance of Genome Resources
long QT syndrome 11	AKAP9*	Akap9		Alliance of Genome Resources
long QT syndrome 12	SNTA1*	Snta1		Alliance of Genome Resources
long QT syndrome 13	KCNJ5*	Kcnj5		Alliance of Genome Resources
long QT syndrome 14	CALM1*	Calm1		Alliance of Genome Resources
long QT syndrome 15	CALM2*	Calm2		Alliance of Genome Resources
long QT syndrome 16	CALM3*	Calm3		Alliance of Genome Resources
long QT syndrome 2	ALG10B*, ALG10	Alg10		Alliance of Genome Resources
long QT syndrome 2	KCNH2*	Kcnh2		Alliance of Genome Resources
long QT syndrome 5	KCNE1*	Kcne1		Alliance of Genome Resources
long QT syndrome 6	KCNE2*	Kcne2		Alliance of Genome Resources
long QT syndrome 8	CACNA1C*	Cacna1c		Alliance of Genome Resources
long QT syndrome 9	CAV3*	Cav3		Alliance of Genome Resources
Luo-Schoch-Yamamoto syndrome	RNF2*	Rnf2		Alliance of Genome Resources
lymphedema-distichiasis syndrome	FOXC2*	Foxc2		Alliance of Genome Resources
lymphoproliferative syndrome 1	ITK*	Itk		Alliance of Genome Resources
lymphoproliferative syndrome 2	CD27*	Cd27		Alliance of Genome Resources
Lynch syndrome	RNASET2*	Rnaset2a, Rnaset2b		Alliance of Genome Resources
Lynch syndrome	RNASEL*	Rnasel		Alliance of Genome Resources
Lynch syndrome	ACVR2A*	Acvr2a		Alliance of Genome Resources
Lynch syndrome	ASTE1*	Aste1		Alliance of Genome Resources
Lynch syndrome	E2F4*	E2f4		Alliance of Genome Resources
Lynch syndrome	TGFBR2*	Tgfbr2		Alliance of Genome Resources
Lynch syndrome	TGFBR1*	Tgfbr1		Alliance of Genome Resources
Lynch syndrome	TCF4*	Tcf4		Alliance of Genome Resources
Lynch syndrome	GSTM1*, GSTM5	Gstm1, Gstm2, Gstm3, Gstm6		Alliance of Genome Resources
Lynch syndrome	TAF1B*	Taf1b		Alliance of Genome Resources
Lynch syndrome	GSTT1*	Gstt1		Alliance of Genome Resources
Lynch syndrome	KRAS*	Kras		Alliance of Genome Resources
Lynch syndrome	MARCKS*	Marcks		Alliance of Genome Resources
Lynch syndrome	SMAD4*	Smad4		Alliance of Genome Resources
Lynch syndrome	SMAD3*	Smad3		Alliance of Genome Resources
Lynch syndrome	MLH3*	Mlh3		Alliance of Genome Resources
Lynch syndrome	MRE11*	Mre11a		Alliance of Genome Resources
Lynch syndrome	SMAD2*	Smad2		Alliance of Genome Resources
Lynch syndrome	SLC22A9*, SLC22A10, SLC22A25	Slc22a19, Slc22a26, Slc22a27, Slc22a28, Slc22a29, Slc22a30		Alliance of Genome Resources
Lynch syndrome	MSH6*	Msh6		Alliance of Genome Resources
Lynch syndrome	PMS1*	Pms1		Alliance of Genome Resources
Lynch syndrome	PMS2*	Pms2		Alliance of Genome Resources
Lynch syndrome 1	MSH2*	Msh2		Alliance of Genome Resources
Machado-Joseph disease	BECN1*	Becn1		Alliance of Genome Resources
malignant hyperthermia	CACNG1*	Cacng1		Alliance of Genome Resources
malignant hyperthermia	CACNA1S*	Cacna1s		Alliance of Genome Resources
mandibuloacral dysplasia type B lipodystrophy	ZMPSTE24*	Zmpste24		Alliance of Genome Resources
mandibulofacial dysostosis, Guion-Almeida type	EFTUD2*	Eftud2	2 "NOT" models	Alliance of Genome Resources
Martsolf syndrome	RAB3GAP2*	Rab3gap2		Alliance of Genome Resources
maturity-onset diabetes of the young	HNF1A*	Hnf1a		Alliance of Genome Resources
maturity-onset diabetes of the young type 10	INS*	Ins1, Ins2		Alliance of Genome Resources
maturity-onset diabetes of the young type 11	BLK*	Blk		Alliance of Genome Resources
maturity-onset diabetes of the young type 13	KCNJ11*	Kcnj11		Alliance of Genome Resources
maturity-onset diabetes of the young type 14	APPL1*	Appl1		Alliance of Genome Resources
maturity-onset diabetes of the young type 6	NEUROD1*	Neurod1		Alliance of Genome Resources
maturity-onset diabetes of the young type 7	KLF11*	Klf11		Alliance of Genome Resources
maturity-onset diabetes of the young type 8	CEL*	Cel		Alliance of Genome Resources
maturity-onset diabetes of the young type 9	PAX4*	Pax4		Alliance of Genome Resources
McCune Albright syndrome	GNAS*	Gnas		Alliance of Genome Resources
McKusick-Kaufman syndrome	MKKS*	Mkks		Alliance of Genome Resources
Meckel syndrome 13	TMEM107*	Tmem107		Alliance of Genome Resources
Meesmann corneal dystrophy 1	KRT12*	Krt12		Alliance of Genome Resources
Meesmann corneal dystrophy 2	KRT3*
megalencephalic leukoencephalopathy with subcortical cysts 2A	HEPACAM*	Hepacam		Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts 2B	HEPACAM*	Hepacam		Alliance of Genome Resources
Meier-Gorlin syndrome 1	ORC1*	Orc1		Alliance of Genome Resources
Meier-Gorlin syndrome 2	ORC4*	Orc4		Alliance of Genome Resources
Meier-Gorlin syndrome 3	ORC6*	Orc6		Alliance of Genome Resources
Meier-Gorlin syndrome 4	CDT1*	Cdt1		Alliance of Genome Resources
Meier-Gorlin syndrome 5	CDC6*	Cdc6		Alliance of Genome Resources
Meier-Gorlin syndrome 6	GMNN*	Gmnn		Alliance of Genome Resources
Meier-Gorlin syndrome 7	CDC45*	Cdc45		Alliance of Genome Resources
Meier-Gorlin syndrome 8	MCM5*	Mcm5		Alliance of Genome Resources
melanoma and neural system tumor syndrome	CDKN2A*, CDKN2B	Cdkn2a, Cdkn2b		Alliance of Genome Resources
metachondromatosis	PTPN11*	Ptpn11		Alliance of Genome Resources
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome	RUNX2*	Runx2		Alliance of Genome Resources
metatropic dysplasia	TRPV4*	Trpv4		Alliance of Genome Resources
methemoglobinemia and ambiguous genitalia	CYB5A*	Cyb5a		Alliance of Genome Resources
microcephalic osteodysplastic primordial dwarfism type I	RNU4ATAC*
microcephaly and chorioretinopathy 1	TUBGCP6*	Tubgcp6		Alliance of Genome Resources
microcephaly and chorioretinopathy 2	PLK4*	Plk4		Alliance of Genome Resources
microcephaly and chorioretinopathy 3	TUBGCP4*	Tubgcp4		Alliance of Genome Resources
microcephaly, seizures, and developmental delay	PNKP*	Pnkp		Alliance of Genome Resources
microcephaly, short stature, and limb abnormalities	DONSON*	Donson		Alliance of Genome Resources
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	KIF11*	Kif11		Alliance of Genome Resources
mismatch repair cancer syndrome	ASTE1*	Aste1		Alliance of Genome Resources
mismatch repair cancer syndrome	TFDP1*, TFDP3	Tfdp1		Alliance of Genome Resources
mismatch repair cancer syndrome	MSH2*	Msh2		Alliance of Genome Resources
mismatch repair cancer syndrome	TGFBR2*	Tgfbr2		Alliance of Genome Resources
mismatch repair cancer syndrome	TP53*	Trp53		Alliance of Genome Resources
mismatch repair cancer syndrome	TAF1B*	Taf1b		Alliance of Genome Resources
mismatch repair cancer syndrome	SLC22A9*, SLC22A10, SLC22A25	Slc22a19, Slc22a26, Slc22a27, Slc22a28, Slc22a29, Slc22a30		Alliance of Genome Resources
mismatch repair cancer syndrome	RNASET2*	Rnaset2a, Rnaset2b		Alliance of Genome Resources
mismatch repair cancer syndrome	POLE*	Pole		Alliance of Genome Resources
mismatch repair cancer syndrome	PMS2*	Pms2		Alliance of Genome Resources
mismatch repair cancer syndrome	MSH6*	Msh6		Alliance of Genome Resources
mismatch repair cancer syndrome	MLH1*	Mlh1		Alliance of Genome Resources
Mitchell syndrome	ACOX1*	Acox1		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 1	SURF1*	Surf1		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 10	COX14*	Cox14		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 11	COX20*	Cox20		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 12	PET100*	Pet100		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 13	COA6*	Coa6		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 14	COA3*	Coa3		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 15	COX8A*	Cox8a		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 16	COX4I1*	Cox4i1		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 17	COA8*	Coa8		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 18	COX6A2*	Cox6a2		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 19	PET117*	Pet117		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 2	SCO2*	Sco2		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 20	COX5A*	Cox5a		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 21	COXFA4*	Coxfa4		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 22	COX16*	Cox16		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 23	COX11*	Cox11		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 3	COX10*	Cox10		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 4	SCO1*	Sco1		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 6	COX15*	Cox15		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 7	COX6B1*	Cox6b1		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 8	TACO1*	Taco1		Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 9	COA5*	Coa5		Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A	ATP5F1A*	Atp5f1a		Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B	ATP5F1A*	Atp5f1a		Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 5	ATP5F1D*	Atp5f1d		Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 7	ATP5PO*	Atp5po		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 1	TYMP*	Tymp	1 model	Alliance of Genome Resources
mitochondrial DNA depletion syndrome 11	MGME1*	Mgme1		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 12a	SLC25A4*	Slc25a4		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 12b	SLC25A4*	Slc25a4		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 13	FBXL4*	Fbxl4		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 15	TFAM*	Tfam		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 16	POLG2*	Polg2		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 16B	POLG2*	Polg2		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 17	MRM2*	Mrm2		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 18	SLC25A21*	Slc25a21		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 19	SLC25A10*	Slc25a10		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 20	LIG3*	Lig3		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 3	DGUOK*	Dguok		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 4b	POLG*	Polg		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 6	MPV17*	Mpv17		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 8a	RRM2B*	Rrm2b		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 8b	RRM2B*	Rrm2b		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 9	SUCLG1*	Suclg1		Alliance of Genome Resources
mitochondrial pyruvate carrier deficiency	MPC1*	Mpc1		Alliance of Genome Resources
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	ECHS1*	Echs1		Alliance of Genome Resources
mitochondrial trifunctional protein deficiency 1	HADHA*	Hadha		Alliance of Genome Resources
mitochondrial trifunctional protein deficiency 2	HADHB*	Hadhb		Alliance of Genome Resources
Miura type epiphyseal chondrodysplasia	NPR2*	Npr2		Alliance of Genome Resources
Miyoshi muscular dystrophy 1	DYSF*	Dysf		Alliance of Genome Resources
Miyoshi muscular dystrophy 3	ANO5*	Ano5		Alliance of Genome Resources
monilethrix	KRT81*, KRT83*, KRT86*, KRT87P	Krt81, Krt83, Krt86, Krt87		Alliance of Genome Resources
mosaic variegated aneuploidy syndrome 2	CEP57*	Cep57		Alliance of Genome Resources
mosaic variegated aneuploidy syndrome 3	TRIP13*	Trip13		Alliance of Genome Resources
mosaic variegated aneuploidy syndrome 4	CENATAC*	Cenatac		Alliance of Genome Resources
Muckle-Wells syndrome	IL1RN*	Il1rn		Alliance of Genome Resources
Muckle-Wells syndrome	NLRP3*	Nlrp3		Alliance of Genome Resources
mucolipidosis III alpha/beta	GNPTAB*	Gnptab		Alliance of Genome Resources
mucolipidosis III gamma	GNPTG*	Gnptg		Alliance of Genome Resources
mucopolysaccharidosis Ih	IDUA*	Idua		Alliance of Genome Resources
mucopolysaccharidosis Ih/s	IDUA*	Idua		Alliance of Genome Resources
mucopolysaccharidosis IVA	GALNS*	Galns		Alliance of Genome Resources
mucopolysaccharidosis type IIIA	SGSH*	Sgsh		Alliance of Genome Resources
mucopolysaccharidosis type IIIB	NAGLU*	Naglu		Alliance of Genome Resources
mucopolysaccharidosis type IIIC	HGSNAT*	Hgsnat		Alliance of Genome Resources
mucopolysaccharidosis type IIID	GNS*	Gns		Alliance of Genome Resources
mucopolysaccharidosis type IVB	GLB1*	Glb1		Alliance of Genome Resources
Muir-Torre syndrome	MSH2*	Msh2		Alliance of Genome Resources
Muir-Torre syndrome	MLH1*	Mlh1		Alliance of Genome Resources
Mullerian aplasia and hyperandrogenism	WNT4*	Wnt4		Alliance of Genome Resources
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly	CEP55*	Cep55		Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN*	Pign		Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 3	PIGT*	Pigt		Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 4	PIGQ*	Pigq		Alliance of Genome Resources
multiple cutaneous and mucosal venous malformations	TEK*	Tek		Alliance of Genome Resources
multiple endocrine neoplasia type 2A	RET*	Ret		Alliance of Genome Resources
multiple endocrine neoplasia type 4	CDKN1B*	Cdkn1b		Alliance of Genome Resources
multiple epiphyseal dysplasia 1	COMP*	Comp		Alliance of Genome Resources
multiple epiphyseal dysplasia 2	COL9A2*	Col9a2		Alliance of Genome Resources
multiple epiphyseal dysplasia 3	COL9A3*	Col9a3		Alliance of Genome Resources
multiple epiphyseal dysplasia 4	SLC26A2*	Slc26a2		Alliance of Genome Resources
multiple epiphyseal dysplasia 6	COL9A1*	Col9a1		Alliance of Genome Resources
multiple epiphyseal dysplasia 7	CANT1*	Cant1		Alliance of Genome Resources
multiple epiphyseal dysplasia with myopia and deafness	COL2A1*	Col2a1		Alliance of Genome Resources
multiple intestinal atresia	TTC7A*	Ttc7		Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 1	NFU1*	Nfu1		Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 2	BOLA3*	Bola3		Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 3	IBA57*	Iba57		Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 4	ISCA2*	Isca2		Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 5	ISCA1*	AK157302, Isca1		Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 6	PMPCB*	Pmpcb		Alliance of Genome Resources
multiple synostoses syndrome 1	GDF5*	Gdf5		Alliance of Genome Resources
multiple synostoses syndrome 1	NOG*	Nog		Alliance of Genome Resources
multiple synostoses syndrome 2	GDF5*	Gdf5		Alliance of Genome Resources
multiple synostoses syndrome 3	FGF9*	Fgf9		Alliance of Genome Resources
multiple synostoses syndrome 4	GDF6*	Gdf6		Alliance of Genome Resources
multiple types of congenital heart defects 6	GDF1*	Gdf1		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B14	GMPPB*	Gmppb		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B15	DPM3*	Dpm3		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B2	POMT2*	Pomt2		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B3	POMGNT1*	Pomgnt1		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B4	FKTN*	Fktn		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type C12	POMK*	Pomk		Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type C8	POMGNT2*	Pomgnt2		Alliance of Genome Resources
myoclonic-atonic epilepsy	TBC1D24*	Tbc1d24		Alliance of Genome Resources
myoclonic-atonic epilepsy	SLC6A1*	Slc6a1		Alliance of Genome Resources
myoclonic dystonia 26	KCTD17*	Kctd17		Alliance of Genome Resources
myoclonic dystonia 34	KCNN2*	Kcnn2		Alliance of Genome Resources
myofibrillar myopathy 10	SVIL*	Svil		Alliance of Genome Resources
myofibrillar myopathy 13 with rimmed vacuoles	HSPB8*	Hspb8		Alliance of Genome Resources
myofibrillar myopathy 3	MYOT*	Myot	1 "NOT" model	Alliance of Genome Resources
myofibrillar myopathy 4	LDB3*	Ldb3		Alliance of Genome Resources
myofibrillar myopathy 6	BAG3*	Bag3		Alliance of Genome Resources
myofibrillar myopathy 7	KY*	Ky		Alliance of Genome Resources
myofibrillar myopathy 8	PYROXD1*	Pyroxd1		Alliance of Genome Resources
myopathy with extrapyramidal signs	MICU1*	Micu1		Alliance of Genome Resources
N-acetylglutamate synthase deficiency	NAGS*	Nags		Alliance of Genome Resources
Naegeli-Franceschetti-Jadassohn syndrome	KRT14*	Krt14		Alliance of Genome Resources
Nagashima-type palmoplantar keratosis	SERPINB7*	Serpinb7		Alliance of Genome Resources
nemaline myopathy 4	TPM2*	Tpm2		Alliance of Genome Resources
nemaline myopathy 5B	TNNT1*	Tnnt1		Alliance of Genome Resources
nemaline myopathy 5C	TNNT1*	Tnnt1		Alliance of Genome Resources
nemaline myopathy 7	CFL2*	Cfl2		Alliance of Genome Resources
nemaline myopathy 9	KLHL41*	Klhl41		Alliance of Genome Resources
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome	ATAD3A*, ATAD3B, ATAD3C	Atad3a		Alliance of Genome Resources
neonatal-onset type II citrullinemia	SLC25A13*	Slc25a13		Alliance of Genome Resources
nephrogenic diabetes insipidus type 2	AQP2*	Aqp2		Alliance of Genome Resources
nephronophthisis	TMEM67*	Tmem67		Alliance of Genome Resources
nephronophthisis	IQCB1*	Iqcb1		Alliance of Genome Resources
nephronophthisis	NPHP1*	Nphp1		Alliance of Genome Resources
nephronophthisis	NPHP3*	Nphp3		Alliance of Genome Resources
nephronophthisis	NPHP4*	Nphp4		Alliance of Genome Resources
nephronophthisis	RPGRIP1L*	Rpgrip1l		Alliance of Genome Resources
nephronophthisis	SLC41A1*	Slc41a1		Alliance of Genome Resources
nephronophthisis 11	TMEM67*	Tmem67		Alliance of Genome Resources
nephronophthisis 12	TTC21B*	Ttc21b		Alliance of Genome Resources
nephronophthisis 13	WDR19*	Wdr19		Alliance of Genome Resources
nephronophthisis 14	ZNF423*	Zfp423		Alliance of Genome Resources
nephronophthisis 15	CEP164*	Cep164		Alliance of Genome Resources
nephronophthisis 16	ANKS6*	Anks6		Alliance of Genome Resources
nephronophthisis 18	CEP83*	Cep83		Alliance of Genome Resources
nephronophthisis 19	DCDC2*	Dcdc2a		Alliance of Genome Resources
nephronophthisis 20	MAPKBP1*	Mapkbp1		Alliance of Genome Resources
nephronophthisis 9	NEK8*	Nek8		Alliance of Genome Resources
nephronophthisis-like nephropathy 1	XPNPEP3*	Xpnpep3		Alliance of Genome Resources
nephrotic syndrome type 1	NPHS1*	Nphs1		Alliance of Genome Resources
nephrotic syndrome type 10	EMP2*	Emp2		Alliance of Genome Resources
nephrotic syndrome type 11	NUP107*	Nup107		Alliance of Genome Resources
nephrotic syndrome type 12	NUP93*	Nup93		Alliance of Genome Resources
nephrotic syndrome type 13	NUP205*	Nup205		Alliance of Genome Resources
nephrotic syndrome type 15	MAGI2*	Magi2		Alliance of Genome Resources
nephrotic syndrome type 16	KANK2*	Kank2		Alliance of Genome Resources
nephrotic syndrome type 17	NUP85*	Nup85		Alliance of Genome Resources
nephrotic syndrome type 18	NUP133*	Nup133		Alliance of Genome Resources
nephrotic syndrome type 19	NUP160*	Nup160		Alliance of Genome Resources
nephrotic syndrome type 2	PLCE1*	Plce1		Alliance of Genome Resources
nephrotic syndrome type 2	TRPC6*	Trpc6		Alliance of Genome Resources
nephrotic syndrome type 2	PLA2G7*	Pla2g7		Alliance of Genome Resources
nephrotic syndrome type 2	NPHS2*	Nphs2		Alliance of Genome Resources
nephrotic syndrome type 21	AVIL*	Avil		Alliance of Genome Resources
nephrotic syndrome type 22	NOS1AP*	Nos1ap		Alliance of Genome Resources
nephrotic syndrome type 23	KIRREL1*	Kirrel1		Alliance of Genome Resources
nephrotic syndrome type 3	PLCE1*	Plce1		Alliance of Genome Resources
nephrotic syndrome type 4	WT1*	Wt1		Alliance of Genome Resources
nephrotic syndrome type 5	LAMB2*	Lamb2		Alliance of Genome Resources
nephrotic syndrome type 6	PTPRO*	Ptpro		Alliance of Genome Resources
nephrotic syndrome type 7	DGKE*	Dgke		Alliance of Genome Resources
nephrotic syndrome type 8	ARHGDIA*	Arhgdia		Alliance of Genome Resources
nephrotic syndrome type 9	COQ8B*	Coq8b		Alliance of Genome Resources
NESCAV syndrome	KIF1A*	Kif1a		Alliance of Genome Resources
Nestor-Guillermo progeria syndrome	BANF1*	Banf1		Alliance of Genome Resources
neurodegeneration with brain iron accumulation 2b	PLA2G6*	Pla2g6		Alliance of Genome Resources
neurodegeneration with brain iron accumulation 3	FTL*	Ftl1, Ftl2-ps		Alliance of Genome Resources
neurodegeneration with brain iron accumulation 4	C19orf12*	1600014C10Rik		Alliance of Genome Resources
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	ADAT3*	Adat3		Alliance of Genome Resources
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	SHMT2*	Shmt2		Alliance of Genome Resources
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GEMIN5*	Gemin5		Alliance of Genome Resources
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	SRSF1*	Srsf1		Alliance of Genome Resources
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	SUPT16H*	Supt16		Alliance of Genome Resources
neurodevelopmental disorder with eye movement abnormalities and ataxia	FRMD5*	Frmd5		Alliance of Genome Resources
neurodevelopmental disorder with hypotonia and speech delay	EIF4A2*	Eif4a2		Alliance of Genome Resources
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	CACNA1C*	Cacna1c		Alliance of Genome Resources
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	MEF2C*	Mef2c		Alliance of Genome Resources
neurodevelopmental disorder with language delay and seizures	TIAM1*	Tiam1		Alliance of Genome Resources
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia	FLVCR1*	Flvcr1		Alliance of Genome Resources
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GEMIN4*	Gemin4		Alliance of Genome Resources
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	TRAPPC6B*	Trappc6b		Alliance of Genome Resources
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	INTS11*	Ints11		Alliance of Genome Resources
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss	PSMC1*	Psmc1		Alliance of Genome Resources
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	DPH5*	Dph5		Alliance of Genome Resources
neurodevelopmental disorder with spasticity and poor growth	UFC1*	Ufc1		Alliance of Genome Resources
neurodevelopmental disorder with spastic paraplegia and microcephaly	GPT2*	Gpt2		Alliance of Genome Resources
neurodevelopmental disorder with speech impairment and dysmorphic facies	SETD1A*	Setd1a		Alliance of Genome Resources
neurofibromatosis-Noonan syndrome	NF1*	Nf1		Alliance of Genome Resources
neurogenic scapuloperoneal syndrome Kaeser type	DES*	Des		Alliance of Genome Resources
neurogenic-type arthrogryposis multiplex congenita-2	ERGIC1*	Ergic1		Alliance of Genome Resources
neuronal ceroid lipofuscinosis 11	GRN*	Grn		Alliance of Genome Resources
neuronal ceroid lipofuscinosis 13	CTSF*	Ctsf		Alliance of Genome Resources
neuronal ceroid lipofuscinosis 4	DNAJC5*	Dnajc5		Alliance of Genome Resources
neuronal ceroid lipofuscinosis 6B	CLN6*	Cln6		Alliance of Genome Resources
neuronal ceroid lipofuscinosis 8 northern epilepsy variant	CLN8*	Cln8		Alliance of Genome Resources
neuronal intranuclear inclusion disease	NOTCH2NLC*
neurooculocardiogenitourinary syndrome	WDR37*	Wdr37		Alliance of Genome Resources
nevoid basal cell carcinoma syndrome 1	PTCH1*	Ptch1		Alliance of Genome Resources
NFIA-related disorder	NFIA*	Nfia		Alliance of Genome Resources
Nicolaides-Baraitser syndrome	SMARCA2*	Smarca2		Alliance of Genome Resources
nonautoimmune hyperthyroidism	TSHR*	Tshr		Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 4	MPLKIP*	Mplkip, Mplkipl1		Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 6	GTF2E2*	Gtf2e2		Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 7	TARS1*	Tars1		Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 8	AARS1*	Aars1		Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 9	MARS1*	Mars1		Alliance of Genome Resources
nonprogressive cerebellar ataxia with mental retardation	CAMTA1*	Camta1		Alliance of Genome Resources
nonsyndromic congenital nail disorder 1	FZD6*	Fzd6		Alliance of Genome Resources
nonsyndromic congenital nail disorder 3	PLCD1*	Plcd1		Alliance of Genome Resources
nonsyndromic congenital nail disorder 4	RSPO4*	Rspo4		Alliance of Genome Resources
nonsyndromic congenital nail disorder 8	COL7A1*	Col7a1		Alliance of Genome Resources
Noonan syndrome 11	MRAS*	Mras		Alliance of Genome Resources
Noonan syndrome 12	RRAS2*	Rras2		Alliance of Genome Resources
Noonan syndrome 13	MAPK1*	Mapk1		Alliance of Genome Resources
Noonan syndrome 2	LZTR1*	Lztr1		Alliance of Genome Resources
Noonan syndrome 6	NRAS*	Nras		Alliance of Genome Resources
Noonan syndrome 7	BRAF*	Braf		Alliance of Genome Resources
Noonan syndrome 9	SOS2*	Sos2		Alliance of Genome Resources
Noonan syndrome with multiple lentigines 1	PTPN11*	Ptpn11		Alliance of Genome Resources
Noonan syndrome with multiple lentigines 2	RAF1*	Raf1		Alliance of Genome Resources
Noonan syndrome with multiple lentigines 3	BRAF*	Braf		Alliance of Genome Resources
Norman-Roberts syndrome	RELN*	Reln		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 1	NDUFS4*	Ndufs4		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 10	NDUFAF2*	Ndufaf2		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 11	NDUFAF1*	Ndufaf1		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 13	NDUFA2*	Ndufa2		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 14	NDUFA11*	Ndufa11		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 15	NDUFAF4*	Ndufaf4		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 16	NDUFAF5*	Ndufaf5		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 17	NDUFAF6*	Ndufaf6		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 18	NDUFAF3*	Ndufaf3		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 19	FOXRED1*	Foxred1		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 2	NDUFS8*	Ndufs8		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 21	NUBPL*	Nubpl		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 22	NDUFA10*	Ndufa10		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 23	NDUFA12*	Ndufa12		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 24	NDUFB9*	Ndufb9		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 25	NDUFB3*	Ndufb3		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 26	NDUFA9*	Ndufa9		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 27	MTFMT*	Mtfmt		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 28	NDUFA13*	Ndufa13		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 29	TMEM126B*	Tmem126b		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 3	NDUFS7*	Ndufs7		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 31	TIMMDC1*	Timmdc1		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 32	NDUFB8*	Ndufb8		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 33	NDUFA6*	Ndufa6		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 34	NDUFAF8*	Ndufaf8		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 35	NDUFB10*	Ndufb10		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 4	NDUFV1*	Ndufv1		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 5	NDUFS1*	Ndufs1		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 6	NDUFS2*	Ndufs2		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 7	NDUFV2*	Ndufv2		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 8	NDUFS3*	Ndufs3		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 9	NDUFS6*	Ndufs6		Alliance of Genome Resources
oblique facial clefting 1	SPECC1L*	Specc1l		Alliance of Genome Resources
oculocutaneous albinism	TYRP1*	Tyrp1		Alliance of Genome Resources
oculocutaneous albinism	HPS1*	Hps1		Alliance of Genome Resources
oculocutaneous albinism	DCT*	Dct		Alliance of Genome Resources
oculocutaneous albinism type IA	TYR*	Tyr		Alliance of Genome Resources
oculocutaneous albinism type IB	TYR*	Tyr		Alliance of Genome Resources
oculocutaneous albinism type II	OCA2*	Oca2		Alliance of Genome Resources
oculocutaneous albinism type II	MC1R*	Mc1r		Alliance of Genome Resources
oculocutaneous albinism type III	TYRP1*	Tyrp1		Alliance of Genome Resources
oculocutaneous albinism type IV	SLC45A2*	Slc45a2		Alliance of Genome Resources
oculocutaneous albinism type VI	SLC24A5*	Slc24a5		Alliance of Genome Resources
oculocutaneous albinism type VII	LRMDA*	Lrmda		Alliance of Genome Resources
oculopharyngodistal myopathy 1	LRP12*	Lrp12		Alliance of Genome Resources
oculopharyngodistal myopathy 2	GIPC1*	Gipc1		Alliance of Genome Resources
oculopharyngodistal myopathy 3	NOTCH2NLC*
oculopharyngodistal myopathy 4	RILPL1*	Rilpl1		Alliance of Genome Resources
Oguchi disease-1	SAG*	Sag		Alliance of Genome Resources
Oliver-McFarlane syndrome	PNPLA6*	Pnpla6		Alliance of Genome Resources
omodysplasia 1	GPC6*	Gpc6		Alliance of Genome Resources
omodysplasia 2	FZD2*	Fzd2		Alliance of Genome Resources
optic atrophy 1	OPA1*	Opa1		Alliance of Genome Resources
optic atrophy 1	WFS1*	Wfs1		Alliance of Genome Resources
optic atrophy 10	RTN4IP1*	Rtn4ip1		Alliance of Genome Resources
optic atrophy 11	YME1L1*	Yme1l1		Alliance of Genome Resources
optic atrophy 12	AFG3L2*	Afg3l2		Alliance of Genome Resources
optic atrophy 3	OPA3*	Opa3		Alliance of Genome Resources
optic atrophy 5	DNM1L*	Dnm1l		Alliance of Genome Resources
optic atrophy 7	TMEM126A*	Tmem126a		Alliance of Genome Resources
optic atrophy 9	ACO2*	Aco2		Alliance of Genome Resources
optic disc anomalies with retinal and/or macular dystrophy	SIX6*	Six6		Alliance of Genome Resources
orofacial cleft 6	IRF6*	Irf6		Alliance of Genome Resources
orofaciodigital syndrome II	NEK1*	Nek1		Alliance of Genome Resources
orofaciodigital syndrome IV	TCTN3*	Tctn3		Alliance of Genome Resources
orofaciodigital syndrome V	DDX59*	Ddx59		Alliance of Genome Resources
orofaciodigital syndrome XIV	C2CD3*	C2cd3		Alliance of Genome Resources
orofaciodigital syndrome XIX	SCNM1*	Scnm1		Alliance of Genome Resources
orofaciodigital syndrome XVI	TMEM107*	Tmem107		Alliance of Genome Resources
orofaciodigital syndrome XVII	INTU*	Intu		Alliance of Genome Resources
orofaciodigital syndrome XVIII	IFT57*	Ift57		Alliance of Genome Resources
orofaciodigital syndrome XX	RAB34*	Rab34		Alliance of Genome Resources
osteogenesis imperfecta type 11	FKBP10*	Fkbp10		Alliance of Genome Resources
osteogenesis imperfecta type 12	SP7*	Sp7		Alliance of Genome Resources
osteogenesis imperfecta type 13	BMP1*	Bmp1		Alliance of Genome Resources
osteogenesis imperfecta type 15	WNT1*	Wnt1		Alliance of Genome Resources
osteogenesis imperfecta type 17	SPARC*	Sparc		Alliance of Genome Resources
osteogenesis imperfecta type 18	TENT5A*	Tent5a		Alliance of Genome Resources
osteogenesis imperfecta type 2	COL1A2*	Col1a2		Alliance of Genome Resources
osteogenesis imperfecta type 20	MESD*	Mesd		Alliance of Genome Resources
osteogenesis imperfecta type 21	KDELR2*	Kdelr2		Alliance of Genome Resources
osteogenesis imperfecta type 4	COL1A2*	Col1a2		Alliance of Genome Resources
osteoglophonic dysplasia	FGFR1*	Fgfr1		Alliance of Genome Resources
osteosclerotic metaphyseal dysplasia	LRRK1*	Lrrk1		Alliance of Genome Resources
otosclerosis	AGT*	Agt		Alliance of Genome Resources
otosclerosis	VDR*	Vdr		Alliance of Genome Resources
otosclerosis	HLA-B*, HLA-A, HLA-C, HLA-E, HLA-F, HLA-G, HLA-H	H2-D1, H2-K1, H2-L, H2-M2, H2-M3, H2-M10.1, H2-M10.2, H2-M10.4, H2-Q1, H2-Q2, H2-Q4, H2-Q6, H2-Q7, H2-Q8, H2-Q10, H2-T23		Alliance of Genome Resources
otosclerosis	COL1A1*	Col1a1		Alliance of Genome Resources
otosclerosis	BMP4*	Bmp4		Alliance of Genome Resources
otosclerosis	BMP2*	Bmp2		Alliance of Genome Resources
otosclerosis 11	FOXL1*	Foxl1		Alliance of Genome Resources
otospondylomegaepiphyseal dysplasia, autosomal dominant	COL11A2*	Col11a2		Alliance of Genome Resources
ovarian dysgenesis 1	FSHR*	Fshr		Alliance of Genome Resources
ovarian dysgenesis 10	ZSWIM7*	Zswim7		Alliance of Genome Resources
ovarian dysgenesis 3	PSMC3IP*	Psmc3ip		Alliance of Genome Resources
ovarian dysgenesis 4	MCM9*	Mcm9		Alliance of Genome Resources
ovarian dysgenesis 5	SOHLH1*	Sohlh1		Alliance of Genome Resources
ovarian dysgenesis 6	NUP107*	Nup107		Alliance of Genome Resources
ovarian dysgenesis 7	MRPS22*	Mrps22		Alliance of Genome Resources
ovarian dysgenesis 8	ESR2*	Esr2		Alliance of Genome Resources
ovarian dysgenesis 9	SPIDR*	Spidr		Alliance of Genome Resources
overhydrated hereditary stomatocytosis	RHAG*	Rhag		Alliance of Genome Resources
oxoglutarate dehydrogenase deficiency	OGDH*	Ogdh		Alliance of Genome Resources
pachyonychia congenita	KRT17*	Krt17	1 model	Alliance of Genome Resources
pachyonychia congenita	KRT6A*, KRT6B*, KRT6C	Gm5414, Gm5478, Krt6a, Krt6b	1 model	Alliance of Genome Resources
Paget's disease of bone 2	TNFRSF11A*	Tnfrsf11a		Alliance of Genome Resources
Paget's disease of bone 3	SQSTM1*	Sqstm1		Alliance of Genome Resources
Paget's disease of bone 5	TNFRSF11B*	Tnfrsf11b		Alliance of Genome Resources
Paget's disease of bone 6	ZNF687*	Zfp687		Alliance of Genome Resources
palmoplantar keratoderma and woolly hair	KANK2*	Kank2		Alliance of Genome Resources
palmoplantar keratoderma-deafness syndrome	GJB2*	Gjb2		Alliance of Genome Resources
pancreatic agenesis 1	PDX1*	Pdx1		Alliance of Genome Resources
pancreatic agenesis 2	PTF1A*	Ptf1a		Alliance of Genome Resources
pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GATA6*	Gata6		Alliance of Genome Resources
pantothenate kinase-associated neurodegeneration	PANK2*	Pank2	1 "NOT" model	Alliance of Genome Resources
PAPA syndrome	PSTPIP1*	Pstpip1		Alliance of Genome Resources
Papillon-Lefevre disease	CTSC*	Ctsc		Alliance of Genome Resources
paraganglioma	SDHB*	Sdhb		Alliance of Genome Resources
paraganglioma	SDHC*	Sdhc	1 "NOT" model	Alliance of Genome Resources
paraganglioma	SDHAF2*	Sdhaf2		Alliance of Genome Resources
paraganglioma	SLC25A11*	Slc25a11		Alliance of Genome Resources
paraganglioma	DLST*	Dlst		Alliance of Genome Resources
paraganglioma	SDHD*	Sdhd	3 "NOT" models	Alliance of Genome Resources
paraganglioma	SDHA*	Sdha		Alliance of Genome Resources
paramyotonia congenita of Von Eulenburg	SCN4A*	Scn4a		Alliance of Genome Resources
parastremmatic dwarfism	TRPV4*	Trpv4		Alliance of Genome Resources
Parkinson's disease 15	FBXO7*	Fbxo7		Alliance of Genome Resources
Parkinson's disease 19A	DNAJC6*	Dnajc6		Alliance of Genome Resources
Parkinson's disease 20	SYNJ1*	Synj1		Alliance of Genome Resources
Parkinson's disease 22	CHCHD2*, CHCHD2P9	Chchd2		Alliance of Genome Resources
Parkinson's disease 23	VPS13C*	Vps13c		Alliance of Genome Resources
Parkinson's disease 25	PTPA*	Ptpa		Alliance of Genome Resources
paroxysmal extreme pain disorder	SCN9A*	Scn9a		Alliance of Genome Resources
paroxysmal nonkinesigenic dyskinesia 3	KCNMA1*	Kcnma1		Alliance of Genome Resources
peeling skin syndrome 1	CDSN*	Cdsn		Alliance of Genome Resources
peeling skin syndrome 2	TGM5*	Tgm5		Alliance of Genome Resources
peeling skin syndrome 4	CSTA*	Csta1, Csta2, Csta3, Cstdc3, Cstdc4, Cstdc5, Cstdc6, Stfa1, Stfa2, Stfa2l1, Stfa3		Alliance of Genome Resources
peeling skin syndrome 5	SERPINB8*	Serpinb8		Alliance of Genome Resources
peeling skin syndrome 6	FLG2*	Flg2		Alliance of Genome Resources
pentosuria	DCXR*	Dcxr		Alliance of Genome Resources
permanent neonatal diabetes mellitus	GCK*	Gck		Alliance of Genome Resources
permanent neonatal diabetes mellitus	ABCC8*	Abcc8		Alliance of Genome Resources
peroxisome biogenesis disorder 10A	PEX3*	Pex3		Alliance of Genome Resources
Peroxisome biogenesis disorder 10B	PEX3*	Pex3		Alliance of Genome Resources
peroxisome biogenesis disorder 11A	PEX13*	Pex13		Alliance of Genome Resources
Peroxisome biogenesis disorder 11B	PEX13*	Pex13		Alliance of Genome Resources
peroxisome biogenesis disorder 12A	PEX19*	Pex19		Alliance of Genome Resources
peroxisome biogenesis disorder 13A	PEX14*	Pex14		Alliance of Genome Resources
peroxisome biogenesis disorder 14B	PEX11B*	Pex11b		Alliance of Genome Resources
peroxisome biogenesis disorder 1A	PEX1*	Pex1		Alliance of Genome Resources
peroxisome biogenesis disorder 1B	PEX1*	Pex1		Alliance of Genome Resources
peroxisome biogenesis disorder 2A	PEX5*	Pex5		Alliance of Genome Resources
peroxisome biogenesis disorder 2B	PEX5*	Pex5		Alliance of Genome Resources
peroxisome biogenesis disorder 3A	PEX12*	Pex12		Alliance of Genome Resources
peroxisome biogenesis disorder 3B	PEX12*	Pex12		Alliance of Genome Resources
peroxisome biogenesis disorder 4A	PEX6*	Pex6		Alliance of Genome Resources
Peroxisome biogenesis disorder 4B	PEX6*	Pex6		Alliance of Genome Resources
peroxisome biogenesis disorder 5A	PEX2*	Pex2		Alliance of Genome Resources
Peroxisome biogenesis disorder 5B	PEX2*	Pex2		Alliance of Genome Resources
peroxisome biogenesis disorder 6A	PEX10*	Pex10		Alliance of Genome Resources
Peroxisome biogenesis disorder 6B	PEX10*	Pex10		Alliance of Genome Resources
peroxisome biogenesis disorder 7A	PEX26*	Pex26		Alliance of Genome Resources
Peroxisome biogenesis disorder 7B	PEX26*	Pex26		Alliance of Genome Resources
peroxisome biogenesis disorder 8A	PEX16*	Pex16		Alliance of Genome Resources
Peroxisome biogenesis disorder 8B	PEX16*	Pex16		Alliance of Genome Resources
Peroxisome biogenesis disorder 9B	PEX7*	Pex7		Alliance of Genome Resources
Perrault syndrome	LARS2*	Lars2		Alliance of Genome Resources
Perrault syndrome	HSD17B4*	Hsd17b4		Alliance of Genome Resources
Perrault syndrome	TWNK*	Twnk		Alliance of Genome Resources
Perrault syndrome 2	HARS2*	Hars2		Alliance of Genome Resources
Perrault syndrome 6	ERAL1*	Eral1		Alliance of Genome Resources
Perrault syndrome 7	DAP3*	Dap3		Alliance of Genome Resources
Perry syndrome	DCTN1*	Dctn1		Alliance of Genome Resources
photosensitive trichothiodystrophy 1	ERCC2*	Ercc2		Alliance of Genome Resources
photosensitive trichothiodystrophy 2	ERCC3*	Ercc3		Alliance of Genome Resources
photosensitive trichothiodystrophy 3	GTF2H5*	Gtf2h5		Alliance of Genome Resources
piebaldism	SNAI2*	Snai2		Alliance of Genome Resources
pigmented paravenous chorioretinal atrophy	CRB1*	Crb1		Alliance of Genome Resources
Pitt-Hopkins-like syndrome 2	NRXN1*	Nrxn1		Alliance of Genome Resources
PLACK syndrome	CAST*	Cast		Alliance of Genome Resources
plasminogen deficiency type I	PLG*	Plg		Alliance of Genome Resources
platelet-type bleeding disorder 11	GP6*	Gp6		Alliance of Genome Resources
platelet-type bleeding disorder 15	ACTN1*	Actn1		Alliance of Genome Resources
platelet-type bleeding disorder 17	GFI1B*	Gfi1b		Alliance of Genome Resources
platelet-type bleeding disorder 18	RASGRP2*	Rasgrp2		Alliance of Genome Resources
platelet-type bleeding disorder 19	PRKACG*
platelet-type bleeding disorder 20	SLFN14*	Slfn14		Alliance of Genome Resources
platelet-type bleeding disorder 3	GP1BA*	Gp1ba		Alliance of Genome Resources
poikiloderma with neutropenia	USB1*	Usb1		Alliance of Genome Resources
polycystic kidney disease 3	GANAB*	Ganab		Alliance of Genome Resources
polycystic kidney disease 5	DZIP1L*	Dzip1l		Alliance of Genome Resources
polycystic kidney disease 6	DNAJB11*	Dnajb11		Alliance of Genome Resources
polycystic kidney disease 7	ALG5*	Alg5		Alliance of Genome Resources
polycystic liver disease	GANAB*	Ganab		Alliance of Genome Resources
polycystic liver disease 1	LRP5*	Lrp5		Alliance of Genome Resources
polycystic liver disease 1	PRKCSH*	Prkcsh		Alliance of Genome Resources
polycystic liver disease 2	SEC63*	Sec63		Alliance of Genome Resources
polycystic liver disease 3	ALG8*	Alg8		Alliance of Genome Resources
polycystic liver disease 4	LRP5*	Lrp5		Alliance of Genome Resources
polyhydramnios, megalencephaly, and symptomatic epilepsy	STRADA*	Strada		Alliance of Genome Resources
pontocerebellar hypoplasia type 11	TBC1D23*	Tbc1d23		Alliance of Genome Resources
pontocerebellar hypoplasia type 12	COASY*	Coasy		Alliance of Genome Resources
pontocerebellar hypoplasia type 13	VPS51*	Vps51		Alliance of Genome Resources
pontocerebellar hypoplasia type 15	CDC40*	Cdc40		Alliance of Genome Resources
pontocerebellar hypoplasia type 16	MINPP1*	Minpp1		Alliance of Genome Resources
pontocerebellar hypoplasia type 1A	VRK1*	Vrk1		Alliance of Genome Resources
pontocerebellar hypoplasia type 1B	EXOSC3*	Exosc3		Alliance of Genome Resources
pontocerebellar hypoplasia type 1C	EXOSC8*	Exosc8		Alliance of Genome Resources
pontocerebellar hypoplasia type 1D	EXOSC9*	Exosc9		Alliance of Genome Resources
pontocerebellar hypoplasia type 1E	SLC25A46*	Slc25a46		Alliance of Genome Resources
pontocerebellar hypoplasia type 1F	EXOSC1*	Exosc1		Alliance of Genome Resources
pontocerebellar hypoplasia type 2A	TSEN54*	Tsen54		Alliance of Genome Resources
pontocerebellar hypoplasia type 2B	TSEN2*	Tsen2		Alliance of Genome Resources
pontocerebellar hypoplasia type 2C	TSEN34*	Tsen34		Alliance of Genome Resources
pontocerebellar hypoplasia type 2D	SEPSECS*	Sepsecs		Alliance of Genome Resources
pontocerebellar hypoplasia type 2E	VPS53*	Vps53		Alliance of Genome Resources
pontocerebellar hypoplasia type 2F	TSEN15*	Tsen15		Alliance of Genome Resources
poor metabolism of thiopurines 1	TPMT*	Tpmt		Alliance of Genome Resources
poor metabolism of thiopurines 2	NUDT15*	Nudt15		Alliance of Genome Resources
postaxial acrofacial dysostosis	DHODH*	Dhodh		Alliance of Genome Resources
posterior polymorphous corneal dystrophy 1	OVOL2*	Ovol2		Alliance of Genome Resources
posterior polymorphous corneal dystrophy 1	VSX1*	Vsx1		Alliance of Genome Resources
posterior polymorphous corneal dystrophy 2	COL8A2*	Col8a2		Alliance of Genome Resources
posterior polymorphous corneal dystrophy 4	GRHL2*	Grhl2		Alliance of Genome Resources
preaxial polydactyly I	GLI1*	Gli1		Alliance of Genome Resources
preaxial polydactyly II	SHH*	Shh		Alliance of Genome Resources
preaxial polydactyly type IV	GLI3*	Gli3		Alliance of Genome Resources
primary autosomal dominant microcephaly 18	WDFY3*	Wdfy3		Alliance of Genome Resources
primary autosomal recessive microcephaly	MCPH1*	Mcph1		Alliance of Genome Resources
primary autosomal recessive microcephaly	ASPM*	Aspm		Alliance of Genome Resources
primary autosomal recessive microcephaly	CPAP*	Cpap		Alliance of Genome Resources
primary autosomal recessive microcephaly	KNL1*	Knl1		Alliance of Genome Resources
primary autosomal recessive microcephaly	WDR62*	Wdr62		Alliance of Genome Resources
primary autosomal recessive microcephaly 1	MCPH1*	Mcph1		Alliance of Genome Resources
primary autosomal recessive microcephaly 10	ZNF335*	Zfp335		Alliance of Genome Resources
primary autosomal recessive microcephaly 11	PHC1*	Phc1		Alliance of Genome Resources
primary autosomal recessive microcephaly 12	CDK6*	Cdk6		Alliance of Genome Resources
primary autosomal recessive microcephaly 13	CENPE*	Cenpe		Alliance of Genome Resources
primary autosomal recessive microcephaly 14	SASS6*	Sass6		Alliance of Genome Resources
primary autosomal recessive microcephaly 15	MFSD2A*	Mfsd2a		Alliance of Genome Resources
primary autosomal recessive microcephaly 16	ANKLE2*	Ankle2		Alliance of Genome Resources
primary autosomal recessive microcephaly 17	CIT*	Cit		Alliance of Genome Resources
primary autosomal recessive microcephaly 19	COPB2*	Copb2		Alliance of Genome Resources
primary autosomal recessive microcephaly 20	KIF14*	Kif14		Alliance of Genome Resources
primary autosomal recessive microcephaly 21	NCAPD2*	Ncapd2		Alliance of Genome Resources
primary autosomal recessive microcephaly 22	NCAPD3*	Ncapd3		Alliance of Genome Resources
primary autosomal recessive microcephaly 23	NCAPH*	Ncaph		Alliance of Genome Resources
primary autosomal recessive microcephaly 24	NUP37*	Nup37		Alliance of Genome Resources
primary autosomal recessive microcephaly 25	TRAPPC14*	Trappc14		Alliance of Genome Resources
primary autosomal recessive microcephaly 28	RRP7A*, RRP7BP	Rrp7a		Alliance of Genome Resources
primary autosomal recessive microcephaly 29	PDCD6IP*	Pdcd6ip		Alliance of Genome Resources
primary autosomal recessive microcephaly 3	CDK5RAP2*	Cdk5rap2		Alliance of Genome Resources
primary autosomal recessive microcephaly 30	BUB1*	Bub1		Alliance of Genome Resources
primary autosomal recessive microcephaly 4	KNL1*	Knl1		Alliance of Genome Resources
primary autosomal recessive microcephaly 5	ASPM*	Aspm		Alliance of Genome Resources
primary autosomal recessive microcephaly 6	CPAP*	Cpap		Alliance of Genome Resources
primary autosomal recessive microcephaly 7	STIL*	Stil		Alliance of Genome Resources
primary autosomal recessive microcephaly 8	CEP135*	Cep135		Alliance of Genome Resources
primary autosomal recessive microcephaly 9	CEP152*	Cep152		Alliance of Genome Resources
primary ciliary dyskinesia 38	CFAP300*	Cfap300		Alliance of Genome Resources
primary ciliary dyskinesia 39	LRRC56*	Lrrc56		Alliance of Genome Resources
primary ciliary dyskinesia 40	DNAH9*	Dnah9		Alliance of Genome Resources
primary ciliary dyskinesia 41	GAS2L2*	Gas2l2		Alliance of Genome Resources
primary ciliary dyskinesia 42	MCIDAS*	Mcidas		Alliance of Genome Resources
primary ciliary dyskinesia 43	FOXJ1*	Foxj1		Alliance of Genome Resources
primary ciliary dyskinesia 44	NEK10*	Nek10		Alliance of Genome Resources
primary ciliary dyskinesia 45	TTC12*	Ttc12		Alliance of Genome Resources
primary coenzyme Q10 deficiency 9	COQ5*	Coq5		Alliance of Genome Resources
primary failure of tooth eruption	PTH1R*	Pth1r		Alliance of Genome Resources
primary ovarian insufficiency 10	MCM8*	Mcm8		Alliance of Genome Resources
primary ovarian insufficiency 11	ERCC6*	Ercc6		Alliance of Genome Resources
primary ovarian insufficiency 14	GDF9*	Gdf9		Alliance of Genome Resources
primary ovarian insufficiency 15	FANCM*	Fancm		Alliance of Genome Resources
primary ovarian insufficiency 18	C14orf39*	4930447C04Rik		Alliance of Genome Resources
primary ovarian insufficiency 3	FOXL2*	Foxl2		Alliance of Genome Resources
primary ovarian insufficiency 5	NOBOX*	Nobox		Alliance of Genome Resources
primary ovarian insufficiency 6	FIGLA*	Figla		Alliance of Genome Resources
primary ovarian insufficiency 7	NR5A1*	Nr5a1		Alliance of Genome Resources
primary ovarian insufficiency 8	STAG3*	Stag3		Alliance of Genome Resources
primary ovarian insufficiency 9	HFM1*	Hfm1		Alliance of Genome Resources
primary pigmented nodular adrenocortical disease 1	PRKAR1A*	Prkar1a		Alliance of Genome Resources
primary pigmented nodular adrenocortical disease 2	PDE11A*	Pde11a		Alliance of Genome Resources
primary pigmented nodular adrenocortical disease 4	PRKACA*	Prkaca		Alliance of Genome Resources
progeria	GH1*, CSH1, CSH2, CSHL1, GH2	Gh		Alliance of Genome Resources
progressive familial heart block type IB	TRPM4*	Trpm4		Alliance of Genome Resources
progressive familial intrahepatic cholestasis 1	ATP8B1*	Atp8b1		Alliance of Genome Resources
progressive familial intrahepatic cholestasis 2	ABCB11*	Abcb11		Alliance of Genome Resources
progressive familial intrahepatic cholestasis 3	ABCB4*	Abcb4		Alliance of Genome Resources
progressive familial intrahepatic cholestasis 4	TJP2*	Tjp2	1 model	Alliance of Genome Resources
progressive familial intrahepatic cholestasis 5	NR1H4*	Nr1h4		Alliance of Genome Resources
progressive leukoencephalopathy with ovarian failure	AARS2*	Aars2		Alliance of Genome Resources
progressive myoclonus epilepsy 10	PRDM8*	Prdm8		Alliance of Genome Resources
progressive myoclonus epilepsy 1A	CSTB*	Cstb		Alliance of Genome Resources
progressive myoclonus epilepsy 3	KCTD7*	Kctd7		Alliance of Genome Resources
progressive myoclonus epilepsy 4	SCARB2*	Scarb2		Alliance of Genome Resources
progressive myoclonus epilepsy 6	GOSR2*	Gosr2		Alliance of Genome Resources
progressive myoclonus epilepsy 7	KCNC1*	Kcnc1		Alliance of Genome Resources
progressive myoclonus epilepsy 8	CERS1*	Cers1		Alliance of Genome Resources
progressive myoclonus epilepsy 9	LMNB2*	Lmnb2		Alliance of Genome Resources
progressive osseous heteroplasia	GNAS*	Gnas		Alliance of Genome Resources
prolidase deficiency	PEPD*	Pepd		Alliance of Genome Resources
proprotein convertase 1/3 deficiency	PCSK1*	Pcsk1		Alliance of Genome Resources
proteasome-associated autoinflammatory syndrome 1	PSMB8*	Psmb8		Alliance of Genome Resources
proteasome-associated autoinflammatory syndrome 3	PSMB4*	Psmb4		Alliance of Genome Resources
protein C deficiency	PROC*	Proc		Alliance of Genome Resources
proteosome-associated autoinflammatory syndrome 2	POMP*	Pomp		Alliance of Genome Resources
proteosome-associated autoinflammatory syndrome 4	PSMG2*	Psmg2		Alliance of Genome Resources
proteosome-associated autoinflammatory syndrome 5	PSMB10*	Psmb10		Alliance of Genome Resources
prothrombin deficiency	F2*	F2		Alliance of Genome Resources
proximal symphalangism	NOG*	Nog		Alliance of Genome Resources
proximal symphalangism 1	NOG*	Nog		Alliance of Genome Resources
proximal symphalangism 2	GDF5*	Gdf5		Alliance of Genome Resources
prune belly syndrome	CHRM3*	Chrm3		Alliance of Genome Resources
pseudo-TORCH syndrome 1	OCLN*	Ocln		Alliance of Genome Resources
pseudoxanthoma elasticum	XYLT2*	Xylt2		Alliance of Genome Resources
pseudoxanthoma elasticum	GPX1*	Gpx1		Alliance of Genome Resources
pseudoxanthoma elasticum	MMP2*	Mmp2		Alliance of Genome Resources
pseudoxanthoma elasticum	SOD2*	Sod2		Alliance of Genome Resources
pseudoxanthoma elasticum	ELN*	Eln		Alliance of Genome Resources
pseudoxanthoma elasticum	VEGFA*	Vegfa		Alliance of Genome Resources
pseudoxanthoma elasticum	XYLT1*	Xylt1		Alliance of Genome Resources
pseudoxanthoma elasticum	CAT*	Cat		Alliance of Genome Resources
pulmonary venoocclusive disease 1	BMPR2*	Bmpr2		Alliance of Genome Resources
pulmonary venoocclusive disease 2	EIF2AK4*	Eif2ak4		Alliance of Genome Resources
pycnodysostosis	CTSK*	Ctsk		Alliance of Genome Resources
Rafiq syndrome	MAN1B1*	Man1b1		Alliance of Genome Resources
rapadilino syndrome	RECQL4*	Recql4		Alliance of Genome Resources
Rapp-Hodgkin syndrome	TP63*	Trp63		Alliance of Genome Resources
renal cysts and diabetes syndrome	HNF1B*	Hnf1b		Alliance of Genome Resources
renal hypomagnesemia 7, with or without dilated cardiomyopathy	RRAGD*	Rragd		Alliance of Genome Resources
RENI syndrome	SGPL1*	Sgpl1		Alliance of Genome Resources
restrictive dermopathy 1	ZMPSTE24*	Zmpste24		Alliance of Genome Resources
reticular dysgenesis	AK2*	Ak2		Alliance of Genome Resources
retinal arterial tortuosity	COL4A1*	Col4a1		Alliance of Genome Resources
retinal cone dystrophy 3B	KCNV2*	Kcnv2		Alliance of Genome Resources
retinal dystrophy with leukodystrophy	ACBD5*	Acbd5		Alliance of Genome Resources
retinal macular dystrophy 2	PROM1*	Prom1		Alliance of Genome Resources
retinal macular dystrophy 4	CLEC3B*	Clec3b		Alliance of Genome Resources
retinal vasculopathy with cerebral leukodystrophy	TREX1*	Trex1		Alliance of Genome Resources
retinitis pigmentosa 10	IMPDH1*	Impdh1		Alliance of Genome Resources
retinitis pigmentosa 25	EYS*
retinitis pigmentosa 27	NRL*	Nrl		Alliance of Genome Resources
retinitis pigmentosa 33	SNRNP200*	Snrnp200		Alliance of Genome Resources
retinitis pigmentosa 35	SEMA4A*	Sema4a		Alliance of Genome Resources
retinitis pigmentosa 37	NR2E3*	Nr2e3		Alliance of Genome Resources
retinitis pigmentosa 38	MERTK*	Mertk		Alliance of Genome Resources
retinitis pigmentosa 42	KLHL7*	Klhl7		Alliance of Genome Resources
retinitis pigmentosa 45	CNGB1*	Cngb1		Alliance of Genome Resources
retinitis pigmentosa 50	BEST1*	Best1		Alliance of Genome Resources
retinitis pigmentosa 57	PDE6G*	Pde6g		Alliance of Genome Resources
retinitis pigmentosa 60	PRPF6*	Prpf6		Alliance of Genome Resources
retinitis pigmentosa 62	MAK*	Mak		Alliance of Genome Resources
retinitis pigmentosa 68	SLC7A14*	Slc7a14		Alliance of Genome Resources
retinitis pigmentosa 69	KIZ*	Kiz		Alliance of Genome Resources
retinitis pigmentosa 7	ROM1*	Rom1		Alliance of Genome Resources
retinitis pigmentosa 70	PRPF4*	Prpf4		Alliance of Genome Resources
retinitis pigmentosa 71	IFT172*	Ift172		Alliance of Genome Resources
retinitis pigmentosa 72	ZNF408*	Zfp408		Alliance of Genome Resources
retinitis pigmentosa 73	HGSNAT*	Hgsnat		Alliance of Genome Resources
retinitis pigmentosa 74	BBS2*	Bbs2		Alliance of Genome Resources
retinitis pigmentosa 75	AGBL5*	Agbl5		Alliance of Genome Resources
retinitis pigmentosa 76	POMGNT1*	Pomgnt1		Alliance of Genome Resources
retinitis pigmentosa 78	ARHGEF18*	Arhgef18		Alliance of Genome Resources
retinitis pigmentosa 79	HK1*	Hk1		Alliance of Genome Resources
retinitis pigmentosa 80	IFT140*	Ift140		Alliance of Genome Resources
retinitis pigmentosa 81	IFT43*	Ift43		Alliance of Genome Resources
retinitis pigmentosa 83	ARL3*	Arl3		Alliance of Genome Resources
retinitis pigmentosa 84	DHX38*	Dhx38		Alliance of Genome Resources
retinitis pigmentosa 85	AHR*	Ahr		Alliance of Genome Resources
retinitis pigmentosa 86	KIAA1549*	D630045J12Rik		Alliance of Genome Resources
retinitis pigmentosa 87	RPE65*	Rpe65		Alliance of Genome Resources
retinitis pigmentosa 88	RP1L1*	Rp1l1		Alliance of Genome Resources
retinitis pigmentosa 89	KIF3B*	Kif3b		Alliance of Genome Resources
retinitis pigmentosa 9	RP9*	Rp9		Alliance of Genome Resources
retinitis pigmentosa 90	IDH3A*	Idh3a		Alliance of Genome Resources
retinitis pigmentosa 91	ABCA4*	Abca4		Alliance of Genome Resources
retinitis pigmentosa 91	IMPG1*	Impg1		Alliance of Genome Resources
retinitis pigmentosa 92	HKDC1*	Hkdc1		Alliance of Genome Resources
retinitis pigmentosa 93	CC2D2A*	Cc2d2a		Alliance of Genome Resources
retinitis pigmentosa 95	RAX2*
retinitis pigmentosa 96	SAG*	Sag		Alliance of Genome Resources
retinitis pigmentosa 97	VWA8*	Vwa8		Alliance of Genome Resources
retinitis pigmentosa 98	TMEM216*	Tmem216		Alliance of Genome Resources
Revesz syndrome	TINF2*	Tinf2		Alliance of Genome Resources
rhabdoid tumor predisposition syndrome 1	SMARCB1*	Smarcb1		Alliance of Genome Resources
rhabdoid tumor predisposition syndrome 2	SMARCA4*	Smarca4		Alliance of Genome Resources
rhizomelic chondrodysplasia punctata	AGPS*	Agps		Alliance of Genome Resources
rhizomelic chondrodysplasia punctata type 5	PEX5*	Pex5		Alliance of Genome Resources
rhizomelic chondrodysplasia punctate type 4	FAR1*	Far1		Alliance of Genome Resources
right atrial isomerism	GDF1*	Gdf1		Alliance of Genome Resources
ring dermoid of cornea	PITX2*	Pitx2		Alliance of Genome Resources
Ritscher-Schinzel syndrome 1	WASHC5*	Washc5		Alliance of Genome Resources
RNASET2-deficient cystic leukoencephalopathy	RNASET2*	Rnaset2a, Rnaset2b		Alliance of Genome Resources
Roberts syndrome	ESCO2*	Esco2		Alliance of Genome Resources
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	TBC1D24*	Tbc1d24		Alliance of Genome Resources
Rubinstein-Taybi syndrome	EP300*	Ep300		Alliance of Genome Resources
Ruijs-Aalfs syndrome	SPRTN*	Sprtn		Alliance of Genome Resources
SADDAN	FGFR3*	Fgfr3		Alliance of Genome Resources
Saethre-Chotzen syndrome	FGFR2*	Fgfr2		Alliance of Genome Resources
salt and pepper syndrome	ST3GAL5*	St3gal5		Alliance of Genome Resources
Sandestig-Stefanova syndrome	NUP188*	Nup188		Alliance of Genome Resources
sarcosinemia	SARDH*	Sardh		Alliance of Genome Resources
Saul-Wilson syndrome	COG4*	Cog4		Alliance of Genome Resources
scapuloperoneal spinal muscular atrophy	TRPV4*	Trpv4		Alliance of Genome Resources
Schindler disease type 1	NAGA*	Naga		Alliance of Genome Resources
Schinzel Giedion syndrome	SETBP1*	Setbp1		Alliance of Genome Resources
Schinzel type phocomelia	WNT7A*	Wnt7a		Alliance of Genome Resources
schizophrenia 15	SHANK3*	Shank3		Alliance of Genome Resources
schizophrenia 4	PRODH*	Prodh		Alliance of Genome Resources
schizophrenia 6	NRG1*	Nrg1		Alliance of Genome Resources
Schopf-Schulz-Passarge syndrome	WNT10A*	Wnt10a		Alliance of Genome Resources
Schuurs-Hoeijmakers Syndrome	PACS1*	Pacs1		Alliance of Genome Resources
schwannomatosis	SMARCB1*	Smarcb1		Alliance of Genome Resources
schwannomatosis	LZTR1*	Lztr1		Alliance of Genome Resources
schwannomatosis 1	SMARCB1*	Smarcb1		Alliance of Genome Resources
schwannomatosis 2	LZTR1*	Lztr1		Alliance of Genome Resources
Seckel syndrome	CDK5RAP2*	Cdk5rap2		Alliance of Genome Resources
Seckel syndrome 1	ATR*	Atr		Alliance of Genome Resources
Seckel syndrome 10	NSMCE2*	Nsmce2		Alliance of Genome Resources
Seckel syndrome 2	RBBP8*	Rbbp8		Alliance of Genome Resources
Seckel syndrome 4	CPAP*	Cpap		Alliance of Genome Resources
Seckel syndrome 5	CEP152*	Cep152		Alliance of Genome Resources
Seckel syndrome 6	CEP63*	Cep63		Alliance of Genome Resources
Seckel syndrome 7	NIN*	Nin		Alliance of Genome Resources
Seckel syndrome 8	DNA2*	Dna2		Alliance of Genome Resources
Seckel syndrome 9	TRAIP*	Traip		Alliance of Genome Resources
selective pituitary thyroid hormone resistance	THRB*	Thrb		Alliance of Genome Resources
Sengers syndrome	AGK*	Agk		Alliance of Genome Resources
Senior-Loken syndrome	IQCB1*	Iqcb1		Alliance of Genome Resources
Senior-Loken syndrome	NPHP1*	Nphp1		Alliance of Genome Resources
Senior-Loken syndrome	NPHP4*	Nphp4		Alliance of Genome Resources
Senior-Loken syndrome	SDCCAG8*	Sdccag8		Alliance of Genome Resources
Senior-Loken syndrome	TRAF3IP1*	Traf3ip1		Alliance of Genome Resources
Senior-Loken syndrome	WDR19*	Wdr19		Alliance of Genome Resources
Senior-Loken syndrome	CEP290*	Cep290		Alliance of Genome Resources
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	POLG*	Polg		Alliance of Genome Resources
sepiapterin reductase deficiency	SPR*	Spr		Alliance of Genome Resources
severe combined immunodeficiency 104	IL7R*	Il7r		Alliance of Genome Resources
severe combined immunodeficiency 105	PTPRC*	Ptprc		Alliance of Genome Resources
severe combined immunodeficiency 124	NHEJ1*	Nhej1		Alliance of Genome Resources
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive	RAG1*	Rag1		Alliance of Genome Resources
severe congenital neutropenia 1	ELANE*	Elane		Alliance of Genome Resources
severe congenital neutropenia 2	GFI1*	Gfi1		Alliance of Genome Resources
severe congenital neutropenia 3	HAX1*	Hax1		Alliance of Genome Resources
severe congenital neutropenia 4	G6PC3*	G6pc3		Alliance of Genome Resources
severe congenital neutropenia 5	VPS45*	Vps45		Alliance of Genome Resources
severe congenital neutropenia 6	JAGN1*	Jagn1		Alliance of Genome Resources
severe congenital neutropenia 7	CSF3R*	Csf3r		Alliance of Genome Resources
severe congenital neutropenia 8	SRP54*	Srp54a, Srp54b, Srp54c		Alliance of Genome Resources
short-rib thoracic dysplasia 10 with or without polydactyly	IFT172*	Ift172		Alliance of Genome Resources
short-rib thoracic dysplasia 11 with or without polydactyly	DYNC2I2*	Dync2i2		Alliance of Genome Resources
short-rib thoracic dysplasia 13 with or without polydactyly	CEP120*	Cep120		Alliance of Genome Resources
short-rib thoracic dysplasia 14 with polydactyly	KIAA0586*	2700049A03Rik		Alliance of Genome Resources
short-rib thoracic dysplasia 18 with polydactyly	IFT43*	Ift43		Alliance of Genome Resources
short-rib thoracic dysplasia 19 with or without polydactyly	IFT81*	Ift81		Alliance of Genome Resources
short-rib thoracic dysplasia 6 with or without polydactyly	NEK1*	Nek1		Alliance of Genome Resources
short-rib thoracic dysplasia 8 with or without polydactyly	DYNC2I1*	Dync2i1		Alliance of Genome Resources
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	BMP2*	Bmp2		Alliance of Genome Resources
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	SCUBE3*	Scube3		Alliance of Genome Resources
short stature, hearing loss, retinitis pigmentosa, and distinctive facies	EXOSC2*	Exosc2		Alliance of Genome Resources
sickle cell anemia	ALAD*	Alad		Alliance of Genome Resources
sickle cell anemia	GPX1*	Gpx1		Alliance of Genome Resources
sickle cell anemia	GCH1*	Gch1		Alliance of Genome Resources
sickle cell anemia	CYP2C19*, CYP2C8, CYP2C9, CYP2C18	Cyp2c29, Cyp2c37, Cyp2c38, Cyp2c39, Cyp2c40, Cyp2c50, Cyp2c54, Cyp2c55, Cyp2c65, Cyp2c66, Cyp2c67, Cyp2c68, Cyp2c69		Alliance of Genome Resources
sickle cell anemia	CFB*	Cfb		Alliance of Genome Resources
sickle cell anemia	HMBS*	Hmbs		Alliance of Genome Resources
sickle cell anemia	C3*	C3		Alliance of Genome Resources
sickle cell anemia	BCL11A*	Bcl11a		Alliance of Genome Resources
sickle cell anemia	MTHFR*	Mthfr		Alliance of Genome Resources
sickle cell anemia	NOS3*	Nos3		Alliance of Genome Resources
sickle cell anemia	HBE1*	Hbb-y		Alliance of Genome Resources
sickle cell anemia	HBG2*, HBG1	Hbb-bh0, Hbb-bh1		Alliance of Genome Resources
sickle cell anemia	APOB*	Apob		Alliance of Genome Resources
sickle cell anemia	HBB*, HBD	Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt	7 models	Alliance of Genome Resources
sickle cell anemia	HLA-DQB1*, HLA-DQB2	H2-Ab1		Alliance of Genome Resources
sickle cell anemia	GSTT1*	Gstt1		Alliance of Genome Resources
sideroblastic anemia 5	HSCB*	Hscb		Alliance of Genome Resources
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	TRNT1*	Trnt1		Alliance of Genome Resources
Sifrim-Hitz-Weiss syndrome	CHD4*	Chd4		Alliance of Genome Resources
sitosterolemia	ABCG5*	Abcg5		Alliance of Genome Resources
sitosterolemia 1	ABCG8*	Abcg8		Alliance of Genome Resources
sitosterolemia 2	ABCG5*	Abcg5		Alliance of Genome Resources
Sjogren-Larsson syndrome	ALDH3A2*	Aldh3a2	1 model	Alliance of Genome Resources
Smith-McCort dysplasia 1	DYM*	Dym		Alliance of Genome Resources
snowflake vitreoretinal degeneration	KCNJ13*	Kcnj13		Alliance of Genome Resources
solitary median maxillary central incisor	SHH*	Shh		Alliance of Genome Resources
Sotos syndrome	NSD1*	Nsd1	1 model	Alliance of Genome Resources
Sotos syndrome 1	NSD1*	Nsd1		Alliance of Genome Resources
Sotos syndrome 3	APC2*	Apc2		Alliance of Genome Resources
spastic ataxia 1	VAMP1*	Vamp1		Alliance of Genome Resources
spastic ataxia 2	KIF1C*	Kif1c		Alliance of Genome Resources
spastic ataxia 3	MARS2*	Mars2		Alliance of Genome Resources
spastic ataxia 4	MTPAP*	Mtpap		Alliance of Genome Resources
spastic ataxia 5	AFG3L2*	Afg3l2		Alliance of Genome Resources
spastic ataxia 8	NKX6-2*	Nkx6-2		Alliance of Genome Resources
spastic quadriplegic cerebral palsy 3	ADD3*	Add3		Alliance of Genome Resources
speech-language disorder-1	FOXP2*	Foxp2		Alliance of Genome Resources
spermatogenic failure 10	SEPTIN12*	Septin12		Alliance of Genome Resources
spermatogenic failure 11	KLHL10*	Klhl10		Alliance of Genome Resources
spermatogenic failure 12	NANOS1*	Nanos1		Alliance of Genome Resources
spermatogenic failure 13	TAF4B*	Taf4b		Alliance of Genome Resources
spermatogenic failure 14	ZMYND15*	Zmynd15		Alliance of Genome Resources
spermatogenic failure 15	SYCE1*	Syce1		Alliance of Genome Resources
spermatogenic failure 16	SUN5*	Sun5		Alliance of Genome Resources
spermatogenic failure 17	PLCZ1*	Plcz1		Alliance of Genome Resources
spermatogenic failure 18	DNAH1*	Dnah1		Alliance of Genome Resources
spermatogenic failure 2	MSH4*	Msh4		Alliance of Genome Resources
spermatogenic failure 21	BRDT*	Brdt		Alliance of Genome Resources
spermatogenic failure 22	MEIOB*	Meiob		Alliance of Genome Resources
spermatogenic failure 23	TEX14*	Tex14		Alliance of Genome Resources
spermatogenic failure 25	TEX15*	Tex15		Alliance of Genome Resources
spermatogenic failure 26	TSGA10*	Tsga10		Alliance of Genome Resources
spermatogenic failure 27	AK7*	Ak7		Alliance of Genome Resources
spermatogenic failure 28	FANCM*	Fancm		Alliance of Genome Resources
spermatogenic failure 29	SPINK2*	Spink2		Alliance of Genome Resources
spermatogenic failure 3	SLC26A8*	Slc26a8		Alliance of Genome Resources
spermatogenic failure 3	SRSF6*	Srsf6		Alliance of Genome Resources
spermatogenic failure 30	TDRD9*	Tdrd9		Alliance of Genome Resources
spermatogenic failure 32	SOHLH1*	Sohlh1		Alliance of Genome Resources
spermatogenic failure 33	CFAP251*	Cfap251		Alliance of Genome Resources
spermatogenic failure 34	FSIP2*	Fsip2		Alliance of Genome Resources
spermatogenic failure 35	QRICH2*	Qrich2		Alliance of Genome Resources
spermatogenic failure 36	PPP2R3C*	Ppp2r3c		Alliance of Genome Resources
spermatogenic failure 37	TTC21A*	Ttc21a		Alliance of Genome Resources
spermatogenic failure 38	ARMC2*	Armc2		Alliance of Genome Resources
spermatogenic failure 4	SYCP3*	1700013H16Rik, 1700040F15Rik, 3830403N18Rik, Gm773, Gm1993, Gm2012, Gm2030, Gm4297, Gm4836, Gm5168, Gm5169, Gm5934, Gm5935, Gm6121, Gm10058, Gm10096, Gm10147, Gm10230, Gm10486, Gm10487, Gm10488, Gm14525, Gm14632, Gm14819, Gm20736, Gm20792, Gm20817, Gm20820, Gm20824, Gm20838, Gm20843, Gm20888, Gm20890, Gm20911, Gm20937, Gm21094, Gm21095, Gm21117, Gm21173, Gm21209, Gm21256, Gm21258, Gm21294, Gm21488, Gm21497, Gm21518, Gm21739, Gm21760, Gm21858, Gm21861, Gm21865, Gm21996, Gm28102, Gm28510, Gm28553, Gm28576, Gm28827, Gm28870, Gm28891, Gm28897, Gm28919, Gm28961, Gm28998, Gm29110, Gm29276, Gm29554, Gm29564, Gm29582, Gm29866, Gm30737, Gm31571, Gm35134, Slx, Sly, Sycp3, Xlr		Alliance of Genome Resources
spermatogenic failure 41	CFAP70*	Cfap70		Alliance of Genome Resources
spermatogenic failure 42	TTC29*	Ttc29		Alliance of Genome Resources
spermatogenic failure 43	SPEF2*	Spef2		Alliance of Genome Resources
spermatogenic failure 44	CEP112*	Cep112		Alliance of Genome Resources
spermatogenic failure 45	DNAH2*	Dnah2		Alliance of Genome Resources
spermatogenic failure 48	M1AP*	M1ap		Alliance of Genome Resources
spermatogenic failure 49	CFAP58*	Cfap58		Alliance of Genome Resources
spermatogenic failure 5	AURKC*	Aurkc		Alliance of Genome Resources
spermatogenic failure 50	XRCC2*	Xrcc2		Alliance of Genome Resources
spermatogenic failure 51	CFAP91*	Cfap91		Alliance of Genome Resources
spermatogenic failure 52	C14orf39*	4930447C04Rik		Alliance of Genome Resources
spermatogenic failure 53	ACTL9*	Actl9		Alliance of Genome Resources
spermatogenic failure 54	CATIP*	Catip		Alliance of Genome Resources
spermatogenic failure 55	SPAG17*	Spag17		Alliance of Genome Resources
spermatogenic failure 56	DNAH10*	Dnah10		Alliance of Genome Resources
spermatogenic failure 57	PNLDC1*	Pnldc1		Alliance of Genome Resources
spermatogenic failure 58	IFT74*	Ift74		Alliance of Genome Resources
spermatogenic failure 59	TERB2*	Terb2		Alliance of Genome Resources
spermatogenic failure 6	SPATA16*	Spata16		Alliance of Genome Resources
spermatogenic failure 60	TERB1*	Terb1		Alliance of Genome Resources
spermatogenic failure 61	STAG3*	Stag3		Alliance of Genome Resources
spermatogenic failure 62	RNF212*	Rnf212		Alliance of Genome Resources
spermatogenic failure 63	RPL10L*	Rpl10l		Alliance of Genome Resources
spermatogenic failure 64	FBXO43*	Fbxo43		Alliance of Genome Resources
spermatogenic failure 65	DNHD1*	Dnhd1		Alliance of Genome Resources
spermatogenic failure 66	ZPBP*	Zpbp		Alliance of Genome Resources
spermatogenic failure 67	CCDC62*	Ccdc62		Alliance of Genome Resources
spermatogenic failure 68	CATSPERT*	C2cd6		Alliance of Genome Resources
spermatogenic failure 69	GGN*	Ggn		Alliance of Genome Resources
spermatogenic failure 7	CATSPER1*	Catsper1		Alliance of Genome Resources
spermatogenic failure 70	PDHA2*	Pdha2		Alliance of Genome Resources
spermatogenic failure 71	ZSWIM7*	Zswim7		Alliance of Genome Resources
spermatogenic failure 72	WDR19*	Wdr19		Alliance of Genome Resources
spermatogenic failure 73	MOV10L1*	Mov10l1		Alliance of Genome Resources
spermatogenic failure 74	MSH5*	Msh5		Alliance of Genome Resources
spermatogenic failure 75	SHOC1*	Shoc1		Alliance of Genome Resources
spermatogenic failure 76	CCDC34*	Ccdc34		Alliance of Genome Resources
spermatogenic failure 77	FKBP6*	Fkbp6		Alliance of Genome Resources
spermatogenic failure 78	IQCN*	Iqcn		Alliance of Genome Resources
spermatogenic failure 79	KCNU1*	Kcnu1		Alliance of Genome Resources
spermatogenic failure 8	NR5A1*	Nr5a1		Alliance of Genome Resources
spermatogenic failure 80	DRC1*	Drc1		Alliance of Genome Resources
spermatogenic failure 81	TEKT3*	Tekt3		Alliance of Genome Resources
spermatogenic failure 82	AKAP3*	Akap3		Alliance of Genome Resources
spermatogenic failure 83	DNALI1*	Dnali1		Alliance of Genome Resources
spermatogenic failure 84	CFAP61*	Cfap61		Alliance of Genome Resources
spermatogenic failure 85	SPACA1*	Spaca1		Alliance of Genome Resources
spermatogenic failure 86	ACTL7A*	Actl7a		Alliance of Genome Resources
spermatogenic failure 87	ACR*	Acr		Alliance of Genome Resources
spermatogenic failure 88	KASH5*	Kash5		Alliance of Genome Resources
spermatogenic failure 89	AK9*	Ak9		Alliance of Genome Resources
spermatogenic failure 9	DPY19L2*, DPY19L2P1, DPY19L2P2	Dpy19l2		Alliance of Genome Resources
spermatogenic failure 90	ARMC12*	Armc12		Alliance of Genome Resources
spermatogenic failure 91	CCIN*	Ccin		Alliance of Genome Resources
spermatogenic failure 92	LRRC23*	Lrrc23		Alliance of Genome Resources
spermatogenic failure 93	STK33*	Stk33		Alliance of Genome Resources
spermatogenic failure 94	CCDC146*	Ccdc146		Alliance of Genome Resources
spermatogenic failure 95	CFAP57*	Cfap57		Alliance of Genome Resources
spinal muscular atrophy, Jokela type	CHCHD10*	Chchd10		Alliance of Genome Resources
spinal muscular atrophy with lower extremity predominant 1	DYNC1H1*	Dync1h1		Alliance of Genome Resources
spinal muscular atrophy with lower extremity predominant 2A	BICD2*	Bicd2		Alliance of Genome Resources
spinal muscular atrophy with lower extremity predominant 2B	BICD2*	Bicd2		Alliance of Genome Resources
spinal muscular atrophy with lower extremity predominant 2B	ND6*	mt-Nd6		Alliance of Genome Resources
spinal muscular atrophy with progressive myoclonic epilepsy	ASAH1*	Asah1		Alliance of Genome Resources
spinal neurofibromatosis	NF1*	Nf1		Alliance of Genome Resources
spinocerebellar ataxia 10	ATXN10*	Atxn10		Alliance of Genome Resources
spinocerebellar ataxia 11	TTBK2*	Ttbk2		Alliance of Genome Resources
spinocerebellar ataxia 12	PPP2R2B*	Ppp2r2b		Alliance of Genome Resources
spinocerebellar ataxia 13	KCNC3*	Kcnc3		Alliance of Genome Resources
spinocerebellar ataxia 15	ITPR1*	Itpr1	2 models	Alliance of Genome Resources
spinocerebellar ataxia 19/22	KCND3*	Kcnd3		Alliance of Genome Resources
spinocerebellar ataxia 21	TMEM240*	Tmem240		Alliance of Genome Resources
spinocerebellar ataxia 23	PDYN*	Pdyn		Alliance of Genome Resources
spinocerebellar ataxia 25	PNPT1*	Pnpt1		Alliance of Genome Resources
spinocerebellar ataxia 26	EEF2*	Eef2		Alliance of Genome Resources
spinocerebellar ataxia 29	ITPR1*	Itpr1		Alliance of Genome Resources
spinocerebellar ataxia 31	BEAN1*	Bean1		Alliance of Genome Resources
spinocerebellar ataxia 34	ELOVL4*	Elovl4		Alliance of Genome Resources
spinocerebellar ataxia 35	TGM6*	Tgm6		Alliance of Genome Resources
spinocerebellar ataxia 36	NOP56*	Nop56		Alliance of Genome Resources
spinocerebellar ataxia 37	DAB1*	Dab1		Alliance of Genome Resources
spinocerebellar ataxia 38	ELOVL5*	Elovl5		Alliance of Genome Resources
spinocerebellar ataxia 4	ZFHX3*	Zfhx3		Alliance of Genome Resources
spinocerebellar ataxia 40	CCDC88C*	Ccdc88c		Alliance of Genome Resources
spinocerebellar ataxia 44	GRM1*	Grm1		Alliance of Genome Resources
spinocerebellar ataxia 45	FAT2*	Fat2		Alliance of Genome Resources
spinocerebellar ataxia 46	PLD3*	Pld3		Alliance of Genome Resources
spinocerebellar ataxia 8	ATXN8OS*
spinocerebellar ataxia 8	ATXN8*
spinocerebellar ataxia with axonal neuropathy 2	SETX*	Setx		Alliance of Genome Resources
split hand-foot malformation 1 with sensorineural hearing loss	DLX5*	Dlx5		Alliance of Genome Resources
split hand-foot malformation 4	TP63*	Trp63		Alliance of Genome Resources
split hand-foot malformation 6	WNT10B*	Wnt10b		Alliance of Genome Resources
SPOAN syndrome	KLC2*	Klc2		Alliance of Genome Resources
spondylocostal dysostosis 1	DLL3*	Dll3		Alliance of Genome Resources
spondylocostal dysostosis 2	MESP2*	Mesp2		Alliance of Genome Resources
spondylocostal dysostosis 3	LFNG*	Lfng		Alliance of Genome Resources
spondylocostal dysostosis 4	HES7*	Hes7		Alliance of Genome Resources
spondylocostal dysostosis 5	TBX6*	Tbx6		Alliance of Genome Resources
spondylocostal dysostosis 6	RIPPLY2*	Ripply2		Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Genevieve-type	NANS*	Nans		Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Missouri type	MMP13*	Mmp13		Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Sponastrime type	TONSL*	Tonsl		Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Strudwick type	COL2A1*	Col2a1		Alliance of Genome Resources
spondyloepimetaphyseal dysplasia with joint laxity type 1	B3GALT6*	B3galt6		Alliance of Genome Resources
spondyloepimetaphyseal dysplasia with joint laxity type 2	KIF22*	Kif22		Alliance of Genome Resources
spondyloepimetaphyseal dysplasia with joint laxity type 3	EXOC6B*	Exoc6b		Alliance of Genome Resources
spondyloepiphyseal dysplasia Kimberley type	ACAN*	Acan		Alliance of Genome Resources
spondyloepiphyseal dysplasia Kondo-Fu type	MBTPS1*	Mbtps1		Alliance of Genome Resources
spondyloepiphyseal dysplasia Maroteaux type	TRPV4*	Trpv4		Alliance of Genome Resources
spondyloepiphyseal dysplasia Nishimura type	MIR140*	Mir140		Alliance of Genome Resources
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis	NMNAT1*	Nmnat1		Alliance of Genome Resources
spondyloepiphyseal dysplasia Stanescu type	COL2A1*	Col2a1		Alliance of Genome Resources
spondylometaepiphyseal dysplasia, short limb-hand type	DDR2*	Ddr2		Alliance of Genome Resources
spondylometaphyseal dysplasia corner fracture type	FN1*	Fn1		Alliance of Genome Resources
spondylometaphyseal dysplasia Kozlowski type	TRPV4*	Trpv4		Alliance of Genome Resources
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type	PAM16*	Pam16		Alliance of Genome Resources
spondylometaphyseal dysplasia Sedaghatian type	GPX4*	Gpx4		Alliance of Genome Resources
spondylometaphyseal dysplasia with cone-rod dystrophy	PCYT1A*	Pcyt1a		Alliance of Genome Resources
spondylometaphyseal dysplasia with corneal dystrophy	PLCB3*	Plcb3		Alliance of Genome Resources
spondyloperipheral dysplasia	COL2A1*	Col2a1		Alliance of Genome Resources
steatocystoma multiplex	KRT17*	Krt17		Alliance of Genome Resources
Stickler syndrome 1	COL2A1*	Col2a1		Alliance of Genome Resources
Stickler syndrome 2	COL11A1*	Col11a1		Alliance of Genome Resources
stiff skin syndrome	FBN1*	Fbn1		Alliance of Genome Resources
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures	ADPRS*	Adprs		Alliance of Genome Resources
striatal degeneration 2	PDE10A*	Pde10a		Alliance of Genome Resources
Sweeney-Cox syndrome	TWIST1*	Twist1		Alliance of Genome Resources
syndactyly-telecanthus-anogenital and renal malformations syndrome	CCNQ*	Ccnq		Alliance of Genome Resources
syndactyly type 1	IHH*	Ihh		Alliance of Genome Resources
syndactyly type 3	GJA1*	Gja1		Alliance of Genome Resources
syndactyly type 4	LMBR1*	Lmbr1		Alliance of Genome Resources
syndactyly type 4	SHH*	Shh		Alliance of Genome Resources
syndactyly type 5	HOXD13*	Hoxd13		Alliance of Genome Resources
syndromic microphthalmia 12	RARB*	Rarb		Alliance of Genome Resources
syndromic microphthalmia 14	MAB21L2*	Mab21l2		Alliance of Genome Resources
syndromic microphthalmia 3	SOX2*	Sox2		Alliance of Genome Resources
syndromic microphthalmia 5	OTX2*	Otx2		Alliance of Genome Resources
syndromic microphthalmia 6	BMP4*	Bmp4		Alliance of Genome Resources
syndromic microphthalmia 9	STRA6*	Stra6		Alliance of Genome Resources
TANGO2-related metabolic encephalopathy and arrythmias	TANGO2*	Tango2		Alliance of Genome Resources
tarsal-carpal coalition syndrome	NOG*	Nog		Alliance of Genome Resources
temtamy preaxial brachydactyly syndrome	CHSY1*	Chsy1		Alliance of Genome Resources
Temtamy syndrome	C12orf57*	Grcc10		Alliance of Genome Resources
terminal osseous dysplasia	FLNA*	Flna		Alliance of Genome Resources
tetraamelia syndrome 1	WNT3*	Wnt3		Alliance of Genome Resources
tetraamelia syndrome 2	RSPO2*	Rspo2		Alliance of Genome Resources
thalassemia	GSTM1*, GSTM5	Gstm1, Gstm2, Gstm3, Gstm6		Alliance of Genome Resources
Thiel-Behnke corneal dystrophy	TGFBI*	Tgfbi		Alliance of Genome Resources
Thomsen disease	CLCN1*	Clcn1		Alliance of Genome Resources
thrombocytopenia-absent radius syndrome	RBM8A*	Rbm8a		Alliance of Genome Resources
thrombophilia due to activated protein C resistance	PROC*	Proc		Alliance of Genome Resources
thrombophilia due to activated protein C resistance	F5*	F5		Alliance of Genome Resources
thrombophilia due to HRG deficiency	HRG*	Hrg		Alliance of Genome Resources
thrombophilia due to thrombin defect	F2*	F2		Alliance of Genome Resources
thrombophilia due to thrombin defect	MTHFR*	Mthfr		Alliance of Genome Resources
thrombophilia due to thrombin defect	HABP2*	Habp2		Alliance of Genome Resources
thrombophilia due to thrombin defect	F13A1*	F13a1		Alliance of Genome Resources
thrombophilia due to thrombomodulin defect	THBD*	Thbd		Alliance of Genome Resources
thyroid dyshormonogenesis 1	SLC5A5*	Slc5a5		Alliance of Genome Resources
thyroid dyshormonogenesis 2A	TPO*	Tpo		Alliance of Genome Resources
thyroid dyshormonogenesis 3	TG*	Tg		Alliance of Genome Resources
thyroid dyshormonogenesis 4	IYD*	Iyd		Alliance of Genome Resources
thyroid dyshormonogenesis 5	DUOXA2*	Duoxa2		Alliance of Genome Resources
thyroid dyshormonogenesis 6	DUOX2*	Duox2		Alliance of Genome Resources
torsion dystonia 2	HPCA*	Hpca		Alliance of Genome Resources
torsion dystonia 4	TUBB4A*	Tubb4a		Alliance of Genome Resources
Townes-Brocks syndrome	DACT1*	Dact1		Alliance of Genome Resources
transient bullous dermolysis of the newborn	COL7A1*	Col7a1		Alliance of Genome Resources
transient infantile liver failure	TRMU*	Trmu		Alliance of Genome Resources
Treacher Collins syndrome 1	TCOF1*	Tcof1		Alliance of Genome Resources
Treacher Collins syndrome 2	POLR1D*	Polr1d		Alliance of Genome Resources
Treacher Collins syndrome 3	POLR1C*	Polr1c		Alliance of Genome Resources
Treacher Collins syndrome 4	POLR1B*	Polr1b		Alliance of Genome Resources
trichodontoosseous syndrome	DLX3*	Dlx3		Alliance of Genome Resources
trichohepatoenteric syndrome 1	SKIC3*	Skic3		Alliance of Genome Resources
trichohepatoenteric syndrome 2	SKIC2*	Skic2		Alliance of Genome Resources
trichorhinophalangeal syndrome type III	TRPS1*	Trps1		Alliance of Genome Resources
trimethylaminuria	FMO3*	Fmo3		Alliance of Genome Resources
triple-A syndrome	AAAS*	Aaas	1 "NOT" model	Alliance of Genome Resources
tuberous sclerosis 1	TSC1*	Tsc1		Alliance of Genome Resources
tuberous sclerosis 2	IFNG*	Ifng		Alliance of Genome Resources
tuberous sclerosis 2	TSC2*	Tsc2		Alliance of Genome Resources
type 1 diabetes mellitus 2	INS*	Ins1, Ins2		Alliance of Genome Resources
Ullrich congenital muscular dystrophy 1A	COL6A1*	Col6a1		Alliance of Genome Resources
Ullrich congenital muscular dystrophy 1B	COL6A2*	Col6a2		Alliance of Genome Resources
Ullrich congenital muscular dystrophy 1C	COL6A3*	Col6a3		Alliance of Genome Resources
Ullrich congenital muscular dystrophy 2	COL12A1*	Col12a1		Alliance of Genome Resources
urocanase deficiency	UROC1*	Uroc1		Alliance of Genome Resources
urofacial syndrome	LRIG2*	Lrig2		Alliance of Genome Resources
Usher syndrome	USH1C*	Ush1c		Alliance of Genome Resources
Usher syndrome	MYO7A*	Myo7a		Alliance of Genome Resources
Usher syndrome	ARSG*	Arsg		Alliance of Genome Resources
Usher syndrome	USH2A*	Ush2a		Alliance of Genome Resources
Usher syndrome type 1	USH1C*	Ush1c		Alliance of Genome Resources
Usher syndrome type 1D	PCDH15*	Pcdh15		Alliance of Genome Resources
Usher syndrome type 1J	CIB2*	Cib2	1 "NOT" model	Alliance of Genome Resources
Usher syndrome type 2	USH2A*	Ush2a		Alliance of Genome Resources
Usher syndrome type 2A	PDZD7*	Pdzd7		Alliance of Genome Resources
Usher syndrome type 2C	PDZD7*	Pdzd7		Alliance of Genome Resources
Usher syndrome type 3B	HARS1*	Hars1		Alliance of Genome Resources
uveal coloboma-cleft lip and palate-intellectual disability	YAP1*	Yap1		Alliance of Genome Resources
UV-sensitive syndrome	UVSSA*	Uvssa		Alliance of Genome Resources
UV-sensitive syndrome	ERCC8*	Ercc8		Alliance of Genome Resources
UV-sensitive syndrome	ERCC6*	Ercc6		Alliance of Genome Resources
Van den Ende-Gupta syndrome	SCARF2*	Scarf2		Alliance of Genome Resources
Van Maldergem syndrome 1	DCHS1*	Dchs1		Alliance of Genome Resources
Van Maldergem syndrome 2	FAT4*	Fat4		Alliance of Genome Resources
ventriculomegaly - cystic kidney disease	CRB2*	Crb2		Alliance of Genome Resources
vertebral anomalies and variable endocrine and T-cell dysfunction	TBX2*	Tbx2		Alliance of Genome Resources
vertebral hypersegmentation and orofacial anomalies	GDF11*	Gdf11		Alliance of Genome Resources
vestibular schwannomatosis	VEGFA*	Vegfa		Alliance of Genome Resources
vestibular schwannomatosis	SMARCB1*	Smarcb1		Alliance of Genome Resources
Vici syndrome	EPG5*	Epg5		Alliance of Genome Resources
visceral heterotaxy 10	CFAP52*	Cfap52		Alliance of Genome Resources
visceral heterotaxy 11	CFAP45*	Cfap45		Alliance of Genome Resources
visceral heterotaxy 12	CIROP*	Cirop		Alliance of Genome Resources
visceral heterotaxy 13	DAND5*	Dand5		Alliance of Genome Resources
visceral heterotaxy 2	CFC1*, CFC1B	Cfc1		Alliance of Genome Resources
visceral heterotaxy 5	ZIC3*	Zic3		Alliance of Genome Resources
visceral heterotaxy 5	NODAL*	Nodal		Alliance of Genome Resources
visceral heterotaxy 6	CFAP53*	Cfap53		Alliance of Genome Resources
visceral heterotaxy 7	MMP21*	Mmp21		Alliance of Genome Resources
visceral heterotaxy 8	PKD1L1*	Pkd1l1		Alliance of Genome Resources
visceral heterotaxy 9	MNS1*	Mns1		Alliance of Genome Resources
Vissers-Bodmer syndrome	CNOT1*	Cnot1		Alliance of Genome Resources
visual impairment and progressive phthisis bulbi	MARK3*	Mark3		Alliance of Genome Resources
vitamin D-dependent rickets type 1A	CYP27B1*	Cyp27b1		Alliance of Genome Resources
vitamin D-dependent rickets type 1B	CYP2R1*	Cyp2r1		Alliance of Genome Resources
vitamin D-dependent rickets type 2A	VDR*	Vdr		Alliance of Genome Resources
Vohwinkel syndrome	GJB2*	Gjb2		Alliance of Genome Resources
Vulto-van Silfout-de Vries syndrome	DEAF1*	Deaf1		Alliance of Genome Resources
Waardenburg syndrome	KITLG*	Kitl		Alliance of Genome Resources
Waardenburg syndrome	PAX3*	Pax3		Alliance of Genome Resources
Waardenburg syndrome	EDNRB*	Ednrb		Alliance of Genome Resources
Waardenburg syndrome	EDN3*	Edn3		Alliance of Genome Resources
Waardenburg syndrome	MITF*	Mitf		Alliance of Genome Resources
Waardenburg syndrome type 2E	SOX10*	Sox10		Alliance of Genome Resources
Waardenburg syndrome type 3	PAX3*	Pax3	5 "NOT" models	Alliance of Genome Resources
Walker-Warburg syndrome	POMT1*	Pomt1		Alliance of Genome Resources
Walker-Warburg syndrome	FKRP*	Fkrp		Alliance of Genome Resources
Walker-Warburg syndrome	FKTN*	Fktn		Alliance of Genome Resources
Walker-Warburg syndrome	POMT2*	Pomt2		Alliance of Genome Resources
Warburg micro syndrome 1	RAB3GAP1*	Rab3gap1		Alliance of Genome Resources
Warburg micro syndrome 2	RAB3GAP2*	Rab3gap2		Alliance of Genome Resources
Warsaw breakage syndrome	DDX11*, DDX11L8, DDX12P	Ddx11		Alliance of Genome Resources
Watson syndrome	NF1*	Nf1		Alliance of Genome Resources
Weill-Marchesani syndrome	LTBP2*	Ltbp2		Alliance of Genome Resources
Werner syndrome	LMNA*	Lmna		Alliance of Genome Resources
Weyers acrofacial dysostosis	EVC2*	Evc2		Alliance of Genome Resources
Weyers acrofacial dysostosis	EVC*	Evc		Alliance of Genome Resources
WHIM syndrome 2	CXCR2*	Cxcr2		Alliance of Genome Resources
white sponge nevus 1	KRT4*	Krt4		Alliance of Genome Resources
white sponge nevus 2	KRT13*	Krt13		Alliance of Genome Resources
White-Sutton syndrome	POGZ*	Pogz		Alliance of Genome Resources
Wiedemann-Rautenstrauch syndrome	POLR3A*	Polr3a		Alliance of Genome Resources
Williams-Beuren syndrome	RCC1L*	Rcc1l		Alliance of Genome Resources
Williams-Beuren syndrome	NCF1*, NCF1B, NCF1C	Ncf1		Alliance of Genome Resources
Williams-Beuren syndrome	LAT2*	Lat2	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	FZD3*	Fzd3		Alliance of Genome Resources
Williams-Beuren syndrome	BUD23*	Bud23	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	FKBP6*	Fkbp6	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	ELN*	Eln	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	DNAJC30*	Dnajc30	2 models	Alliance of Genome Resources
Wolfram syndrome 2	CISD2*	Cisd2	1 model	Alliance of Genome Resources
Woodhouse-Sakati syndrome	DCAF17*	Dcaf17		Alliance of Genome Resources
Worth syndrome	LRP5*	Lrp5		Alliance of Genome Resources
wrinkly skin syndrome	ATP6V0A2*	Atp6v0a2		Alliance of Genome Resources
xanthinuria type I	XDH*	Xdh		Alliance of Genome Resources
xeroderma pigmentosum	ERCC2*	Ercc2		Alliance of Genome Resources
xeroderma pigmentosum	ERCC3*	Ercc3		Alliance of Genome Resources
xeroderma pigmentosum	ERCC4*	Ercc4		Alliance of Genome Resources
xeroderma pigmentosum	DDB2*	Ddb2		Alliance of Genome Resources
xeroderma pigmentosum	XPA*	Xpa		Alliance of Genome Resources
xeroderma pigmentosum	XPC*	Xpc		Alliance of Genome Resources
XFE progeroid syndrome	ERCC4*	Ercc4		Alliance of Genome Resources
X-linked keratosis follicularis spinulosa decalvans	MBTPS2*	Mbtps2		Alliance of Genome Resources
Yoon-Bellen neurodevelopmental syndrome	OGDHL*	Ogdhl		Alliance of Genome Resources
Zellweger syndrome	ABCD3*	Abcd3		Alliance of Genome Resources
Zellweger syndrome	NR5A1*	Nr5a1		Alliance of Genome Resources
Zellweger syndrome	PHYH*	Phyh		Alliance of Genome Resources

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	Transgenes and other genome features developed in mice to model this disease.
	Disease Term	Transgenes and Other Genome Features	Mouse Models
	abdominal obesity-metabolic syndrome	Tg(RP11-578M14)5Mkru	1 model
	abdominal obesity-metabolic syndrome 1	Tg(Fabp4-Hsd11b1)7Jesf	1 model
	abdominal obesity-metabolic syndrome 1	Tg(Fabp4-ENPP1)#Naba	1 model
	adult-onset myofibrillar myopathy 2A	Tg(Myh6-Cryab*R120G)708Rbns	1 model
	adult-onset myofibrillar myopathy 2A	Tg(Myh6-CRYAB*R120G)7302Ijb	1 model
	advanced sleep phase syndrome 1	Tg(PER2*S662G)867Ljp	1 model
	advanced sleep phase syndrome 2	Tg(CSNK1D*,-EGFP)827Yfu	1 model
	advanced sleep phase syndrome 2	Tg(CSNK1D*,-EGFP)816Yfu	1 model
	age related macular degeneration 1	Tg(APOB)1102Sgy	1 model
	Alexander disease	Tg(Gfap-GFAP*R239H)60TMIke	1 model
	Alexander disease	Tg(GFAP)10Mes	3 models
	Alexander disease	Tg(GFAP)7Mes	1 model
	alpha thalassemia	Hba	8 models
	Alzheimer's disease 3	Tg(APPswe,PSEN1dE9)85Dbo	2 models
	Alzheimer's disease 3	Tg(PSEN1H163R)G9Btla	1 model
	Alzheimer's disease 3	Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas	1 model
	Alzheimer's disease 3	Tg(PSEN1dE9)S9Dbo	4 models
	Alzheimer's disease 4	Tg(APP695)3Dbo	3 models
	amyotrophic lateral sclerosis type 1	Tg(Myl1-SOD1*G93A)#Amu	1 model
	amyotrophic lateral sclerosis type 1	Tg(NEFH)200Jpj	2 models
	amyotrophic lateral sclerosis type 1	Tg(NFH)120Jpj	2 models
	amyotrophic lateral sclerosis type 1	Tg(Prnp-Immt/SOD1*G93A)7Gmnf	1 model
	amyotrophic lateral sclerosis type 1	Tg(Prnp-SOD1*G37R,-PSEN1)110Dbo	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*)125Dbo	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*)D-14Dbo	2 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*)DF7Yaw	2 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G37R)1Dwc	2 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G37R)9Dpr	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G37R)29Dpr	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G37R)42Dpr	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G37R)106Dpr	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G85R)74Dwc	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G85R)148Dwc	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G85R)#Roos	2 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G85R/EYFP)641Alho	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G85R/EYFP)737Alho	1 model
	amyotrophic lateral sclerosis type 1	Tg(Sod1*G86R)M1Jwg	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G93A)1Gur	6 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G93A)2Gur	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G93A)dl1Gur	2 models
	amyotrophic lateral sclerosis type 1	Tg(SOD1*G127X)716Mrkl	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*H46R)#Maw	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*H46R)IAra	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*H46R)LAra	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*H46R*H48Q)58Dbo	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*H46R*H48Q)139Dbo	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*L126Z)45Dbo	1 model
	amyotrophic lateral sclerosis type 1	Tg(SOD1*L126Z)#Deng	2 models
	amyotrophic lateral sclerosis type 1	Tg(Thy1-DCTN1*G59S)M2Pcw	1 model
	amyotrophic lateral sclerosis type 1	Tg(Thy1-Sncg)HvP36Putt	1 model
	amyotrophic lateral sclerosis type 1	Tg(Thy1-SOD1*G93A)T3Hgrd	2 models
	arrhythmogenic right ventricular dysplasia 12	Tg(Myh6-JUP*)1Dpju	1 model
	arrhythmogenic right ventricular dysplasia 12	Tg(Myh6-Jup*)1Ajm	2 models
	arrhythmogenic right ventricular dysplasia 9	Tg(Myh6-Pkp2*/mRuby)4Rbrug	2 models
	arrhythmogenic right ventricular dysplasia 9	Tg(Myh6-Pkp2*/mRuby)5Rbrug	2 models
	atrichia with papular lesions	Tg(K6ODCtr)55Tgo	1 model
	autosomal dominant auditory neuropathy 1	Tg(CAG-Diaph3)771Lesp	1 model
	autosomal dominant auditory neuropathy 1	Tg(CAG-Diap3)924Lesp	1 model
	autosomal dominant hypophosphatemic rickets	Tg(APOE-FGF23*R176Q)#Ack	1 model
	autosomal dominant keratitis-ichthyosis-deafness syndrome	Tg(tetO-GJB2*G45E,-EGFP)#Tww	1 model
	autosomal dominant limb-girdle muscular dystrophy type 1	Tg(Ckm-DNAJB6_ib*F93L)#Ccwe	1 model
	autosomal dominant nocturnal frontal lobe epilepsy 3	Tg(tetO-Chrnb2*V287L)H3Gica	1 model
	autosomal dominant polycystic kidney disease	Tg(HBB-Myc)#Cos	1 model
	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	Tg(ACTB-Twnk*)DSuom	1 model
	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	Tg(ACTB-Twnk*A360T)HSuom	1 model
	autosomal dominant tubulointerstitial kidney disease	Tg(Umod*C147W)958Lura	1 model
	autosomal dominant tubulointerstitial kidney disease	Tg(Umod*C217G)1Xrw	1 model
	autosomal recessive hypophosphatemic rickets	Tg(APOE-FGF23*R176Q)#Ack	1 model
	autosomal recessive nonsyndromic deafness 1A	Del(14Gjb6-Cryl1)1Lmon	1 model
	autosomal recessive nonsyndromic deafness 38	Phl1	2 models
	autosomal recessive polycystic kidney disease	T(2;10)67Gso	1 model
	autosomal recessive polycystic kidney disease	Tg(Pkd1)26Mtru	1 model
	Axenfeld-Rieger syndrome type 1	Tg(Kera-PITX2*A)BHjal	1 model
	Axenfeld-Rieger syndrome type 1	Tg(KRT14-Hmgn2)#Baam	1 model
	Axenfeld-Rieger syndrome type 1	Tg(Kera-PITX2*A)AHjal	1 model
	beta thalassemia	Rr320	2 models
	beta thalassemia	Hbb	6 models
	CADASIL 1	Tg(Notch3*R169C)88Bbb	1 model
	Carney complex	Tg(tetO-Prkar1a*x2as)1Stra	1 model
	cataract 19 multiple types	Tg(Lim2*G15V)1Rlc	2 models
	cataract 2 multiple types	Tg(CRYBB1-CRYGC*)#Jfhe	1 model
	cataract 30	Tg(Vim*R113C)1Tmm	1 model
	cataract 5 multiple types	Tg(Hsf4/EGFP)N7Spbh	1 model
	Charcot-Marie-Tooth disease axonal type 2F	Tg(Thy1-HSPB1*S135F)#Lvdb	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(Pmp22)247Ueli	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(PMP22)C61Clh	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(PMP22)C22Clh	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(Pmp22)My41Clh	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(tetO/CMV-Pmp22)JP18Clh	1 model
	Charcot-Marie-Tooth disease type 1A	Tg(PMP22)C3Fbas	1 model
	Charcot-Marie-Tooth disease type 1B	Tg(Mpz*S63X)30Mes	1 model
	Charcot-Marie-Tooth disease type 1B	Tg(Mpz)88.1Mfel	1 model
	Charcot-Marie-Tooth disease type 1B	Tg(Mpz*S63X)31Mes	2 models
	Charcot-Marie-Tooth disease type 1B	Tg(Mpz)88.2Mfel	1 model
	Charcot-Marie-Tooth disease type 1B	Tg(Mpz)88.4Mfel	1 model
	Charcot-Marie-Tooth disease type 1C	Tg(CMV-LITAF*W116G)#Lli	1 model
	Charcot-Marie-Tooth disease type 2A2A	Tg(Mnx1-Mfn2*T105M,-EGFP)1Dcc	1 model
	Charcot-Marie-Tooth disease type 2A2A	Tg(Eno2-MFN2*R94Q)L51Ugfm	2 models
	Charcot-Marie-Tooth disease type 2A2A	Tg(Eno2-MFN2*R94Q)L87Ugfm	1 model
	Charcot-Marie-Tooth disease type 2E	Tg(tetO-NEFL)173.2Jpj	1 model
	Charcot-Marie-Tooth disease type 2E	Tg(NEFL*E397K)1Milg	1 model
	Charcot-Marie-Tooth disease type 3	Tg(Mpz*S63C)32Mes	1 model
	Charcot-Marie-Tooth disease type 3	Tg(Mpz*S63C)33Mes	1 model
	Charcot-Marie-Tooth disease type 4J	Tg(ACTB-Fig4*I41T)705Mm	1 model
	chromosome 17q12 deletion syndrome	Del(11Hnf1b-Znhit3)11Moro	1 model
	congenital generalized lipodystrophy type 2	Tg(aP2-SREBF1c)9884Reh	1 model
	congenital myasthenic syndrome 3A	Tg(Ckm-Chrnd*S262T)40Cgz	1 model
	congenital myasthenic syndrome 4A	Tg(Ckm-Chrne*L269F)5Cgz	1 model
	congenital myopathy 4B	Tg(ACTA1-TPM3*M9R)4Hrd	1 model
	congenital stationary night blindness autosomal dominant 1	Tg(Rho*G90D*A337V)202Sie	1 model
	cystic fibrosis	Tg(Scgb1a1-Scnn1b)6608Bouc	1 model
	dentatorubral-pallidoluysian atrophy	Tg(Prnp-ATN1)150Dbo	1 model
	dentatorubral-pallidoluysian atrophy	Tg(Prnp-ATN1)124Dbo	1 model
	dentatorubral-pallidoluysian atrophy	Tg(Eno2-ATN1)14Tx	1 model
	dentatorubral-pallidoluysian atrophy	Tg(ATN1*)Q129Stsu	1 model
	dentatorubral-pallidoluysian atrophy	Tg(Eno2-ATN1)3Tx	1 model
	DiGeorge syndrome	Del(16Dgcr2-Hira)1Rak	1 model
	DiGeorge syndrome	Del(16Dgcr2-Hira)3Aam	1 model
	DiGeorge syndrome	Del(16Es2el-Ufd1l)217Bld	1 model
	dilated cardiomyopathy 1A	Tg(Myh6-LMNA*E82K)35Lizh	1 model
	dilated cardiomyopathy 1C	Tg(Myh6-LDB3*S196L)93Mva	1 model
	dilated cardiomyopathy 1D	Tg(Myh6-TNNT2*R141W)#Ajm	1 model
	dilated cardiomyopathy 1D	Tg(Myh6-TNNT2*R141W)#Lian	1 model
	dilated cardiomyopathy 1E	Tg(Myh6*/tetO-SCN5A*F1759A)#Marx	1 model
	dilated cardiomyopathy 1R	Tg(Myh6-ACTC1*E361G)361.20Sbm	1 model
	dilated cardiomyopathy 1R	Tg(Myh6-Actc1*R312H)307Iko	1 model
	dilated cardiomyopathy 1Y	Tg(Myh6-Tpm1*D230N)HJcf	1 model
	dilated cardiomyopathy 1Y	Tg(Myh6-Tpm1*E54K)30Dfw	1 model
	dilated cardiomyopathy 1Y	Tg(Myh6-Tpm1*E54K)67Dfw	1 model
	familial cold autoinflammatory syndrome 4	Tg(Cd74-Nlrc4*)1Kyas	1 model
	familial encephalopathy with neuroserpin inclusion bodies	Tg(Thy1-SERPINI1*G392E)333Icka	2 models
	familial temporal lobe epilepsy 1	Tg(Lgi1*)#Mpan	1 model
	Feingold syndrome	Mirc1	1 model
	fibrodysplasia ossificans progressiva	Tg(Eno2-Bmp4)3Jake	1 model
	fibrodysplasia ossificans progressiva	Tg(CAG-LacZ,-ACVR1*,-EGFP)35-1Mis	1 model
	Finnish type amyloidosis	Tg(Ckm-GSN*D187N)AJewe	2 models
	focal segmental glomerulosclerosis 2	Tg(NPHS2-Trpc6*P111Q)F615Walz	1 model
	focal segmental glomerulosclerosis 2	Tg(NPHS2-Trpc6*E896K)F75aWalz	1 model
	focal segmental glomerulosclerosis 2	Tg(NPHS2-Trpc6)F419Walz	1 model
	frontotemporal dementia 2	Tg(Camk2a-Tardbp)#Ckjs	1 model
	frontotemporal dementia 2	Tg(Thy1-TARDBP*)BOddo	2 models
	frontotemporal dementia 2	Tg(TARDBP*G348C)#Jpj	1 model
	frontotemporal dementia 2	Tg(TARDBP*A315T)#Jpj	1 model
	frontotemporal dementia 2	Tg(TARDBP)#Jpj	1 model
	frontotemporal dementia 2	Tg(Prnp-TARDBP)3cPtrc	1 model
	hereditary systemic amyloidosis 1	Tg(TTR)#Jbux	1 model
	hereditary systemic amyloidosis 1	Tg(TTR-V30M)15Imeg	3 models
	hyperekplexia 1	Tg(Thy1-GLRA1*R271Q)300Wha	1 model
	hyperekplexia 1	Tg(Thy1-GLRA1*R271Q)382Wha	1 model
	hyper IgE recurrent infection syndrome 1	Tg(Stat3*)9199Alau	1 model
	idiopathic pulmonary fibrosis	Tg(H2-K-Fosl2,-EGFP)13Wag	1 model
	idiopathic pulmonary fibrosis	Tg(SFTPC-Tnf)2Pva	1 model
	juvenile polyposis syndrome	Tg(CAG-Bmpr1a*,-lacZ)1Nobs	1 model
	Koolen de Vries syndrome	Del(11Arf2-Kansl1)8Yah	1 model
	Lafora disease	Tg(CAG-EPM2A*C266S)1Bmin	1 model
	leukoencephalopathy with vanishing white matter	Tg(Plp1-Eif2ak3*)18Pop	1 model
	long QT syndrome 1	Tg(Myh6-KCNQ1_i2)H02Desc	1 model
	long QT syndrome 1	Tg(Myh6-KCNQ1_i2)H05Desc	1 model
	Machado-Joseph disease	Tg(Htt-ATXN3*148Q)3746Thsc	1 model
	Machado-Joseph disease	Tg(Prnp-ATXN3*70Q)70.61Olri	1 model
	Machado-Joseph disease	Tg(Prnp-ATXN3*148Q)NLS.28Olri	1 model
	Machado-Joseph disease	Tg(Prnp-ATXN3*148Q)148.19Olri	1 model
	Machado-Joseph disease	Tg(CMV-ATXN3*94Q)94Pama	2 models
	Machado-Joseph disease	Tg(CMV-ATXN3*135Q)CPama	1 model
	Machado-Joseph disease	Tg(Prnp-ATXN3*79Q)#Hlw	1 model
	Machado-Joseph disease	Tg(Pcp2-ATXN3*69Q)bHirai	1 model
	Machado-Joseph disease	Tg(ATXN3*)84.2Cce	3 models
	Machado-Joseph disease	Tg(ATXN3*)67.2Cce	2 models
	Marsili syndrome	Tg(Zfhx2*R1907K)#Jcox	1 model
	maturity-onset diabetes of the young type 3	Tg(Ins2-TCF1*P291)2Kya	1 model
	maturity-onset diabetes of the young type 3	Tg(Ins2-Hnf1a)#Cbw	1 model
	McCune Albright syndrome	Tg(PGK1-Gnas*R201C)60Pabi	1 model
	McCune Albright syndrome	Tg(EEF1A1-Gnas*R201C)184Pabi	1 model
	McCune Albright syndrome	Tg(tetO-HTR4*D100A)2Niss	1 model
	myofibrillar myopathy 1	Tg(Myh6-Des*)641Rbns	1 model
	myofibrillar myopathy 3	Tg(ACTA1-MYOT*T57I)71Mah	1 model
	myofibrillar myopathy 6	Tg(Myh6-BAG3*P209L)#Mswi	1 model
	nemaline myopathy 3	Tg(ACTA1*D286G/EGFP)#Kjno	1 model
	nemaline myopathy 3	Tg(ACTA1*D286G)#Kjno	2 models
	Netherton syndrome	Tg(IVL-KLK5)#Hov	1 model
	neurodegeneration with brain iron accumulation 3	Tg(PGK1-FTL*)#Sle	1 model
	neurodegeneration with brain iron accumulation 3	Tg(Prnp-FTL*)4Ruvi	1 model
	Noonan syndrome 1	Tg(CAG-cat,-Ptpn11*Q97R)1Rbns	2 models
	Noonan syndrome 1	Tg(Myh7-Ptpn11*Q79R)11Rbns	1 model
	Noonan syndrome with multiple lentigines	Tg(Myh7-Ptpn11*Q510E)#Krnz	1 model
	Noonan syndrome with multiple lentigines	Tg(CAG-cat,-Ptpn11*Q510E)#Krnz	1 model
	osteogenesis imperfecta type 1	Tg(COL1A1)73Prc	1 model
	osteogenesis imperfecta type 5	Tg(Col1a1-Ifitm5*)1Brle	1 model
	Parkinson's disease 1	Tg(Thy1-SNCA*E57K)16Ema	1 model
	Parkinson's disease 1	Tg(THY1-SNCA*A53T)M53Sud	1 model
	Parkinson's disease 1	Tg(PDGFB-SNCA)4Ema	1 model
	Parkinson's disease 1	Tg(Thy1-SNCA*A30P)18Pjk	1 model
	Parkinson's disease 1	Tg(PDGFB-SNCA*A53T)8Ema	1 model
	Parkinson's disease 1	Tg(Thy1-SNCA*)#Ztzh	1 model
	Parkinson's disease 1	Tg(Thy1-SNCA)61Ema	1 model
	Parkinson's disease 1	Tg(Th-SNCA*)1702Yosh	1 model
	Parkinson's disease 1	Tg(Snca-SNCA)#Galt	1 model
	Parkinson's disease 1	Tg(SNCA*E46K)3Elan	1 model
	Parkinson's disease 1	Tg(SNCA)ARyot	1 model
	Parkinson's disease 1	Tg(Prnp-SNCA*A53T)AAub	2 models
	Parkinson's disease 1	Tg(Prnp-SNCA*A53T)83Vle	2 models
	Parkinson's disease 1	Tg(Prnp-SNCA*A53T)25Mkle	1 model
	Parkinson's disease 1	Tg(PDGFB-SNCA/EGFP)78Ema	1 model
	Parkinson's disease 2	Tg(Slc6a3-PARK2*Q311X)AXwy	1 model
	Parkinson's disease 4	Tg(Thy1-Snca)1S13Putt	1 model
	Parkinson's disease 8	Tg(Lrrk2*G2019S)2Yue	1 model
	Parkinson's disease 8	Tg(PDGFB-LRRK2*G2019S)32Hlw	1 model
	Parkinson's disease 8	Tg(PDGFB-LRRK2*R1441C)31Hlw	1 model
	paroxysmal nonkinesigenic dyskinesia 1	Tg(Pnkd*A7V*A9V,-DsRed)704Ljp	1 model
	paroxysmal nonkinesigenic dyskinesia 1	Tg(Pnkd*A7V*A9V,-DsRed)671Ljp	1 model
	PCWH syndrome	Tg(Venus/SOX10*)55Kein	2 models
	Perry syndrome	Tg(Thy1-DCTN1*G71A)#Ytsu	1 model
	polycystic kidney disease 1	Tg(Pkd1*)39Mtru	2 models
	polycystic kidney disease 2	Tg(CAG-PKD2)#Hwl	1 model
	progeria	Tg(LMNA*G608G)HClns	1 model
	progeria	Tg(tetO-LMNA*G608G,-EGFP)VF1-07Maer	1 model
	pseudoachondroplasia	Tg(Col2a1-rtTA,tetO-COMP*)2Jath	1 model
	retinitis pigmentosa 4	Tg(RHO-P23H)DTpd	1 model
	retinitis pigmentosa 4	Tg(RHO*P347S)A1Tili	3 models
	retinitis pigmentosa 4	Tg(Rho)1Wbae	1 model
	rippling muscle disease 2	Tg(Ckmm-Cav3)1Ysu	1 model
	Sandhoff disease	Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa	1 model
	Sandhoff disease	Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa	1 model
	SOST-related sclerosing bone dysplasia	Tg(RP11-209M4)AGglo	2 models
	SOST-related sclerosing bone dysplasia	Rr20	1 model
	Sotos syndrome	Del(13Simc1-B4galt7)2Dja	1 model
	spinocerebellar ataxia 1	Tg(tetO-ATXN1*82Q)#Horr	1 model
	spinocerebellar ataxia 1	Tg(Pcp2-ATXN1*82Q)5Horr	1 model
	spinocerebellar ataxia 10	Tg(Prnp-lacZ/ATXN10*)#Teas	1 model
	spinocerebellar ataxia 14	Tg(tetO-PRKCG*S361G,-GFP)3Jpka	1 model
	spinocerebellar ataxia 17	Tg(Prnp-TBP*)105Xjl	1 model
	spinocerebellar ataxia 17	Tg(Pcp2-TBP*)69Hmhl	1 model
	spinocerebellar ataxia 17	Tg(Prnp-TBP*)71-16Xjl	1 model
	spinocerebellar ataxia 17	Tg(Prnp-TBP*)71-27Xjl	1 model
	spinocerebellar ataxia 2	Tg(Pcp2-ATXN2*127Q)#Plt	1 model
	spinocerebellar ataxia 2	Tg(ATXN2*72Q)#Plt	1 model
	spinocerebellar ataxia 5	Tg(tetO-SPTBN2*)#Lpwr	1 model
	spinocerebellar ataxia 7	Tg(Pcp2-SCA7)P7EJman	1 model
	spinocerebellar ataxia 7	Tg(GFAP-ATXN7*92Q)2521Als	1 model
	spinocerebellar ataxia 7	Tg(GFAP-ATXN7*92Q)2542Als	1 model
	spinocerebellar ataxia 7	Tg(Prnp-ATXN7*92Q)1963Als	1 model
	spinocerebellar ataxia 7	Tg(Prnp-ATXN7*92Q)6076Als	1 model
	spinocerebellar ataxia 7	Tg(RHO-SCA7)R7EJman	1 model
	split hand-foot malformation 1	Del(6Dlx6-Dlx5)1Tlu	1 model
	spondyloepiphyseal dysplasia congenita	Tg(Col2a1*R789C)#Waho	1 model
	Stargardt disease	Tg(RBP3-ELOVL4*)1Kzh	1 model
	Stargardt disease	Tg(RBP3-ELOVL4*)3Kzh	1 model
	Stargardt disease	Tg(RBP3-ELOVL4*)2Kzh	1 model
	torsion dystonia 1	Tg(Eno2-TOR1A*)13Shas	1 model
	torsion dystonia 1	Tg(CMV-TOR1A*)1Nush	1 model
	torsion dystonia 1	Tg(CMV-TOR1A*)2Nush	1 model
	tuberous sclerosis	Tg(CAG-Mtor*)#Atai	1 model
	tuberous sclerosis	Tg(CMV-Tsc2*)1Arbi	1 model
	type 1 diabetes mellitus 2	Tg(Ins-Igf2)1Fbos	3 models
	typical adult-onset autosomal dominant demyelinating leukodystrophy	Tg(Plp1-LMNB1)1108Qsp	1 model
	typical adult-onset autosomal dominant demyelinating leukodystrophy	Tg(Plp1-Lmnb1)#Yfu	1 model
	typical adult-onset autosomal dominant demyelinating leukodystrophy	Tg(Lmnb1)1Yfu	1 model
	Usher syndrome type 3	Tg(Atoh1-Clrn1)#Kuna	2 models
	Werner syndrome	Tg(CAG-WRN*K577M)5025Wcl	1 model
	Williams-Beuren syndrome	Del(5Gtf2i-Fkbp6)1Vcam	1 model
	xeroderma pigmentosum	Tg(KRT5-Terf2)POBlas	1 model
	xeroderma pigmentosum	Tg(KRT5-Terf2)PMBlas	1 model