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
			acrocallosal syndrome	KIF7*	Kif7*	1 model	Alliance of Genome Resources
			Adams-Oliver syndrome	DLL4*	Dll4*	1 model	Alliance of Genome Resources
			adult hypophosphatasia	ALPL*	Alpl*	9 models	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
			Allan-Herndon-Dudley syndrome	SLC16A2*	Slc16a2*	1 model	Alliance of Genome Resources
			Alstrom syndrome	ALMS1*	Alms1*	6 models	Alliance of Genome Resources
			Angelman syndrome	UBE3A*	Ube3a*	5 models	Alliance of Genome Resources
			ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	TP63*	Trp63*	1 model	Alliance of Genome Resources
			autoimmune interstitial lung, joint, and kidney disease	COPA*	Copa*	1 model	Alliance of Genome Resources
			autosomal dominant congenital deafness with onychodystrophy	ATP6V1B2*	Atp6v1b2*	2 models	Alliance of Genome Resources
			autosomal dominant keratitis-ichthyosis-deafness syndrome	GJB2*	Gjb2*	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 Robinow syndrome	ROR2*	Ror2*	2 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
			Beckwith-Wiedemann syndrome	CDKN1C*	Cdkn1c*	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
			brachyolmia-amelogenesis imperfecta syndrome	LTBP3*	Ltbp3*	1 model	Alliance of Genome Resources
			branchiootorenal syndrome	EYA1*	Eya1*	4 models	Alliance of Genome Resources
			branchiootorenal syndrome	SIX1*	Six1*	1 model	Alliance of Genome Resources
			cardiofaciocutaneous syndrome	BRAF*	Braf*	6 models	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
			CEDNIK syndrome	SNAP29*	Snap29*	2 models	Alliance of Genome Resources
			cerebrocostomandibular syndrome	SNRPB*	Snrpb*	1 model	Alliance of Genome Resources
			CHARGE syndrome	CHD7*	Chd7*	21 models	Alliance of Genome Resources
			Chediak-Higashi syndrome	LYST*	Lyst*	9 models	Alliance of Genome Resources
			childhood hypophosphatasia	ALPL*	Alpl*	1 model	Alliance of Genome Resources
			chondrodysplasia-pseudohermaphroditism syndrome	HHAT*	Hhat*	1 model	Alliance of Genome Resources
			cleft lip	IRF6*	Irf6*	1 model	Alliance of Genome Resources
			Clouston syndrome	GJB6*	Gjb6*	1 model	Alliance of Genome Resources
			CLOVES syndrome	PIK3CA*	Pik3ca*	1 model	Alliance of Genome Resources
			Cockayne syndrome	ERCC8*	Ercc8*	2 models	Alliance of Genome Resources
			Cockayne syndrome	ERCC6*	Ercc6*	4 models	Alliance of Genome Resources
			Coffin-Lowry syndrome	RPS6KA3*	Rps6ka3*	5 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
			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 heart defects, dysmorphic facial features, and intellectual developmental disorder	CDK13*	Cdk13*	1 model	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
			Cornelia de Lange syndrome 5	HDAC8*	Hdac8*	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
			craniofrontonasal syndrome	EFNB1*	Efnb1*	1 model	Alliance of Genome Resources
			cystic fibrosis	CFTR*	Cftr*	19 models	Alliance of Genome Resources
			Denys-Drash syndrome	WT1*	Wt1*	6 models	Alliance of Genome Resources
			DiGeorge syndrome	TBX1*	Tbx1*	24 models	Alliance of Genome Resources
			Donnai-Barrow syndrome	LRP2*	Lrp2*	1 model	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
ectodermal dysplasia 1	EDA*	Eda*	4 models	Alliance of Genome Resources
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	TP63*	Trp63*	4 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
epidermolysis bullosa simplex with muscular dystrophy	PLEC*	Plec*	2 models	Alliance of Genome Resources
fetal encasement syndrome	CHUK*	Chuk*	3 models	Alliance of Genome Resources
focal dermal hypoplasia	PORCN*	Porcn*	14 models	Alliance of Genome Resources
fragile X syndrome	FMR1*	Fmr1*	10 models	Alliance of Genome Resources
frontonasal dysplasia 3	ALX1*	Alx1*	1 model	Alliance of Genome Resources
Goldberg-Shprintzen syndrome	KIFBP*	Kifbp*	2 models	Alliance of Genome Resources
hand-foot-genital syndrome	HOXA13*	Hoxa13*	5 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
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
IGSF1 deficiency syndrome	IGSF1*	Igsf1*	1 model	Alliance of Genome Resources
immunodeficiency-centromeric instability-facial anomalies syndrome 1	DNMT3B*	Dnmt3b*	7 models	Alliance of Genome Resources
infantile hypophosphatasia	ALPL*	Alpl*	3 models	Alliance of Genome Resources
Johanson-Blizzard syndrome	UBR1*	Ubr1*	1 model	Alliance of Genome Resources
Joubert syndrome 17	CPLANE1*	Cplane1*	1 model	Alliance of Genome Resources
Joubert syndrome 26	KATNIP*	Katnip*	1 model	Alliance of Genome Resources
Joubert syndrome 3	AHI1*	Ahi1*	1 model	Alliance of Genome Resources
Joubert syndrome 33	PIBF1*	Pibf1*	1 model	Alliance of Genome Resources
Joubert syndrome 5	CEP290*	Cep290*	2 models	Alliance of Genome Resources
Joubert syndrome 6	TMEM67*	Tmem67*	1 model	Alliance of Genome Resources
Joubert syndrome 7	RPGRIP1L*	Rpgrip1l*	1 model	Alliance of Genome Resources
Kabuki syndrome	KMT2D*	Kmt2d*	3 models	Alliance of Genome Resources
Kartagener syndrome	DNAH11*	Dnah11*	2 models	Alliance of Genome Resources
Kartagener syndrome	DNAH5*	Dnah5*	12 models	Alliance of Genome Resources
Kartagener syndrome	DNAI1*	Dnai1*	1 model	Alliance of Genome Resources
KBG syndrome	ANKRD11*	Ankrd11*	2 models	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
Laron syndrome	GHR*	Ghr*	2 models	Alliance of Genome Resources
Li-Fraumeni syndrome	TP53*	Trp53*	8 models	Alliance of Genome Resources
Lynch syndrome	MLH1*	Mlh1*	2 models	Alliance of Genome Resources
Lynch syndrome	MSH2*	Msh2*	5 models	Alliance of Genome Resources
macrocephaly-autism syndrome	PTEN*	Pten*	2 models	Alliance of Genome Resources
mandibulofacial dysostosis with alopecia	EDNRA*	Ednra*	2 models	Alliance of Genome Resources
Marsili syndrome	ZFHX2*	Zfhx2*	2 models	Alliance of Genome Resources
Meckel syndrome	B9D1*	B9d1*	1 model	Alliance of Genome Resources
megacystis-microcolon-intestinal hypoperistalsis syndrome	ACTG2*	Actg2*	1 model	Alliance of Genome Resources
megacystis-microcolon-intestinal hypoperistalsis syndrome	LMOD1*	Lmod1*	1 model	Alliance of Genome Resources
microphthalmia with limb anomalies	SMOC1*	Smoc1*	2 models	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
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
nail-patella syndrome	LMX1B*	Lmx1b*	4 models	Alliance of Genome Resources
Nance-Horan syndrome	NHS*	Nhs*	3 models	Alliance of Genome Resources
Nasu-Hakola disease	TYROBP*	Tyrobp*	2 models	Alliance of Genome Resources
neurofibromatosis 1	NF1*	Nf1*	17 models	Alliance of Genome Resources
nevoid basal cell carcinoma syndrome	PTCH1*	Ptch1*	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
Norrie disease	NDP*	Ndp*	2 models	Alliance of Genome Resources
oculoauricular syndrome	HMX1*	Hmx1*	2 models	Alliance of Genome Resources
oculocutaneous albinism	TYR*	Tyr*	2 models	Alliance of Genome Resources
oculodentodigital dysplasia	GJA1*	Gja1*	5 models	Alliance of Genome Resources
Opitz GBBB syndrome	MID1*	Mid1*	1 model	Alliance of Genome Resources
orofaciodigital syndrome I	OFD1*	Ofd1*	2 models	Alliance of Genome Resources
osteoporosis-pseudoglioma syndrome	LRP5*	Lrp5*	3 models	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
PCWH syndrome	SOX10*	Sox10*	1 model	Alliance of Genome Resources
Pendred Syndrome	SLC26A4*	Slc26a4*	4 models	Alliance of Genome Resources
Perlman syndrome	DIS3L2*	Dis3l2*	2 models	Alliance of Genome Resources
Perrault syndrome	CLPP*	Clpp*	2 models	Alliance of Genome Resources
Peters plus syndrome	B3GLCT*	B3glct*	2 models	Alliance of Genome Resources
PHARC syndrome	ABHD12*	Abhd12*	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
popliteal pterygium syndrome	IRF6*	Irf6*	2 models	Alliance of Genome Resources
Prader-Willi syndrome	NDN*	Ndn*	8 models	Alliance of Genome Resources
Prader-Willi syndrome	SNRPN*, SNURF	Snrpn*, Snurf	4 models	Alliance of Genome Resources
primary ciliary dyskinesia	DAW1*	Daw1*	2 models	Alliance of Genome Resources
primary ciliary dyskinesia 1	DNAI1*	Dnai1*	3 models	Alliance of Genome Resources
primary ciliary dyskinesia 10	DNAAF2*	Dnaaf2*	2 models	Alliance of Genome Resources
primary ciliary dyskinesia 14	CCDC39*	Ccdc39*	3 models	Alliance of Genome Resources
primary ciliary dyskinesia 19	DNAAF11*	Dnaaf11*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia 2	DNAAF3*	Dnaaf3*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia 21	DRC1*	Drc1*	2 models	Alliance of Genome Resources
primary ciliary dyskinesia 22	ZMYND10*	Zmynd10*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia 23	ODAD2*	Odad2*	2 models	Alliance of Genome Resources
primary ciliary dyskinesia 25	DNAAF4*	Dnaaf4*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia 3	DNAH5*	Dnah5*	14 models	Alliance of Genome Resources
primary ciliary dyskinesia 30	ODAD3*	Odad3*	2 models	Alliance of Genome Resources
primary ciliary dyskinesia 33	DRC4*	Gas8*	2 models	Alliance of Genome Resources
primary ciliary dyskinesia 35	ODAD4*	Odad4*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia 7	DNAH11*	Dnah11*	8 models	Alliance of Genome Resources
progeria	LMNA*	Lmna*	14 models	Alliance of Genome Resources
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	FLVCR2*	Flvcr2*	1 model	Alliance of Genome Resources
Proteus syndrome	AKT1*	Akt1*	2 models	Alliance of Genome Resources
renal coloboma syndrome	PAX2*	Pax2*	6 models	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
Rubinstein-Taybi syndrome	CREBBP*	Crebbp*	4 models	Alliance of Genome Resources
scalp-ear-nipple syndrome	KCTD1*	Kctd1*	2 models	Alliance of Genome Resources
Schwartz-Jampel syndrome 1	HSPG2*	Hspg2*	6 models	Alliance of Genome Resources
septooptic dysplasia	HESX1*	Hesx1*	3 models	Alliance of Genome Resources
SHORT syndrome	PIK3R1*	Pik3r1*	1 model	Alliance of Genome Resources
Shwachman-Diamond syndrome	SBDS*	Sbds*	3 models	Alliance of Genome Resources
Simpson-Golabi-Behmel syndrome type 1	GPC3*	Gpc3*	8 models	Alliance of Genome Resources
Sotos syndrome 2	NFIX*	Nfix*	1 model	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
Tietz syndrome	MITF*	Mitf*	14 models	Alliance of Genome Resources
Timothy syndrome	CACNA1C*	Cacna1c*	1 model	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
tuberous sclerosis	TSC1*	Tsc1*	10 models	Alliance of Genome Resources
tuberous sclerosis	TSC2*	Tsc2*	9 models	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
Van der Woude syndrome	IRF6*	Irf6*	1 model	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
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	FBN1*	Fbn1*	2 models	Alliance of Genome Resources
Weill-Marchesani syndrome	ADAMTS10*	Adamts10*	2 models	Alliance of Genome Resources
Weill-Marchesani syndrome	ADAMTS17*	Adamts17*	1 model	Alliance of Genome Resources
Werner syndrome	WRN*	Wrn*	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	EIF4H*	Eif4h*	3 models	Alliance of Genome Resources
Wiskott-Aldrich syndrome	WAS*	Was*	2 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
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
X-linked Alport syndrome	COL4A5*	Col4a5*	3 models	Alliance of Genome Resources
X-linked cleft palate with or without ankyloglossia	TBX22*	Tbx22*	2 models	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	PPARG	Pparg*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	PRKCI	Prkci*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	SIRT3	Sirt3*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	ACSM3	Acsm3*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	SLC2A9	Slc2a9*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	CTF1	Ctf1*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	GUCY2C	Gucy2c*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	LEP	Lep*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome	NEIL1	Neil1*	1 model	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome 1	LEP	Lep*	3 models	Alliance of Genome Resources
			abdominal obesity-metabolic syndrome 1	TP53INP1	Trp53inp1*	1 model	Alliance of Genome Resources
			Angelman syndrome	SNRPN, SNURF	Snrpn*, Snurf	1 model	Alliance of Genome Resources
			ARC syndrome	VPS33B	Vps33b*	1 model	Alliance of Genome Resources
			ARC syndrome	VIPAS39	Vipas39*	1 model	Alliance of Genome Resources
			autosomal recessive Alport syndrome	MPV17	Mpv17*	1 model	Alliance of Genome Resources
			autosomal recessive Robinow syndrome	PRICKLE1	Prickle1*	2 models	Alliance of Genome Resources
			Bardet-Biedl syndrome	TBC1D32	Tbc1d32*	1 model	Alliance of Genome Resources
			Beckwith-Wiedemann syndrome	SPTBN1	Sptbn1*	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
			Bruck syndrome	PLOD2	Plod2*	1 model	Alliance of Genome Resources
			cardiofaciocutaneous syndrome	MAP2K1	Map2k1*	1 model	Alliance of Genome Resources
			Caroli syndrome	PKHD1	Pkhd1*	1 model	Alliance of Genome Resources
			cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome	ATP8A2	Atp8a2*	4 models	Alliance of Genome Resources
			cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome	CA8	Car8*	1 model	Alliance of Genome Resources
			CHARGE syndrome	CHD2	Chd2*	1 model	Alliance of Genome Resources
			CHARGE syndrome	TP53	Trp53*	1 model	Alliance of Genome Resources
			chromosome 1q41-q42 deletion syndrome	TP53BP2	Trp53bp2*	3 models	Alliance of Genome Resources
			ciliopathy	KIF7	Kif7*	1 model	Alliance of Genome Resources
			ciliopathy	WDR11	Wdr11*	1 model	Alliance of Genome Resources
			ciliopathy	SPRY2	Spry2*	3 models	Alliance of Genome Resources
			ciliopathy	SCLT1	Sclt1*	1 model	Alliance of Genome Resources
			ciliopathy	WDR19	Wdr19*	1 model	Alliance of Genome Resources
			cleft palate	SPECC1L	Specc1l*	2 models	Alliance of Genome Resources
			cleft palate	SIX2	Six2*	1 model	Alliance of Genome Resources
			cleft palate	PRMT1	Prmt1*	1 model	Alliance of Genome Resources
			cleft palate	GOLGB1	Golgb1*	5 models	Alliance of Genome Resources
			cleft palate	CDC42	Cdc42*	1 model	Alliance of Genome Resources
			cleft palate		b2b1594Clo*	1 model
			cleft palate		b2b1470Clo*	1 model
			cleft soft palate	TGFBR2	Tgfbr2*	1 model	Alliance of Genome Resources
			Coffin-Siris syndrome	ARID1A	Arid1a*	2 models	Alliance of Genome Resources
			Cornelia de Lange syndrome	PDS5A	Pds5a*	1 model	Alliance of Genome Resources
			Cowden syndrome	PTEN	Pten*	12 models	Alliance of Genome Resources
			craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	TMCO1	Tmco1*	1 model	Alliance of Genome Resources
			cystic fibrosis	SCNN1B	Scnn1b*	1 model	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
			DiGeorge syndrome	DOCK1	Dock1*	1 model	Alliance of Genome Resources
			DiGeorge syndrome	DICER1	Dicer1*	1 model	Alliance of Genome Resources
			DiGeorge syndrome	CRKL	Crkl*	1 model	Alliance of Genome Resources
			DiGeorge syndrome	CHRD	Chrd*	1 model	Alliance of Genome Resources
			DiGeorge syndrome		b2b2696Clo*	1 model
			DiGeorge syndrome		b2b1941Clo*	1 model
			DiGeorge syndrome		b2b954Clo*	1 model
			DiGeorge syndrome	ALDH1A2	Aldh1a2*	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
EEC syndrome	ARHGAP29	Arhgap29*	1 model	Alliance of Genome Resources
Fanconi-like syndrome	SLX4	Slx4*	1 model	Alliance of Genome Resources
Fanconi-like syndrome	SLX1A, SLX1B	Slx1b*	1 model	Alliance of Genome Resources
Fraser syndrome	FREM2	Frem2*	5 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	GRIP1	Grip1*	2 models	Alliance of Genome Resources
Goldenhar syndrome	FOXI3	Foxi3*	1 model	Alliance of Genome Resources
Goldenhar syndrome		Hfm*	1 model
Goldenhar syndrome	ZIC3	Zic3*	2 models	Alliance of Genome Resources
Hermansky-Pudlak syndrome	SLC7A11	Slc7a11*	1 model	Alliance of Genome Resources
Hermansky-Pudlak syndrome	BLOC1S4	Bloc1s4*	2 models	Alliance of Genome Resources
Hermansky-Pudlak syndrome	VPS33A	Vps33a*	1 model	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 1	AP3D1	Ap3d1*	1 model	Alliance of Genome Resources
Hermansky-Pudlak syndrome 1	RAB27A	Rab27a*	1 model	Alliance of Genome Resources
Hermansky-Pudlak syndrome 2	AP3D1	Ap3d1*	1 model	Alliance of Genome Resources
holoprosencephaly	PIGN	Pign*	1 model	Alliance of Genome Resources
holoprosencephaly	PGAP1	Pgap1*	1 model	Alliance of Genome Resources
holoprosencephaly	NOSIP	Nosip*	1 model	Alliance of Genome Resources
Holt-Oram syndrome		vsd*	2 models
hydrolethalus syndrome	KIF7	Kif7*	1 model	Alliance of Genome Resources
hypohidrotic ectodermal dysplasia	EDA	Eda*	3 models	Alliance of Genome Resources
hypohidrotic ectodermal dysplasia	EDAR	Edar*	3 models	Alliance of Genome Resources
hypohidrotic ectodermal dysplasia	TRAF6	Traf6*	1 model	Alliance of Genome Resources
hypotonia-cystinuria syndrome	CAMKMT	Camkmt*	2 models	Alliance of Genome Resources
inclusion body myopathy with Paget disease of bone and frontotemporal dementia	VCP	Vcp*	2 models	Alliance of Genome Resources
isolated cleft palate	SATB2	Satb2*	1 model	Alliance of Genome Resources
Joubert syndrome	ZIC1	Zic1*	1 model	Alliance of Genome Resources
Kartagener syndrome	AP1B1	Ap1b1*	1 model	Alliance of Genome Resources
Kartagener syndrome		b2b1200Clo*	1 model
Kartagener syndrome		b2b1519Clo*	1 model
Kartagener syndrome		b2b1700Clo*	1 model
Kartagener syndrome		b2b2350Clo*	1 model
Kartagener syndrome	CCDC39	Ccdc39*	2 models	Alliance of Genome Resources
Kartagener syndrome	CIROZ	Ciroz*	1 model	Alliance of Genome Resources
Kartagener syndrome	DAW1	Daw1*	2 models	Alliance of Genome Resources
Kartagener syndrome	DNAAF3	Dnaaf3*	1 model	Alliance of Genome Resources
Kartagener syndrome	DNAI2	Dnai2*	1 model	Alliance of Genome Resources
Kartagener syndrome	SLIT2	Slit2*	1 model	Alliance of Genome Resources
Kartagener syndrome	ODAD3	Odad3*	1 model	Alliance of Genome Resources
Kartagener syndrome	ODAD2	Odad2*	1 model	Alliance of Genome Resources
Kartagener syndrome	FOXJ1	Foxj1*	2 models	Alliance of Genome Resources
Kartagener syndrome	DRC1	Drc1*	2 models	Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 1	FGF10	Fgf10*	1 model	Alliance of Genome Resources
Leber plus disease	PRICKLE3	Prickle3*	2 models	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
Loeys-Dietz syndrome	TGFBR1	Tgfbr1*	1 model	Alliance of Genome Resources
Meckel syndrome	CC2D2A	Cc2d2a*	1 model	Alliance of Genome Resources
Meckel syndrome	RPGRIP1L	Rpgrip1l*	1 model	Alliance of Genome Resources
Meckel syndrome	TBC1D32	Tbc1d32*	1 model	Alliance of Genome Resources
Meckel syndrome	TMEM67	Tmem67*	2 models	Alliance of Genome Resources
Meckel syndrome	MKS1	Mks1*	3 models	Alliance of Genome Resources
Meckel syndrome	CEP55	Cep55*	1 model	Alliance of Genome Resources
megacystis-microcolon-intestinal hypoperistalsis syndrome	CHRM3	Chrm3*	1 model	Alliance of Genome Resources
Meier-Gorlin syndrome	BMP5	Bmp5*	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	MNT	Mnt*	1 model	Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome	PAFAH1B1	Pafah1b1*	5 models	Alliance of Genome Resources
Muir-Torre syndrome	FHIT	Fhit*	1 model	Alliance of Genome Resources
nail-patella syndrome	LDB1	Ldb1*	1 model	Alliance of Genome Resources
nevoid basal cell carcinoma syndrome	SHH	Shh*	1 model	Alliance of Genome Resources
nevoid basal cell carcinoma syndrome	SUFU	Sufu*	1 model	Alliance of Genome Resources
Noonan syndrome	APAF1	Apaf1*	1 model	Alliance of Genome Resources
Noonan syndrome	KAT6B	Kat6b*	1 model	Alliance of Genome Resources
Noonan syndrome with multiple lentigines	PTPN11	Ptpn11*	3 models	Alliance of Genome Resources
Norrie disease	FZD4	Fzd4*	1 model	Alliance of Genome Resources
oculocutaneous albinism	OCA2	Oca2*	1 model	Alliance of Genome Resources
oculocutaneous albinism	SLC45A2	Slc45a2*	7 models	Alliance of Genome Resources
orofacial cleft	TFAP2A	Tfap2a*	1 model	Alliance of Genome Resources
orofacial cleft	MSX1	Msx1*	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
photosensitive trichothiodystrophy	ERCC2	Ercc2*	3 models	Alliance of Genome Resources
Pierson syndrome	TNS2	Tns2*	1 model	Alliance of Genome Resources
popliteal pterygium syndrome	RIPK4	Ripk4*	1 model	Alliance of Genome Resources
Prader-Willi syndrome	MAGEL2	Magel2*	3 models	Alliance of Genome Resources
Prader-Willi syndrome	HTR2C	Htr2c*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia		b2b1200Clo*	1 model
primary ciliary dyskinesia		b2b1700Clo*	1 model
primary ciliary dyskinesia	SLIT2	Slit2*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia	SPEF2	Spef2*	2 models	Alliance of Genome Resources
primary ciliary dyskinesia	TTLL1	Ttll1*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia	DPCD	Dpcd*	2 models	Alliance of Genome Resources
primary ciliary dyskinesia	FOXJ1	Foxj1*	3 models	Alliance of Genome Resources
primary ciliary dyskinesia	DNAI2	Dnai2*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia	DNAH5	Dnah5*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia	DNAAF5	Dnaaf5*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia	GAS2L2	Gas2l2*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia	CIROZ	Ciroz*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia	CBY1	Cby1*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia	AP1B1	Ap1b1*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia		b2b2350Clo*	1 model
primary ciliary dyskinesia		b2b227Clo*	1 model
primary ciliary dyskinesia	PCSK5	Pcsk5*	1 model	Alliance of Genome Resources
primary ciliary dyskinesia		b2b1146Clo*	1 model
primary ciliary dyskinesia		b2b2059Clo*	1 model
primary ciliary dyskinesia		b2b1929Clo*	1 model
primary ciliary dyskinesia 14		b2b2025Clo*	1 model
progeria	SIRT6	Sirt6*	1 model	Alliance of Genome Resources
progeria	VCPIP1	Vcpip1*	1 model	Alliance of Genome Resources
progeria	ZMPSTE24	Zmpste24*	3 models	Alliance of Genome Resources
RASopathy	RREB1	Rreb1*	1 model	Alliance of Genome Resources
Reye syndrome	TXNIP	Txnip*	1 model	Alliance of Genome Resources
Robinow syndrome		b2b3077Clo*	1 model
Robinow syndrome	WNT5A	Wnt5a*	1 model	Alliance of Genome Resources
Robinow syndrome	DNAAF4	Dnaaf4*	1 model	Alliance of Genome Resources
Seckel syndrome	ATR	Atr*	1 model	Alliance of Genome Resources
Seckel syndrome	ATRIP	Atrip*	1 model	Alliance of Genome Resources
Seckel syndrome	CEP63	Cep63*	1 model	Alliance of Genome Resources
Seckel syndrome	CPAP	Cpap*	1 model	Alliance of Genome Resources
Senior-Loken syndrome	TMEM218	Tmem218*	1 model	Alliance of Genome Resources
Shwachman-Diamond syndrome	SERPINI2	Serpini2*	1 model	Alliance of Genome Resources
Stickler syndrome	COL11A2	Col11a2*	1 model	Alliance of Genome Resources
Stickler syndrome	COL11A1	Col11a1*	1 model	Alliance of Genome Resources
sudden infant death syndrome	SLC6A4	Slc6a4*	1 model	Alliance of Genome Resources
sudden infant death syndrome	VHL	Vhl*	1 model	Alliance of Genome Resources
syndrome	SLC10A7	Slc10a7*	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
VACTERL association	CPLANE2	Cplane2*	1 model	Alliance of Genome Resources
VACTERL association	DYNC2H1	Dync2h1*	1 model	Alliance of Genome Resources
VACTERL association	IFT172	Ift172*	1 model	Alliance of Genome Resources
VACTERL association	PCSK5	Pcsk5*	2 models	Alliance of Genome Resources
VACTERL association	TBC1D32	Tbc1d32*	1 model	Alliance of Genome Resources
VACTERL association	QSOX1	Qsox1*	1 model	Alliance of Genome Resources
Van der Woude syndrome	GRHL3	Grhl3*	1 model	Alliance of Genome Resources
Waardenburg syndrome	AEBP2	Aebp2*	1 model	Alliance of Genome Resources
Waardenburg syndrome	SNAI2	Snai2*	1 model	Alliance of Genome Resources
Waardenburg syndrome type 1	MITF	Mitf*	1 model	Alliance of Genome Resources
Williams-Beuren syndrome	DLG4	Dlg4*	1 model	Alliance of Genome Resources
Williams-Beuren syndrome	BAZ1B	Baz1b*	6 models	Alliance of Genome Resources
Williams-Beuren syndrome	CLIP2	Clip2*	3 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	LIMK1	Limk1*	3 models	Alliance of Genome Resources
Williams-Beuren syndrome	GTF2IRD1	Gtf2ird1*	6 models	Alliance of Genome Resources
Williams-Beuren syndrome	GTF2I	Gtf2i*	4 models	Alliance of Genome Resources
Williams-Beuren syndrome		b2b370Clo*	1 model
Williams-Beuren syndrome	FZD9	Fzd9*	4 models	Alliance of Genome Resources
Wiskott-Aldrich syndrome	FOXP3	Foxp3*	1 model	Alliance of Genome Resources
Wiskott-Aldrich syndrome	WASHC4	Washc4*	1 model	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
X-linked chondrodysplasia punctata 1	NSDHL	Nsdhl*	1 model	Alliance of Genome Resources
X-linked chondrodysplasia punctata 1	EBP	Ebp*	1 model	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-M syndrome	OBSL1*	Obsl1		Alliance of Genome Resources
			3-M syndrome	CUL7*	Cul7		Alliance of Genome Resources
			3-M syndrome	CCDC8*	Ccdc8		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
			ablepharon macrostomia syndrome	TWIST2*	Twist2		Alliance of Genome Resources
			Abruzzo-Erickson syndrome	TBX22*	Tbx22		Alliance of Genome Resources
			Adams-Oliver syndrome	RBPJ*	Rbpj		Alliance of Genome Resources
			Adams-Oliver syndrome	NOTCH1*	Notch1		Alliance of Genome Resources
			Adams-Oliver syndrome	EOGT*	Eogt		Alliance of Genome Resources
			Adams-Oliver syndrome	DOCK6*	Dock6		Alliance of Genome Resources
			Adams-Oliver syndrome	ARHGAP31*	Arhgap31		Alliance of Genome Resources
			ADULT syndrome	TP63*	Trp63		Alliance of Genome Resources
			agenesis of corpus callosum, cardiac, ocular, and genital syndrome	CDH2*	Cdh2		Alliance of Genome Resources
			Aicardi-Goutieres syndrome	LSM11*	Lsm11		Alliance of Genome Resources
			Aicardi-Goutieres syndrome	RNASEH2B*	Rnaseh2b		Alliance of Genome Resources
			Aicardi-Goutieres syndrome	RNASEH2C*	Rnaseh2c		Alliance of Genome Resources
			Aicardi-Goutieres syndrome	RNU7-1*
			Aicardi-Goutieres syndrome	RNASEH2A*	Rnaseh2a		Alliance of Genome Resources
			Aicardi-Goutieres syndrome	SAMHD1*	Samhd1		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
			alpha-thalassemia myelodysplasia syndrome	ATRX*	Atrx		Alliance of Genome Resources
			Alport syndrome	HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5	H2-Eb1, H2-Eb2		Alliance of Genome Resources
			Alport syndrome	COL4A3*	Col4a3		Alliance of Genome Resources
			Alport syndrome	COL4A5*	Col4a5		Alliance of Genome Resources
			AMED syndrome	ADH5*	Adh5		Alliance of Genome Resources
			Antley-Bixler syndrome with disordered steroidogenesis	POR*	Por		Alliance of Genome Resources
			aplasia of lacrimal and salivary glands	FGF10*	Fgf10		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
			autosomal dominant Alport syndrome	COL4A3*	Col4a3		Alliance of Genome Resources
			autosomal dominant Alport syndrome	MYH9*	Myh9		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 Wolfram syndrome	WFS1*	Wfs1		Alliance of Genome Resources
			autosomal recessive Robinow syndrome 2	NXN*	Nxn		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
			Barber-Say syndrome	TWIST2*	Twist2		Alliance of Genome Resources
			Bardet-Biedl syndrome	NPHP1*	Nphp1		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	TMEM67*	Tmem67		Alliance of Genome Resources
			Bardet-Biedl syndrome	BBS7*	Bbs7		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	ARL6*	Arl6		Alliance of Genome Resources
			Bardet-Biedl syndrome	BBS1*	Bbs1		Alliance of Genome Resources
			Bardet-Biedl syndrome	BBS2*	Bbs2		Alliance of Genome Resources
			Bardet-Biedl syndrome	BBS5*	Bbs5		Alliance of Genome Resources
Bardet-Biedl syndrome 1	ARL6*	Arl6		Alliance of Genome Resources
Bardet-Biedl syndrome 1	CCDC28B*	Ccdc28b		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
BASAN syndrome	SMARCAD1*	Smarcad1		Alliance of Genome Resources
Beckwith-Wiedemann syndrome	KCNQ1OT1*	Kcnq1ot1		Alliance of Genome Resources
Birk-Barel syndrome	KCNK9*	Kcnk9		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
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
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
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
Burn-McKeown syndrome	TXNL4A*, NAA11	Naa11, Txnl4a		Alliance of Genome Resources
Buschke-Ollendorff syndrome	LEMD3*	Lemd3		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
cardiofaciocutaneous syndrome	KRAS*	Kras		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
cartilage-hair hypoplasia	RMRP*	Rmrp		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 atrophy, visual impairment, and psychomotor retardation	EMC1*	Emc1		Alliance of Genome Resources
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay	OXR1*	Oxr1		Alliance of Genome Resources
cerebellofaciodental syndrome	BRF1*	Brf1		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
CHILD syndrome	NSDHL*	Nsdhl		Alliance of Genome Resources
CHIME syndrome	PIGL*	Pigl		Alliance of Genome Resources
chondrodysplasia punctata	EBP*	Ebp		Alliance of Genome Resources
chondrodysplasia punctata	ARSL*
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	HDAC6*	Hdac6		Alliance of Genome Resources
chronic atrial and intestinal dysrhythmia	SGO1*	Sgo1		Alliance of Genome Resources
chronic fatigue syndrome	DISC1*	Disc1		Alliance of Genome Resources
chronic fatigue syndrome	TRPC6*	Trpc6		Alliance of Genome Resources
chronic fatigue syndrome	SLC6A4*	Slc6a4		Alliance of Genome Resources
chronic fatigue syndrome	KIR3DS1*, KIR2DL1, KIR2DL2, KIR2DL3, KIR2DL4, KIR2DL5A, KIR2DL5B, KIR2DP1, KIR2DS1, KIR2DS2, KIR2DS3, KIR2DS4, KIR2DS5, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DP1	Kir3dl1, Kir3dl2		Alliance of Genome Resources
chronic fatigue syndrome	HLA-DQA1*, HLA-DQA2	H2-Aa		Alliance of Genome Resources
cleft lip	CDH1*	Cdh1		Alliance of Genome Resources
cleft lip	SLC19A1*	Slc19a1		Alliance of Genome Resources
cleft lip	SDC2*	Sdc2		Alliance of Genome Resources
cleft lip	POMT1*	Pomt1		Alliance of Genome Resources
cleft lip	NOG*	Nog		Alliance of Genome Resources
cleft lip	NECTIN1*	Nectin1		Alliance of Genome Resources
cleft lip	MTHFR*	Mthfr		Alliance of Genome Resources
cleft lip	MTHFD1*	Mthfd1		Alliance of Genome Resources
cleft lip	MSX1*	Msx1		Alliance of Genome Resources
cleft lip	KIF7*	Kif7		Alliance of Genome Resources
cleft lip	GDF6*	Gdf6		Alliance of Genome Resources
cleft lip	FGFR1*	Fgfr1		Alliance of Genome Resources
cleft lip	FGF1*	Fgf1		Alliance of Genome Resources
cleft lip	BMP4*	Bmp4		Alliance of Genome Resources
cleft lip-palate-ectodermal dysplasia syndrome	NECTIN1*	Nectin1	3 "NOT" models	Alliance of Genome Resources
cleft palate	TBX22*	Tbx22		Alliance of Genome Resources
cleft palate	SDC2*	Sdc2		Alliance of Genome Resources
cleft palate	ROR2*	Ror2		Alliance of Genome Resources
cleft palate	NECTIN1*	Nectin1		Alliance of Genome Resources
cleft palate	MTHFD1*	Mthfd1		Alliance of Genome Resources
cleft palate	MSX1*	Msx1		Alliance of Genome Resources
cleft palate	MEIS2*	Meis2		Alliance of Genome Resources
cleft palate	IRF6*	Irf6		Alliance of Genome Resources
cleft palate	GDF6*	Gdf6		Alliance of Genome Resources
cleft palate	FLNB*	Flnb		Alliance of Genome Resources
cleft palate	COL11A2*	Col11a2		Alliance of Genome Resources
cleft palate	COL2A1*	Col2a1		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
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 heart defects, hamartomas of tongue, and polysyndactyly	WDPCP*	Wdpcp		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
contractures, pterygia, and spondylocarpotarsal fusion syndrome	CHRNG*	Chrng		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	NIPBL*	Nipbl		Alliance of Genome Resources
Cornelia de Lange syndrome 2	SMC1A*	Smc1a		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
corpus callosum agenesis-abnormal genitalia syndrome	ARX*	Arx		Alliance of Genome Resources
Cowden syndrome 4	KLLN*
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
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	RAB5IF*	Rab5if		Alliance of Genome Resources
craniolenticulosutural dysplasia	SEC23A*	Sec23a		Alliance of Genome Resources
CREST syndrome	FBN1*	Fbn1		Alliance of Genome Resources
CREST syndrome	CENPC*	Cenpc1		Alliance of Genome Resources
Crouzon syndrome-acanthosis nigricans syndrome	FGFR3*	Fgfr3		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	MPO*	Mpo		Alliance of Genome Resources
cystic fibrosis	ADRB2*	Adrb2		Alliance of Genome Resources
cystic fibrosis	NOS1*	Nos1		Alliance of Genome Resources
cystic fibrosis	NOS3*	Nos3		Alliance of Genome Resources
cystic fibrosis	PTGS2*	Ptgs2		Alliance of Genome Resources
cystic fibrosis	PTX3*	Ptx3		Alliance of Genome Resources
cystic fibrosis	SERPINA3*	Serpina3a, Serpina3b, Serpina3c, Serpina3f, Serpina3g, Serpina3i, Serpina3j, Serpina3k, Serpina3m, Serpina3n		Alliance of Genome Resources
cystic fibrosis	TGFB1*	Tgfb1		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	AGER*	Ager		Alliance of Genome Resources
cystic fibrosis	GSTM3*	Gstm5		Alliance of Genome Resources
cystic fibrosis	GSTT1*	Gstt1		Alliance of Genome Resources
cystic fibrosis	HFE*	Hfe		Alliance of Genome Resources
cystic fibrosis	HSPA1A*	Hspa1a		Alliance of Genome Resources
cystic fibrosis	IL1B*	Il1b		Alliance of Genome Resources
cystic fibrosis	LTA*	Lta		Alliance of Genome Resources
cystic fibrosis	MBL2*	Mbl2		Alliance of Genome Resources
cystic fibrosis	MIF*	Mif		Alliance of Genome Resources
cystic fibrosis	TLR5*	Tlr5		Alliance of Genome Resources
cystic fibrosis	TLR9*	Tlr9		Alliance of Genome Resources
cystic fibrosis	TNF*	Tnf		Alliance of Genome Resources
deafness, dystonia, and cerebral hypomyelination	BCAP31*	Bcap31		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
DICER1 syndrome	DICER1*	Dicer1		Alliance of Genome Resources
DiGeorge syndrome	ARVCF*	Arvcf	2 models	Alliance of Genome Resources
DiGeorge syndrome	DVL1*, DVL1P1*	Dvl1		Alliance of Genome Resources
DiGeorge syndrome	UFD1*	Ufd1	2 models	Alliance of Genome Resources
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	LMNA*	Lmna		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
dysplastic nevus syndrome	CDKN2A*, CDKN2B	Cdkn2a, Cdkn2b	1 "NOT" model	Alliance of Genome Resources
ectodermal dysplasia	PKP1*	Pkp1		Alliance of Genome Resources
ectodermal dysplasia	NECTIN1*	Nectin1		Alliance of Genome Resources
ectodermal dysplasia	GJB6*	Gjb6		Alliance of Genome Resources
ectodermal dysplasia	WNT10A*	Wnt10a		Alliance of Genome Resources
ectodermal dysplasia	TP63*	Trp63		Alliance of Genome Resources
ectodermal dysplasia	KRT16*	Krt16		Alliance of Genome Resources
ectodermal dysplasia	KRT17*	Krt17		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 1	IKBKG*	Ikbkg		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
EEC syndrome	TP63*	Trp63		Alliance of Genome Resources
Ellis-Van Creveld syndrome	WDR35*	Wdr35		Alliance of Genome Resources
Elsahy-Waters syndrome	CDH11*	Cdh11		Alliance of Genome Resources
encephalopathy due to defective mitochondrial and peroxisomal fission 1	DNM1L*	Dnm1l		Alliance of Genome Resources
encephalopathy due to defective mitochondrial and peroxisomal fission 2	MFF*	Mff		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
FG syndrome	CASK*	Cask		Alliance of Genome Resources
FG syndrome	MED12*	Med12		Alliance of Genome Resources
fibromyalgia	COMT*	Comt		Alliance of Genome Resources
Filippi syndrome	CKAP2L*	Ckap2l		Alliance of Genome Resources
Floating-Harbor syndrome	SRCAP*	Srcap		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
frontonasal dysplasia 1	ALX3*	Alx3		Alliance of Genome Resources
frontonasal dysplasia 2	ALX4*	Alx4		Alliance of Genome Resources
Galloway-Mowat syndrome	GON7*	Gon7		Alliance of Genome Resources
Galloway-Mowat syndrome	NUP107*	Nup107		Alliance of Genome Resources
Galloway-Mowat syndrome	NUP133*	Nup133		Alliance of Genome Resources
Galloway-Mowat syndrome	WDR4*	Wdr4		Alliance of Genome Resources
Galloway-Mowat syndrome	YRDC*	Yrdc		Alliance of Genome Resources
Galloway-Mowat syndrome 1	WDR73*	Wdr73		Alliance of Genome Resources
Galloway-Mowat syndrome 2	LAGE3*	Lage3		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
Galloway-Mowat syndrome 5	TPRKB*	Tprkb		Alliance of Genome Resources
Gamstorp-Wohlfart syndrome	HINT1*	Hint1		Alliance of Genome Resources
GAPO syndrome	ANTXR1*	Antxr1		Alliance of Genome Resources
geroderma osteodysplasticum	GORAB*	Gorab		Alliance of Genome Resources
Ghosal hematodiaphyseal syndrome	TBXAS1*	Tbxas1		Alliance of Genome Resources
Gillespie syndrome	ITPR1*	Itpr1		Alliance of Genome Resources
Goldenhar syndrome	SF3B2*	Sf3b2		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
Halperin-Birk syndrome	SEC31A*	Sec31a		Alliance of Genome Resources
Harel-Yoon syndrome	ATAD3A*, ATAD3B, ATAD3C	Atad3a		Alliance of Genome Resources
Hengel-Maroofian-Schols syndrome	BCAS3*	Bcas3		Alliance of Genome Resources
hepatic venoocclusive disease with immunodeficiency	SP110*	Sp110		Alliance of Genome Resources
hereditary arterial and articular multiple calcification syndrome	NT5E*	Nt5e		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	RAD51D*	Rad51d		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	BRCA1*	Brca1	3 models	Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	BRCA2*	Brca2		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	PALB2*	Palb2		Alliance of Genome Resources
hereditary breast ovarian cancer syndrome	RAD51C*	Rad51c		Alliance of Genome Resources
hereditary desmoid disease	APC*	Apc		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
Hermansky-Pudlak syndrome	AP3D1*	Ap3d1		Alliance of Genome Resources
Hermansky-Pudlak syndrome	AP3B1*	Ap3b1		Alliance of Genome Resources
Hermansky-Pudlak syndrome	HPS3*	Hps3		Alliance of Genome Resources
Hermansky-Pudlak syndrome	HPS6*	Hps6		Alliance of Genome Resources
Hermansky-Pudlak syndrome	HPS4*	Hps4		Alliance of Genome Resources
Hermansky-Pudlak syndrome	HPS5*	Hps5		Alliance of Genome Resources
histiocytosis-lymphadenopathy plus syndrome	SLC29A3*	Slc29a3		Alliance of Genome Resources
holoprosencephaly	ZIC2*	Zic2		Alliance of Genome Resources
holoprosencephaly	TGIF1*	Tgif1		Alliance of Genome Resources
holoprosencephaly	SIX3*	Six3		Alliance of Genome Resources
holoprosencephaly	SHH*	Shh		Alliance of Genome Resources
holoprosencephaly	PTCH1*	Ptch1		Alliance of Genome Resources
holoprosencephaly	PLCH1*	Plch1		Alliance of Genome Resources
holoprosencephaly 12	CNOT1*	Cnot1		Alliance of Genome Resources
Holoprosencephaly 13, X-linked	STAG2*	Stag2		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
hydrolethalus syndrome 1	HYLS1*	Hyls1		Alliance of Genome Resources
hydrolethalus syndrome 2	KIF7*	Kif7		Alliance of Genome Resources
hyperferritinemia-cataract syndrome	FTL*	Ftl1, Ftl2-ps		Alliance of Genome Resources
hypertension and brachydactyly syndrome	PDE3A*	Pde3a		Alliance of Genome Resources
hypoparathyroidism-retardation-dysmorphism syndrome	TBCE*	Tbce		Alliance of Genome Resources
hypophosphatasia	ALPL*	Alpl		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-lymphedema-telangiectasia-renal defect syndrome	SOX18*	Sox18		Alliance of Genome Resources
hypotrichosis-lymphedema-telangiectasia syndrome	SOX18*	Sox18		Alliance of Genome Resources
ichthyosis follicularis-alopecia-photophobia syndrome 1	MBTPS2*	Mbtps2		Alliance of Genome Resources
IMAGe syndrome	CDKN1C*	Cdkn1c		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
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
inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HNRNPA2B1*	Hnrnpa2b1		Alliance of Genome Resources
infantile liver failure syndrome	TRMU*	Trmu		Alliance of Genome Resources
infantile liver failure syndrome	NBAS*	Nbas		Alliance of Genome Resources
infantile liver failure syndrome	RINT1*	Rint1		Alliance of Genome Resources
infantile liver failure syndrome 1	LARS1*	Lars1		Alliance of Genome Resources
intellectual developmental disorder with cardiac arrhythmia	GNB5*	Gnb5		Alliance of Genome Resources
intellectual developmental disorder with short stature and behavioral abnormalities	IQSEC1*	Iqsec1		Alliance of Genome Resources
intellectual disability and myopathy syndrome	ABCC9*	Abcc9		Alliance of Genome Resources
IVIC syndrome	SALL4*	Sall4		Alliance of Genome Resources
Jackson-Weiss syndrome	FGFR2*	Fgfr2		Alliance of Genome Resources
Jackson-Weiss syndrome	FGFR1*	Fgfr1		Alliance of Genome Resources
Jalili syndrome	CNNM4*	Cnnm4		Alliance of Genome Resources
Joubert syndrome	ARL3*	Arl3		Alliance of Genome Resources
Joubert syndrome	B9D2*	B9d2		Alliance of Genome Resources
Joubert syndrome	KIAA0753*	4933427D14Rik		Alliance of Genome Resources
Joubert syndrome	FAM149B1*	Fam149b		Alliance of Genome Resources
Joubert syndrome	IFT74*	Ift74		Alliance of Genome Resources
Joubert syndrome	INPP5E*	Inpp5e		Alliance of Genome Resources
Joubert syndrome	TMEM216*	Tmem216		Alliance of Genome Resources
Joubert syndrome	TMEM218*	Tmem218		Alliance of Genome Resources
Joubert syndrome	TMEM237*	Tmem237		Alliance of Genome Resources
Joubert syndrome	TOGARAM1*	Togaram1		Alliance of Genome Resources
Joubert syndrome 1	INPP5E*	Inpp5e		Alliance of Genome Resources
Joubert syndrome 10	OFD1*	Ofd1		Alliance of Genome Resources
Joubert syndrome 13	TCTN1*	Tctn1		Alliance of Genome Resources
Joubert syndrome 14	TMEM237*	Tmem237		Alliance of Genome Resources
Joubert syndrome 15	CEP41*	Cep41		Alliance of Genome Resources
Joubert syndrome 16	TMEM138*	Tmem138		Alliance of Genome Resources
Joubert syndrome 18	TCTN3*	Tctn3		Alliance of Genome Resources
Joubert syndrome 2	TMEM216*	Tmem216		Alliance of Genome Resources
Joubert syndrome 20	TMEM231*	Tmem231		Alliance of Genome Resources
Joubert syndrome 21	CSPP1*	Cspp1		Alliance of Genome Resources
Joubert syndrome 22	PDE6D*	Pde6d		Alliance of Genome Resources
Joubert syndrome 23	KIAA0586*	2700049A03Rik		Alliance of Genome Resources
Joubert syndrome 24	TCTN2*	Tctn2		Alliance of Genome Resources
Joubert syndrome 25	CEP104*	Cep104		Alliance of Genome Resources
Joubert syndrome 27	B9D1*	B9d1		Alliance of Genome Resources
Joubert syndrome 28	MKS1*	Mks1		Alliance of Genome Resources
Joubert syndrome 30	ARMC9*	Armc9		Alliance of Genome Resources
Joubert syndrome 31	CEP120*	Cep120		Alliance of Genome Resources
Joubert syndrome 32	SUFU*	Sufu		Alliance of Genome Resources
Joubert syndrome 4	NPHP1*	Nphp1		Alliance of Genome Resources
Joubert syndrome 4	NPHP4*	Nphp4		Alliance of Genome Resources
Joubert syndrome 4	AHI1*	Ahi1		Alliance of Genome Resources
Joubert syndrome 8	ARL13B*	Arl13b		Alliance of Genome Resources
Joubert syndrome 9	CC2D2A*	Cc2d2a		Alliance of Genome Resources
Joubert syndrome with orofaciodigital defect	CPLANE1*	Cplane1		Alliance of Genome Resources
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome	SMAD4*	Smad4		Alliance of Genome Resources
Kabuki syndrome	KDM6A*	Kdm6a		Alliance of Genome Resources
Kahrizi syndrome	SRD5A3*	Srd5a3		Alliance of Genome Resources
Kartagener syndrome	MBL2*	Mbl2		Alliance of Genome Resources
Keipert syndrome	GPC4*	Gpc4		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
Kleefstra syndrome	EHMT1*	Ehmt1		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
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
Legius syndrome	SPRED1*	Spred1		Alliance of Genome Resources
Lenz-Majewski hyperostotic dwarfism	PTDSS1*	Ptdss1		Alliance of Genome Resources
lethal congenital contracture syndrome	ADCY6*	Adcy6		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	GLDN*	Gldn		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	ADGRG6*	Adgrg6		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
Li-Fraumeni syndrome 1	TP53*	Trp53		Alliance of Genome Resources
Li-Fraumeni syndrome 2	CHEK2*	Chek2		Alliance of Genome Resources
linear nevus sebaceous syndrome	NRAS*	Nras		Alliance of Genome Resources
linear nevus sebaceous syndrome	HRAS*	Hras		Alliance of Genome Resources
linear nevus sebaceous syndrome	KRAS*	Kras		Alliance of Genome Resources
linear skin defects with multiple congenital anomalies 1	HCCS*	Hccs		Alliance of Genome Resources
linear skin defects with multiple congenital anomalies 2	COX7B*	Cox7b		Alliance of Genome Resources
linear skin defects with multiple congenital anomalies 3	NDUFB11*	Ndufb11, Ndufb11b		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
lymphedema-distichiasis syndrome	FOXC2*	Foxc2		Alliance of Genome Resources
Lynch syndrome	TGFBR2*	Tgfbr2		Alliance of Genome Resources
Lynch syndrome	E2F4*	E2f4		Alliance of Genome Resources
Lynch syndrome	ASTE1*	Aste1		Alliance of Genome Resources
Lynch syndrome	GSTM1*, GSTM5	Gstm1, Gstm2, Gstm3, Gstm6		Alliance of Genome Resources
Lynch syndrome	TGFBR1*	Tgfbr1		Alliance of Genome Resources
Lynch syndrome	GSTT1*	Gstt1		Alliance of Genome Resources
Lynch syndrome	TCF4*	Tcf4		Alliance of Genome Resources
Lynch syndrome	TAF1B*	Taf1b		Alliance of Genome Resources
Lynch syndrome	SMAD4*	Smad4		Alliance of Genome Resources
Lynch syndrome	SMAD3*	Smad3		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	RNASET2*	Rnaset2a, Rnaset2b		Alliance of Genome Resources
Lynch syndrome	RNASEL*	Rnasel		Alliance of Genome Resources
Lynch syndrome	PMS2*	Pms2		Alliance of Genome Resources
Lynch syndrome	PMS1*	Pms1		Alliance of Genome Resources
Lynch syndrome	KRAS*	Kras		Alliance of Genome Resources
Lynch syndrome	MARCKS*	Marcks		Alliance of Genome Resources
Lynch syndrome	MSH6*	Msh6		Alliance of Genome Resources
Lynch syndrome	MRE11*	Mre11a		Alliance of Genome Resources
Lynch syndrome	ACVR2A*	Acvr2a		Alliance of Genome Resources
Lynch syndrome	MLH3*	Mlh3		Alliance of Genome Resources
Lynch syndrome 1	MSH2*	Msh2		Alliance of Genome Resources
mandibulofacial dysostosis, Guion-Almeida type	EFTUD2*	Eftud2	2 "NOT" models	Alliance of Genome Resources
Marshall-Smith syndrome	NFIX*	Nfix		Alliance of Genome Resources
Marshall syndrome	COL11A1*	Col11a1		Alliance of Genome Resources
Martsolf syndrome	RAB3GAP2*	Rab3gap2		Alliance of Genome Resources
McCune Albright syndrome	GNAS*	Gnas		Alliance of Genome Resources
McKusick-Kaufman syndrome	MKKS*	Mkks		Alliance of Genome Resources
Meckel syndrome	TXNDC15*	Txndc15		Alliance of Genome Resources
Meckel syndrome	TMEM231*	Tmem231		Alliance of Genome Resources
Meckel syndrome	KIF14*	Kif14		Alliance of Genome Resources
Meckel syndrome 1	MKS1*	Mks1		Alliance of Genome Resources
Meckel syndrome 13	TMEM107*	Tmem107		Alliance of Genome Resources
Meckel syndrome 2	TMEM216*	Tmem216		Alliance of Genome Resources
Meckel syndrome 3	TMEM67*	Tmem67		Alliance of Genome Resources
Meckel syndrome 4	CEP290*	Cep290		Alliance of Genome Resources
Meckel syndrome 5	RPGRIP1L*	Rpgrip1l		Alliance of Genome Resources
Meckel syndrome 6	CC2D2A*	Cc2d2a		Alliance of Genome Resources
Meckel syndrome 7	NPHP3*	Nphp3		Alliance of Genome Resources
Meckel syndrome 8	TCTN2*	Tctn2		Alliance of Genome Resources
MEDNIK syndrome	AP1S1*	Ap1s1		Alliance of Genome Resources
Meester-Loeys syndrome	BGN*	Bgn		Alliance of Genome Resources
megacystis-microcolon-intestinal hypoperistalsis syndrome	MYLK*	Mylk		Alliance of Genome Resources
megacystis-microcolon-intestinal hypoperistalsis syndrome	MYL9*	Myl9		Alliance of Genome Resources
megacystis-microcolon-intestinal hypoperistalsis syndrome	MYH11*	Myh11		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
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, growth deficiency, seizures, and brain malformations	WDR4*	Wdr4		Alliance of Genome Resources
microcephaly-micromelia syndrome	DONSON*	Donson		Alliance of Genome Resources
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	KIF11*	Kif11		Alliance of Genome Resources
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	AMMECR1*	Ammecr1		Alliance of Genome Resources
mismatch repair cancer syndrome	MLH1*	Mlh1		Alliance of Genome Resources
mismatch repair cancer syndrome	ASTE1*	Aste1		Alliance of Genome Resources
mismatch repair cancer syndrome	MSH2*	Msh2		Alliance of Genome Resources
mismatch repair cancer syndrome	MSH6*	Msh6		Alliance of Genome Resources
mismatch repair cancer syndrome	PMS2*	Pms2		Alliance of Genome Resources
mismatch repair cancer syndrome	POLE*	Pole		Alliance of Genome Resources
mismatch repair cancer syndrome	RNASET2*	Rnaset2a, Rnaset2b		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	TAF1B*	Taf1b		Alliance of Genome Resources
mismatch repair cancer syndrome	TFDP1*, TFDP3	Tfdp1		Alliance of Genome Resources
mismatch repair cancer syndrome	TGFBR2*	Tgfbr2		Alliance of Genome Resources
mismatch repair cancer syndrome	TP53*	Trp53		Alliance of Genome Resources
mosaic variegated aneuploidy syndrome	SMC5*	Smc5		Alliance of Genome Resources
mosaic variegated aneuploidy syndrome	SLF2*	Slf2		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
mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	MAD1L1*	Mad1l1		Alliance of Genome Resources
Muckle-Wells syndrome	NLRP3*	Nlrp3		Alliance of Genome Resources
Muckle-Wells syndrome	IL1RN*	Il1rn		Alliance of Genome Resources
Muir-Torre syndrome	MLH1*	Mlh1		Alliance of Genome Resources
Muir-Torre syndrome	MSH2*	Msh2		Alliance of Genome Resources
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly	CEP55*	Cep55		Alliance of Genome Resources
multiple chemical sensitivity	CYP2C19*, CYP2C8, CYP2C9, CYP2C18	Cyp2c29, Cyp2c37, Cyp2c38, Cyp2c39, Cyp2c40, Cyp2c50, Cyp2c54, Cyp2c55, Cyp2c65, Cyp2c66, Cyp2c67, Cyp2c68, Cyp2c69		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 with myopia and deafness	COL2A1*	Col2a1		Alliance of Genome Resources
Naegeli-Franceschetti-Jadassohn syndrome	KRT14*	Krt14		Alliance of Genome Resources
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome	ATAD3A*, ATAD3B, ATAD3C	Atad3a		Alliance of Genome Resources
Nestor-Guillermo progeria syndrome	BANF1*	Banf1		Alliance of Genome Resources
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	INTS1*	Ints1		Alliance of Genome Resources
neurodevelopmental disorder with hypotonia and speech delay	EIF4A2*	Eif4a2		Alliance of Genome Resources
neurofibromatosis-Noonan syndrome	NF1*	Nf1		Alliance of Genome Resources
neurooculocardiogenitourinary syndrome	WDR37*	Wdr37		Alliance of Genome Resources
nevoid basal cell carcinoma syndrome 1	PTCH1*	Ptch1		Alliance of Genome Resources
nevoid basal cell carcinoma syndrome 2	SUFU*	Sufu		Alliance of Genome Resources
NFIA-related disorder	NFIA*	Nfia		Alliance of Genome Resources
Nicolaides-Baraitser syndrome	SMARCA2*	Smarca2		Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 4	MPLKIP*	Mplkip, Mplkipl1		Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 5	RNF113A*	Rnf113a1, Rnf113a2		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
Noonan syndrome	RIT1*	Rit1		Alliance of Genome Resources
Noonan syndrome	RASA2*	Rasa2		Alliance of Genome Resources
Noonan syndrome	RAF1*	Raf1		Alliance of Genome Resources
Noonan syndrome	PTPN11*	Ptpn11		Alliance of Genome Resources
Noonan syndrome	LZTR1*	Lztr1		Alliance of Genome Resources
Noonan syndrome	KRAS*	Kras		Alliance of Genome Resources
Noonan syndrome	SOS1*	Sos1		Alliance of Genome Resources
Noonan syndrome	SPRED2*	Spred2		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-like disorder with loose anagen hair 1	SHOC2*	Shoc2		Alliance of Genome Resources
Noonan syndrome-like disorder with loose anagen hair 2	PPP1CB*	Ppp1cb		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
oblique facial clefting 1	SPECC1L*	Specc1l		Alliance of Genome Resources
oculocerebrorenal syndrome	OCRL*	Ocrl	2 models	Alliance of Genome Resources
oculocutaneous albinism	DCT*	Dct		Alliance of Genome Resources
oculocutaneous albinism	TYRP1*	Tyrp1		Alliance of Genome Resources
oculocutaneous albinism	HPS1*	Hps1		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	MC1R*	Mc1r		Alliance of Genome Resources
oculocutaneous albinism type II	OCA2*	Oca2		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
oculoectodermal syndrome	KRAS*	Kras		Alliance of Genome Resources
Ogden syndrome	NAA10*	Naa10		Alliance of Genome Resources
Ohdo syndrome, SBBYS variant	KAT6B*	Kat6b		Alliance of Genome Resources
Oliver-McFarlane syndrome	PNPLA6*	Pnpla6		Alliance of Genome Resources
orofacial cleft	ACSS2*	Acss2		Alliance of Genome Resources
orofacial cleft	LOXHD1*	Loxhd1		Alliance of Genome Resources
orofacial cleft	MYH9*	Myh9		Alliance of Genome Resources
orofacial cleft	GSTT1*	Gstt1		Alliance of Genome Resources
orofacial cleft	AXIN2*	Axin2		Alliance of Genome Resources
orofacial cleft	PHYH*	Phyh		Alliance of Genome Resources
orofacial cleft	MEIS2*	Meis2		Alliance of Genome Resources
orofacial cleft 10	SUMO1*	Sumo1		Alliance of Genome Resources
orofacial cleft 11	BMP4*	Bmp4		Alliance of Genome Resources
orofacial cleft 15	DLX4*	Dlx4		Alliance of Genome Resources
orofacial cleft 5	MSX1*	Msx1		Alliance of Genome Resources
orofacial cleft 6	IRF6*	Irf6		Alliance of Genome Resources
orofacial cleft 8	TP63*	Trp63		Alliance of Genome Resources
orofaciodigital syndrome	KIAA0753*	4933427D14Rik		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
overactive bladder syndrome	PENK*	Penk		Alliance of Genome Resources
overactive bladder syndrome	NGF*	Ngf		Alliance of Genome Resources
pachyonychia congenita	KRT6A*, KRT6B*, KRT6C	Gm5414, Gm5478, Krt6a, Krt6b	1 model	Alliance of Genome Resources
pachyonychia congenita	KRT17*	Krt17	1 model	Alliance of Genome Resources
palmoplantar keratoderma and congenital alopecia 1	GJA1*	Gja1		Alliance of Genome Resources
palmoplantar keratoderma-deafness syndrome	GJB2*	Gjb2		Alliance of Genome Resources
pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GATA6*	Gata6		Alliance of Genome Resources
PAPA syndrome	PSTPIP1*	Pstpip1		Alliance of Genome Resources
Papillon-Lefevre disease	CTSC*	Ctsc		Alliance of Genome Resources
Perrault syndrome	TWNK*	Twnk		Alliance of Genome Resources
Perrault syndrome	LARS2*	Lars2		Alliance of Genome Resources
Perrault syndrome	HSD17B4*	Hsd17b4		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
plasminogen deficiency type I	PLG*	Plg		Alliance of Genome Resources
polyhydramnios, megalencephaly, and symptomatic epilepsy	STRADA*	Strada		Alliance of Genome Resources
postaxial acrofacial dysostosis	DHODH*	Dhodh		Alliance of Genome Resources
primary ciliary dyskinesia	BRWD1*	Brwd1		Alliance of Genome Resources
primary ciliary dyskinesia	CFAP74*	Cfap74		Alliance of Genome Resources
primary ciliary dyskinesia	CLXN*	Clxn		Alliance of Genome Resources
primary ciliary dyskinesia	DNAH7*	Dnah7a, Dnah7b, Dnah7c		Alliance of Genome Resources
primary ciliary dyskinesia	NME5*	Nme5		Alliance of Genome Resources
primary ciliary dyskinesia	STK36*	Stk36		Alliance of Genome Resources
primary ciliary dyskinesia	TP73*	Trp73		Alliance of Genome Resources
primary ciliary dyskinesia 11	RSPH4A*	Rsph4a		Alliance of Genome Resources
primary ciliary dyskinesia 12	RSPH9*	Rsph9		Alliance of Genome Resources
primary ciliary dyskinesia 13	DNAAF1*	Dnaaf1		Alliance of Genome Resources
primary ciliary dyskinesia 15	CCDC40*	Ccdc40		Alliance of Genome Resources
primary ciliary dyskinesia 16	DNAL1*	Dnal1		Alliance of Genome Resources
primary ciliary dyskinesia 17	DNAAF19*	Ccdc103		Alliance of Genome Resources
primary ciliary dyskinesia 18	DNAAF5*	Dnaaf5		Alliance of Genome Resources
primary ciliary dyskinesia 20	ODAD1*	Odad1		Alliance of Genome Resources
primary ciliary dyskinesia 24	RSPH1*	Rsph1		Alliance of Genome Resources
primary ciliary dyskinesia 26	CFAP298*	Cfap298		Alliance of Genome Resources
primary ciliary dyskinesia 27	DRC2*	Ccdc65		Alliance of Genome Resources
primary ciliary dyskinesia 28	SPAG1*	Spag1		Alliance of Genome Resources
primary ciliary dyskinesia 29	CCNO*	Ccno		Alliance of Genome Resources
primary ciliary dyskinesia 32	RSPH3*	Rsph3a, Rsph3b		Alliance of Genome Resources
primary ciliary dyskinesia 34	DNAJB13*	Dnajb13		Alliance of Genome Resources
primary ciliary dyskinesia 36	DNAAF6*	Dnaaf6, Dnaaf6rt		Alliance of Genome Resources
primary ciliary dyskinesia 37	DNAH1*	Dnah1		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 ciliary dyskinesia 5	HYDIN*	Hydin		Alliance of Genome Resources
primary ciliary dyskinesia 6	NME8*	Nme8		Alliance of Genome Resources
primary ciliary dyskinesia 9	DNAI2*	Dnai2		Alliance of Genome Resources
primary hypertrophic osteoarthropathy	SLCO2A1*	Slco2a1		Alliance of Genome Resources
primary hypertrophic osteoarthropathy	HPGD*	Hpgd		Alliance of Genome Resources
progeria	GH1*, CSH1, CSH2, CSHL1, GH2	Gh		Alliance of Genome Resources
progressive osseous heteroplasia	GNAS*	Gnas		Alliance of Genome Resources
proprotein convertase 1/3 deficiency	PCSK1*	Pcsk1		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
rapadilino syndrome	RECQL4*	Recql4		Alliance of Genome Resources
Rapp-Hodgkin syndrome	TP63*	Trp63		Alliance of Genome Resources
RASopathy	RIT1*	Rit1		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
Ritscher-Schinzel syndrome	VPS35L*	Vps35l		Alliance of Genome Resources
Ritscher-Schinzel syndrome	DPYSL5*	Dpysl5		Alliance of Genome Resources
Ritscher-Schinzel syndrome 1	WASHC5*	Washc5		Alliance of Genome Resources
Ritscher-Schinzel syndrome 2	CCDC22*	Ccdc22		Alliance of Genome Resources
Roberts syndrome	ESCO2*	Esco2		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
salt and pepper syndrome	ST3GAL5*	St3gal5		Alliance of Genome Resources
Sandestig-Stefanova syndrome	NUP188*	Nup188		Alliance of Genome Resources
SATB2-associated syndrome	SATB2*	Satb2		Alliance of Genome Resources
Schaaf-Yang syndrome	MAGEL2*	Magel2		Alliance of Genome Resources
Schinzel Giedion syndrome	SETBP1*	Setbp1		Alliance of Genome Resources
Schinzel type phocomelia	WNT7A*	Wnt7a		Alliance of Genome Resources
Schopf-Schulz-Passarge syndrome	WNT10A*	Wnt10a		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
Senior-Loken syndrome	NPHP1*	Nphp1		Alliance of Genome Resources
Senior-Loken syndrome	CEP290*	Cep290		Alliance of Genome Resources
Senior-Loken syndrome	IQCB1*	Iqcb1		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
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
Shukla-Vernon syndrome	BCORL1*	Bcorl1		Alliance of Genome Resources
Shwachman-Diamond syndrome	EFL1*	Efl1		Alliance of Genome Resources
Simpson-Golabi-Behmel syndrome type 2	OFD1*	Ofd1		Alliance of Genome Resources
Sjogren-Larsson syndrome	ALDH3A2*	Aldh3a2	1 model	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
spinal neurofibromatosis	NF1*	Nf1		Alliance of Genome Resources
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis	NMNAT1*	Nmnat1		Alliance of Genome Resources
Stickler syndrome	COL9A1*	Col9a1		Alliance of Genome Resources
Stickler syndrome	COL9A2*	Col9a2		Alliance of Genome Resources
Stickler syndrome	COL2A1*	Col2a1		Alliance of Genome Resources
Stickler syndrome	COL9A3*	Col9a3		Alliance of Genome Resources
Stickler syndrome 1	COL2A1*	Col2a1		Alliance of Genome Resources
Stickler syndrome 2	COL11A1*	Col11a1		Alliance of Genome Resources
Stolerman neurodevelopmental syndrome	KDM6B*	Kdm6b		Alliance of Genome Resources
Stromme syndrome	CENPF*	Cenpf	1 "NOT" model	Alliance of Genome Resources
sudden infant death syndrome	SCN5A*	Scn5a		Alliance of Genome Resources
sudden infant death syndrome	SNTA1*	Snta1		Alliance of Genome Resources
sudden infant death syndrome	TSPYL1*, TSPYL6	Tspyl1		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
TANGO2-related metabolic encephalopathy and arrythmias	TANGO2*	Tango2		Alliance of Genome Resources
TARP syndrome	RBM10*	Rbm10		Alliance of Genome Resources
Teebi hypertelorism syndrome 2	CDH11*	Cdh11		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
thrombocytopenia-absent radius syndrome	RBM8A*	Rbm8a		Alliance of Genome Resources
tooth and nail syndrome	MSX1*	Msx1		Alliance of Genome Resources
Townes-Brocks syndrome	DACT1*	Dact1		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
trichothiodystrophy	ERCC3*	Ercc3		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	TSC2*	Tsc2		Alliance of Genome Resources
tuberous sclerosis 2	IFNG*	Ifng		Alliance of Genome Resources
urofacial syndrome	LRIG2*	Lrig2		Alliance of Genome Resources
Uruguay faciocardiomusculoskeletal syndrome	FHL1*	Fhl1		Alliance of Genome Resources
Usher syndrome	ARSG*	Arsg		Alliance of Genome Resources
Usher syndrome	MYO7A*	Myo7a		Alliance of Genome Resources
Usher syndrome	USH1C*	Ush1c		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
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
VEXAS syndrome	UBA1*	Uba1		Alliance of Genome Resources
Vici syndrome	EPG5*	Epg5		Alliance of Genome Resources
Vissers-Bodmer syndrome	CNOT1*	Cnot1		Alliance of Genome Resources
Vohwinkel syndrome	GJB2*	Gjb2		Alliance of Genome Resources
Waardenburg syndrome	EDN3*	Edn3		Alliance of Genome Resources
Waardenburg syndrome	EDNRB*	Ednrb		Alliance of Genome Resources
Waardenburg syndrome	KITLG*	Kitl		Alliance of Genome Resources
Waardenburg syndrome	MITF*	Mitf		Alliance of Genome Resources
Waardenburg syndrome	PAX3*	Pax3		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
Waisman syndrome	RAB39B*	Rab39b		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
Wiedemann-Rautenstrauch syndrome	POLR3A*	Polr3a		Alliance of Genome Resources
Williams-Beuren syndrome	NCF1*, NCF1B, NCF1C	Ncf1		Alliance of Genome Resources
Williams-Beuren syndrome	RCC1L*	Rcc1l		Alliance of Genome Resources
Williams-Beuren syndrome	BUD23*	Bud23	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	DNAJC30*	Dnajc30	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	ELN*	Eln	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	FKBP6*	Fkbp6	2 models	Alliance of Genome Resources
Williams-Beuren syndrome	FZD3*	Fzd3		Alliance of Genome Resources
Williams-Beuren syndrome	LAT2*	Lat2	2 models	Alliance of Genome Resources
Winchester syndrome	MMP14*	Mmp14		Alliance of Genome Resources
Wolfram syndrome	ND1*	mt-Nd1		Alliance of Genome Resources
Wolfram syndrome	WFS1*	Wfs1		Alliance of Genome Resources
Wolfram syndrome 2	CISD2*	Cisd2	1 model	Alliance of Genome Resources
Woodhouse-Sakati syndrome	DCAF17*	Dcaf17		Alliance of Genome Resources
wrinkly skin syndrome	ATP6V0A2*	Atp6v0a2		Alliance of Genome Resources
xeroderma pigmentosum	XPC*	Xpc		Alliance of Genome Resources
xeroderma pigmentosum	XPA*	Xpa		Alliance of Genome Resources
xeroderma pigmentosum	ERCC4*	Ercc4		Alliance of Genome Resources
xeroderma pigmentosum	ERCC3*	Ercc3		Alliance of Genome Resources
xeroderma pigmentosum	ERCC2*	Ercc2		Alliance of Genome Resources
xeroderma pigmentosum	DDB2*	Ddb2		Alliance of Genome Resources
XFE progeroid syndrome	ERCC4*	Ercc4		Alliance of Genome Resources
X-linked Aarskog syndrome	FGD1*	Fgd1		Alliance of Genome Resources
X-linked chondrodysplasia punctata 1	ARSL*
X-linked chondrodysplasia punctata 2	EBP*	Ebp		Alliance of Genome Resources
X-linked retinitis pigmentosa and sinorespiratory infections	RPGR*	Rpgr		Alliance of Genome Resources
X-linked VACTERL association	ZIC3*	Zic3		Alliance of Genome Resources
Yoon-Bellen neurodevelopmental syndrome	OGDHL*	Ogdhl		Alliance of Genome Resources
Zollinger-Ellison syndrome	EGF*	Egf		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
	Angelman syndrome	Del(7Gabrb3-Ube3a)1Yhj	1 model
	autosomal dominant keratitis-ichthyosis-deafness syndrome	Tg(tetO-GJB2*G45E,-EGFP)#Tww	1 model
	Beckwith-Wiedemann syndrome	Tg(YACW408A5)1952Ricc	1 model
	Carney complex	Tg(tetO-Prkar1a*x2as)1Stra	1 model
	cleft palate	Tg(CAG-LacZ,-ACVR1*,-EGFP)35-1Mis	1 model
	cystic fibrosis	Tg(Scgb1a1-Scnn1b)6608Bouc	1 model
	DiGeorge syndrome	Del(16Dgcr2-Hira)3Aam	1 model
	DiGeorge syndrome	Del(16Es2el-Ufd1l)217Bld	1 model
	DiGeorge syndrome	Del(16Dgcr2-Hira)1Rak	1 model
	Feingold syndrome	Mirc1	1 model
	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Tg(Thy1-VCP*A232E)BMaki	1 model
	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Tg(CAG-VCP*A232E)93Jpat	1 model
	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Tg(CAG-VCP*R155H)55Jpat	1 model
	Koolen de Vries syndrome	Del(11Arf2-Kansl1)8Yah	1 model
	Marsili syndrome	Tg(Zfhx2*R1907K)#Jcox	1 model
	McCune Albright syndrome	Tg(EEF1A1-Gnas*R201C)184Pabi	1 model
	McCune Albright syndrome	Tg(tetO-HTR4*D100A)2Niss	1 model
	McCune Albright syndrome	Tg(PGK1-Gnas*R201C)60Pabi	1 model
	Meckel syndrome	bpck	1 model
	nevoid basal cell carcinoma syndrome	Tg(KRT14-Shh)#Cobm	1 model
	Noonan syndrome 1	Tg(Myh7-Ptpn11*Q79R)11Rbns	1 model
	Noonan syndrome 1	Tg(CAG-cat,-Ptpn11*Q97R)1Rbns	2 models
	Noonan syndrome with multiple lentigines	Tg(CAG-cat,-Ptpn11*Q510E)#Krnz	1 model
	Noonan syndrome with multiple lentigines	Tg(Myh7-Ptpn11*Q510E)#Krnz	1 model
	PCWH syndrome	Tg(Venus/SOX10*)55Kein	2 models
	Perry syndrome	Tg(Thy1-DCTN1*G71A)#Ytsu	1 model
	Prader-Willi syndrome	T(7;18)50H	1 model
	Prader-Willi syndrome	Tg(Igh-Lmp2a)13FRdni	1 model
	Prader-Willi syndrome	T(7;18)50H	1 model
	Prader-Willi syndrome	Snord116	2 models
	Prader-Willi syndrome	Del(7Ipw-Snord116)1Jbro	1 model
	Prader-Willi syndrome	Del(7Herc2-Mkrn3)13FRdni	1 model
	primary ciliary dyskinesia	Del(19Poll-Dcpd)1Nmt	1 model
	primary ciliary dyskinesia	Del(1)1Brk	1 model
	progeria	Tg(tetO-LMNA*G608G,-EGFP)VF1-07Maer	1 model
	progeria	Tg(LMNA*G608G)HClns	1 model
	Sotos syndrome	Del(13Simc1-B4galt7)2Dja	1 model
	tuberous sclerosis	Tg(CAG-Mtor*)#Atai	1 model
	tuberous sclerosis	Tg(CMV-Tsc2*)1Arbi	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)PMBlas	1 model
	xeroderma pigmentosum	Tg(KRT5-Terf2)POBlas	1 model