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
			2-aminoadipic 2-oxoadipic aciduria	DHTKD1*	Dhtkd1*	1 model	Alliance of Genome Resources
			3-methylglutaconic aciduria type 3	OPA3*	Opa3*	1 model	Alliance of Genome Resources
			3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	SERAC1*	Serac1*	1 model	Alliance of Genome Resources
			aceruloplasminemia	CP*	Cp*	3 models	Alliance of Genome Resources
			acrodermatitis enteropathica	SLC39A4*	Slc39a4*	1 model	Alliance of Genome Resources
			acute intermittent porphyria	HMBS*	Hmbs*	2 models	Alliance of Genome Resources
			adenine phosphoribosyltransferase deficiency	APRT*	Aprt*	3 models	Alliance of Genome Resources
			alacrima, achalasia, and impaired intellectual development syndrome	GMPPA*	Gmppa*	1 model	Alliance of Genome Resources
			Albright's hereditary osteodystrophy	GNAS*	Gnas*	2 models	Alliance of Genome Resources
			alkaptonuria	HGD*	Hgd*	2 models	Alliance of Genome Resources
			alpha-mannosidosis	MAN2B1*	Man2b1*	1 model	Alliance of Genome Resources
			alpha-methylacyl-CoA racemase deficiency	AMACR*	Amacr*	1 model	Alliance of Genome Resources
			argininosuccinic aciduria	ASL*	Asl*	2 models	Alliance of Genome Resources
			aromatic L-amino acid decarboxylase deficiency	DDC*	Ddc*	1 model	Alliance of Genome Resources
			aspartylglucosaminuria	AGA*	Aga*	2 models	Alliance of Genome Resources
			atransferrinemia	TF*	Trf*	2 models	Alliance of Genome Resources
			autosomal dominant hypocalcemia 1	CASR*	Casr*	2 models	Alliance of Genome Resources
			autosomal dominant hypocalcemia 2	GNA11*	Gna11*	2 models	Alliance of Genome Resources
			autosomal recessive hypercholesterolemia	LDLRAP1*	Ldlrap1*	2 models	Alliance of Genome Resources
			Barth syndrome	TAFAZZIN*	Tafazzin*	2 models	Alliance of Genome Resources
			beta-mannosidosis	MANBA*	Manba*	1 model	Alliance of Genome Resources
			BH4-deficient hyperphenylalaninemia A	PTS*	Pts*	2 models	Alliance of Genome Resources
			BH4-deficient hyperphenylalaninemia B	GCH1*	Gch1*	1 model	Alliance of Genome Resources
			biotinidase deficiency	BTD*	Btd*	1 model	Alliance of Genome Resources
			branched-chain keto acid dehydrogenase kinase deficiency	BCKDK*	Bckdk*	1 model	Alliance of Genome Resources
			Brunner Syndrome	MAOA*	Maoa*	2 models	Alliance of Genome Resources
			carbamoyl phosphate synthetase I deficiency disease	CPS1*	Cps1*	1 model	Alliance of Genome Resources
			carnitine palmitoyltransferase I deficiency	CPT1A*	Cpt1a*	1 model	Alliance of Genome Resources
			chylomicron retention disease	SAR1B*	Sar1b*	2 models	Alliance of Genome Resources
			citrullinemia	ASS1*	Ass1*	6 models	Alliance of Genome Resources
			combined saposin deficiency	PSAP*	Psap*	1 model	Alliance of Genome Resources
			congenital adrenal hyperplasia	STAR*	Star*	1 model	Alliance of Genome Resources
			congenital adrenal hyperplasia	CYP11B1*, CYP11B2	Cyp11b1*, Cyp11b2	1 model	Alliance of Genome Resources
			congenital bile acid synthesis defect 5	ABCD3*	Abcd3*	1 model	Alliance of Genome Resources
			congenital disorder of glycosylation type IIa	MGAT2*	Mgat2*	2 models	Alliance of Genome Resources
			congenital disorder of glycosylation type IIc	SLC35C1*	Slc35c1*	1 model	Alliance of Genome Resources
			creatine transporter deficiency	SLC6A8*	Slc6a8*	5 models	Alliance of Genome Resources
			cutaneous porphyria	UROS*	Uros*	3 models	Alliance of Genome Resources
			cystathioninuria	CTH*	Cth*	1 model	Alliance of Genome Resources
			cystinosis	CTNS*	Ctns*	1 model	Alliance of Genome Resources
			cystinuria	SLC7A9*	Slc7a9*	2 models	Alliance of Genome Resources
			cystinuria	SLC3A1*	Slc3a1*	4 models	Alliance of Genome Resources
			cytochrome-c oxidase deficiency disease	COX10*	Cox10*	1 model	Alliance of Genome Resources
			cytochrome-c oxidase deficiency disease	SCO1*	Sco1*	1 model	Alliance of Genome Resources
			cytochrome-c oxidase deficiency disease	SCO2*	Sco2*	1 model	Alliance of Genome Resources
			Danon disease	LAMP2*	Lamp2*	3 models	Alliance of Genome Resources
			D-bifunctional protein deficiency	HSD17B4*	Hsd17b4*	2 models	Alliance of Genome Resources
			dicarboxylic aminoaciduria	SLC1A1*	Slc1a1*	1 model	Alliance of Genome Resources
			dopamine beta-hydroxylase deficiency	DBH*	Dbh*	1 model	Alliance of Genome Resources
			erythropoietic protoporphyria	FECH*	Fech*	3 models	Alliance of Genome Resources
			ethylmalonic encephalopathy	ETHE1*	Ethe1*	1 model	Alliance of Genome Resources
			Fabry disease	GLA*	Gla*	3 models	Alliance of Genome Resources
			familial hypercholesterolemia	LDLR*	Ldlr*	7 models	Alliance of Genome Resources
			familial hyperinsulinemic hypoglycemia 3	GCK*	Gck*	1 model	Alliance of Genome Resources
			familial hypocalciuric hypercalcemia 1	CASR*	Casr*	7 models	Alliance of Genome Resources
			familial isolated deficiency of vitamin E	TTPA*	Ttpa*	3 models	Alliance of Genome Resources
			familial lipoprotein lipase deficiency	LPL*	Lpl*	4 models	Alliance of Genome Resources
			Farber lipogranulomatosis	ASAH1*	Asah1*	3 models	Alliance of Genome Resources
			favism	G6PD*	G6pdx*, G6pd2	1 model	Alliance of Genome Resources
			fucosidosis	FUCA1*	Fuca1*	1 model	Alliance of Genome Resources
			Gaucher's disease	GBA1*	Gba*	9 models	Alliance of Genome Resources
			Gaucher's disease type I	GBA1*	Gba*	5 models	Alliance of Genome Resources
			Gaucher's disease type II	GBA1*	Gba*	2 models	Alliance of Genome Resources
			glutaric acidemia I	GCDH*	Gcdh*	2 models	Alliance of Genome Resources
glutaric acidemia type 3	SUGCT*	Sugct*	1 model	Alliance of Genome Resources
glycerol kinase deficiency	GK*	Gk*, Gykl1	1 model	Alliance of Genome Resources
glycine encephalopathy	GLDC*	Gldc*	1 model	Alliance of Genome Resources
glycine N-methyltransferase deficiency	GNMT*	Gnmt*	2 models	Alliance of Genome Resources
glycogen storage disease II	GAA*	Gaa*	5 models	Alliance of Genome Resources
glycogen storage disease III	AGL*	Agl*	2 models	Alliance of Genome Resources
glycogen storage disease IV	GBE1*	Gbe1*	4 models	Alliance of Genome Resources
glycogen storage disease IXb	PHKB*	Phkb*	1 model	Alliance of Genome Resources
glycogen storage disease IXd	PHKA1*	Phka1*	2 models	Alliance of Genome Resources
glycogen storage disease V	PYGM*	Pygm*	1 model	Alliance of Genome Resources
glycogen storage disease VI	PYGL*	Pygl*	1 model	Alliance of Genome Resources
glycogen storage disease VII	PFKM*	Pfkm*	1 model	Alliance of Genome Resources
glycogen storage disease XV	GYG1*	Gyg*	1 model	Alliance of Genome Resources
GM1 gangliosidosis	GLB1*	Glb1*	3 models	Alliance of Genome Resources
GM2 gangliosidosis, AB variant	GM2A*	Gm2a*	1 model	Alliance of Genome Resources
GRACILE syndrome	BCS1L*	Bcs1l*	1 model	Alliance of Genome Resources
guanidinoacetate methyltransferase deficiency	GAMT*	Gamt*	1 model	Alliance of Genome Resources
Hartnup disease	SLC6A19*	Slc6a19*	1 model	Alliance of Genome Resources
hemochromatosis type 1	HFE*	Hfe*	13 models	Alliance of Genome Resources
hemochromatosis type 2A	HJV*	Hjv*	2 models	Alliance of Genome Resources
hemochromatosis type 2B	HAMP*	Hamp*, Hamp2	1 model	Alliance of Genome Resources
hemochromatosis type 3	TFR2*	Tfr2*	2 models	Alliance of Genome Resources
hemochromatosis type 4	SLC40A1*	Slc40a1*	3 models	Alliance of Genome Resources
hereditary coproporphyria	CPOX*	Cpox*	2 models	Alliance of Genome Resources
HMG-CoA synthase 2 deficiency	HMGCS2*	Hmgcs2*	2 models	Alliance of Genome Resources
homocystinuria	CBS*	Cbs*	4 models	Alliance of Genome Resources
hyperargininemia	ARG1*	Arg1*	1 model	Alliance of Genome Resources
hyperhomocysteinemia	CBS*	Cbs*	2 models	Alliance of Genome Resources
hyperkalemic periodic paralysis	SCN4A*	Scn4a*	4 models	Alliance of Genome Resources
hypokalemic periodic paralysis	CACNA1S*	Cacna1s*	2 models	Alliance of Genome Resources
Krabbe disease	GALC*	Galc*	3 models	Alliance of Genome Resources
L-2-hydroxyglutaric aciduria	L2HGDH*	L2hgdh*	1 model	Alliance of Genome Resources
Leigh disease	SURF1*	Surf1*	1 model	Alliance of Genome Resources
Leigh disease	NDUFS4*	Ndufs4*	3 models	Alliance of Genome Resources
Lesch-Nyhan syndrome	HPRT1*	Hprt*	2 models	Alliance of Genome Resources
lysinuric protein intolerance	SLC7A7*	Slc7a7*	1 model	Alliance of Genome Resources
lysosomal acid lipase deficiency	LIPA*	Lipa*	1 model	Alliance of Genome Resources
maple syrup urine disease	PPM1K*	Ppm1k*	1 model	Alliance of Genome Resources
maple syrup urine disease	DBT*	Dbt*	3 models	Alliance of Genome Resources
maturity-onset diabetes of the young type 1	HNF4A*	Hnf4a*	1 model	Alliance of Genome Resources
maturity-onset diabetes of the young type 2	GCK*	Gck*	29 models	Alliance of Genome Resources
maturity-onset diabetes of the young type 3	HNF1A*	Hnf1a*	3 models	Alliance of Genome Resources
maturity-onset diabetes of the young type 4	PDX1*	Pdx1*	1 model	Alliance of Genome Resources
medium chain acyl-CoA dehydrogenase deficiency	ACADM*	Acadm*	1 model	Alliance of Genome Resources
Menkes disease	ATP7A*	Atp7a*	10 models	Alliance of Genome Resources
Menkes disease	LOX*	Lox*	1 model	Alliance of Genome Resources
metachromatic leukodystrophy	ARSA*	Arsa*	1 model	Alliance of Genome Resources
methylmalonic acidemia and homocysteinemia cblX type	HCFC1*	Hcfc1*	1 model	Alliance of Genome Resources
methylmalonic acidemia due to transcobalamin receptor defect	CD320*	Cd320*	1 model	Alliance of Genome Resources
methylmalonic aciduria and homocystinuria type cblC	MMACHC*	Mmachc*	1 model	Alliance of Genome Resources
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	MMUT*	Mmut*	7 models	Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 1	BCS1L*	Bcs1l*	1 model	Alliance of Genome Resources
mitochondrial DNA depletion syndrome 2	TK2*	Tk2*	1 model	Alliance of Genome Resources
mitochondrial DNA depletion syndrome 5	SUCLA2*	Sucla2*	1 model	Alliance of Genome Resources
mucolipidosis II alpha/beta	GNPTAB*	Gnptab*	4 models	Alliance of Genome Resources
mucolipidosis type IV	MCOLN1*	Mcoln1*	1 model	Alliance of Genome Resources
mucopolysaccharidosis	ARSK*	Arsk*	1 model	Alliance of Genome Resources
mucopolysaccharidosis I	IDUA*	Idua*	5 models	Alliance of Genome Resources
mucopolysaccharidosis II	IDS*	Ids*	5 models	Alliance of Genome Resources
mucopolysaccharidosis III	SGSH*	Sgsh*	1 model	Alliance of Genome Resources
mucopolysaccharidosis III	NAGLU*	Naglu*	3 models	Alliance of Genome Resources
mucopolysaccharidosis III	GNS*	Gns*	1 model	Alliance of Genome Resources
mucopolysaccharidosis IX	HYAL1*	Hyal1*	1 model	Alliance of Genome Resources
mucopolysaccharidosis VI	ARSB*	Arsb*	3 models	Alliance of Genome Resources
mucosulfatidosis	SUMF1*	Sumf1*	1 model	Alliance of Genome Resources
neonatal diabetes mellitus with congenital hypothyroidism	GLIS3*	Glis3*	2 models	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 1	PPT1*	Ppt1*	3 models	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 10	CTSD*	Ctsd*	4 models	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 2	TPP1*	Tpp1*	4 models	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3	CLN3*	Cln3*	7 models	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 5	CLN5*	Cln5*	1 model	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 6A	CLN6*	Cln6*	1 model	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 7	MFSD8*	Mfsd8*	1 model	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 8	CLN8*	Cln8*	4 models	Alliance of Genome Resources
neutral lipid storage disease	ABHD5*	Abhd5*	1 model	Alliance of Genome Resources
Niemann-Pick disease	NPC2*	Npc2*	3 models	Alliance of Genome Resources
Niemann-Pick disease	SMPD1*	Smpd1*	2 models	Alliance of Genome Resources
Niemann-Pick disease type C1	NPC1*	Npc1*	2 models	Alliance of Genome Resources
non-alcoholic fatty liver disease	PNPLA3*	Pnpla3*	1 model	Alliance of Genome Resources
non-alcoholic fatty liver disease	LEPR*	Lepr*	1 model	Alliance of Genome Resources
Norum disease	LCAT*	Lcat*	2 models	Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 20	ACAD9*	Acad9*	2 models	Alliance of Genome Resources
ornithine carbamoyltransferase deficiency	OTC*	Otc*	8 models	Alliance of Genome Resources
permanent neonatal diabetes mellitus	INS*	Ins2*, Ins1	1 model	Alliance of Genome Resources
permanent neonatal diabetes mellitus	KCNJ11*	Kcnj11*	3 models	Alliance of Genome Resources
peroxisomal acyl-CoA oxidase deficiency	ACOX1*	Acox1*	1 model	Alliance of Genome Resources
phenylketonuria	PAH*	Pah*	4 models	Alliance of Genome Resources
primary coenzyme Q10 deficiency 4	COQ8A*	Coq8a*	1 model	Alliance of Genome Resources
primary hyperoxaluria type 1	AGXT*	Agxt*	2 models	Alliance of Genome Resources
primary hyperoxaluria type 2	GRHPR*	Grhpr*	2 models	Alliance of Genome Resources
propionic acidemia	PCCA*	Pcca*	2 models	Alliance of Genome Resources
pseudohypoparathyroidism	GNAS*	Gnas*	2 models	Alliance of Genome Resources
pseudopseudohypoparathyroidism	GNAS*	Gnas*	1 model	Alliance of Genome Resources
Refsum disease	PHYH*	Phyh*	1 model	Alliance of Genome Resources
renal hypomagnesemia 3	CLDN16*	Cldn16*	2 models	Alliance of Genome Resources
Sandhoff disease	HEXB*	Hexb*	9 models	Alliance of Genome Resources
short chain acyl-CoA dehydrogenase deficiency	ACADS*	Acads*	1 model	Alliance of Genome Resources
sialuria	SLC17A5*	Slc17a5*	1 model	Alliance of Genome Resources
Sly syndrome	GUSB*	Gusb*	8 models	Alliance of Genome Resources
Smith-Lemli-Opitz syndrome	DHCR7*	Dhcr7*	5 models	Alliance of Genome Resources
systemic primary carnitine deficiency disease	SLC22A5*	Slc22a5*, Slc22a21	1 model	Alliance of Genome Resources
Tangier disease	ABCA1*	Abca1*	7 models	Alliance of Genome Resources
Tay-Sachs disease	HEXA*	Hexa*	3 models	Alliance of Genome Resources
thiopurine S-methyltransferase deficiency	TPMT*	Tpmt*	1 model	Alliance of Genome Resources
transthyretin amyloidosis	TTR*	Ttr*	4 models	Alliance of Genome Resources
triosephosphate isomerase deficiency	TPI1*	Tpi1*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	PTPRN2*	Ptprn2*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	INS*	Ins2*, Ins1	7 models	Alliance of Genome Resources
type 1 diabetes mellitus	IL1R1*	Il1r1*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	GAD2*	Gad2*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	CD38*	Cd38*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	SLC2A4*	Slc2a4*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	SLC2A2*	Slc2a2*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	PPP1R3A*	Ppp1r3a*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	PPARD*	Ppard*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	LEPR*	Lepr*	7 models	Alliance of Genome Resources
type 2 diabetes mellitus	LEP*	Lep*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	IRS2*	Irs2*	4 models	Alliance of Genome Resources
type 2 diabetes mellitus	IRS1*	Irs1*	3 models	Alliance of Genome Resources
type 2 diabetes mellitus	INS*	Ins2*, Ins1	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	HNF1A*	Hnf1a*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	HMGA1*	Hmga1*, Hmga1b	2 models	Alliance of Genome Resources
type 2 diabetes mellitus	GCK*	Gck*	2 models	Alliance of Genome Resources
type 2 diabetes mellitus	CYB5R4*	Cyb5r4*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	CDKAL1*	Cdkal1*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	AKT2*	Akt2*	1 model	Alliance of Genome Resources
tyrosinemia type I	FAH*	Fah*	4 models	Alliance of Genome Resources
tyrosinemia type III	HPD*	Hpd*	1 model	Alliance of Genome Resources
variegate porphyria	PPOX*	Ppox*	2 models	Alliance of Genome Resources
very long chain acyl-CoA dehydrogenase deficiency	ACADVL*	Acadvl*	3 models	Alliance of Genome Resources
Wilson disease	ATP7B*	Atp7b*	3 models	Alliance of Genome Resources
Wolman disease	LIPA*	Lipa*	1 model	Alliance of Genome Resources
			Albright's hereditary osteodystrophy	PTHLH	Pthlh*	1 model	Alliance of Genome Resources
			Barth syndrome	MEST	Mest*	1 model	Alliance of Genome Resources
			Barth syndrome	FKBP1A, FKBP1C	Fkbp1a*	1 model	Alliance of Genome Resources
			cerebral amyloid angiopathy	ITM2B	Itm2b*	8 models	Alliance of Genome Resources
			chylomicron retention disease	PITPNA	Pitpna*	2 models	Alliance of Genome Resources
			coenzyme Q10 deficiency disease	PDSS2	Pdss2*	1 model	Alliance of Genome Resources
			coenzyme Q10 deficiency disease	COQ9	Coq9*	1 model	Alliance of Genome Resources
			combined oxidative phosphorylation deficiency	MTO1	Mto1*	1 model	Alliance of Genome Resources
			congenital disorder of glycosylation type I	PMM2	Pmm2*	1 model	Alliance of Genome Resources
			diabetes mellitus	PPARA	Ppara*	2 models	Alliance of Genome Resources
			diabetes mellitus	CLOCK	Clock*	1 model	Alliance of Genome Resources
			diabetes mellitus	BMAL1	Bmal1*	1 model	Alliance of Genome Resources
			Dubin-Johnson syndrome	RDX	Rdx*	1 model	Alliance of Genome Resources
			erythropoietic protoporphyria	ABCG2	Abcg2*, Abcg3	1 model	Alliance of Genome Resources
			familial hypobetalipoproteinemia 2	APOB	Apob*	2 models	Alliance of Genome Resources
			fatty liver disease	LEP	Lep*	1 model	Alliance of Genome Resources
			fatty liver disease	LDLR	Ldlr*	1 model	Alliance of Genome Resources
			fatty liver disease	ADK	Adk*	1 model	Alliance of Genome Resources
			fatty liver disease	IKBKG	Ikbkg*	1 model	Alliance of Genome Resources
			fatty liver disease	SIRT1	Sirt1*	1 model	Alliance of Genome Resources
			fatty liver disease	PTEN	Pten*	2 models	Alliance of Genome Resources
			fatty liver disease	PLAU	Plau*	1 model	Alliance of Genome Resources
			fatty liver disease	MC4R	Mc4r*	1 model	Alliance of Genome Resources
			fatty liver disease	LRP6	Lrp6*	1 model	Alliance of Genome Resources
			fatty liver disease	LGALS3	Lgals3*	1 model	Alliance of Genome Resources
			galactosemia	GALT	Galt*	1 model	Alliance of Genome Resources
			gestational diabetes	MET	Met*	1 model	Alliance of Genome Resources
			glucose metabolism disease	KCNH6	Kcnh6*	2 models	Alliance of Genome Resources
			glycine encephalopathy	SLC6A9	Slc6a9*	1 model	Alliance of Genome Resources
			glycogen storage disease I	G6PC1	G6pc*	4 models	Alliance of Genome Resources
			glycogen storage disease I	SLC37A4	Slc37a4*	1 model	Alliance of Genome Resources
			glycogen storage disease V	HIF1A	Hif1a*	1 model	Alliance of Genome Resources
			glycogen storage disease VII	HIF1A	Hif1a*	1 model	Alliance of Genome Resources
			glycoproteinosis	NEU1	Neu1*	2 models	Alliance of Genome Resources
			hemochromatosis	B2M	B2m*	1 model	Alliance of Genome Resources
			hemochromatosis	HMOX1	Hmox1*	1 model	Alliance of Genome Resources
			hyperinsulinemic hypoglycemia	GCK	Gck*	1 model	Alliance of Genome Resources
			hyperinsulinemic hypoglycemia	ABCC8	Abcc8*	1 model	Alliance of Genome Resources
			hyperphosphatemic familial tumoral calcinosis	KL	Kl*	2 models	Alliance of Genome Resources
			hyperphosphatemic familial tumoral calcinosis	GALNT3	Galnt3*	2 models	Alliance of Genome Resources
			hypokalemic periodic paralysis	SCN4A	Scn4a*	1 model	Alliance of Genome Resources
			inherited metabolic disorder	MOCS2	Mocs2*	1 model	Alliance of Genome Resources
			Krabbe disease	PSAP	Psap*	1 model	Alliance of Genome Resources
			Leigh disease	SOD2	Sod2*	1 model	Alliance of Genome Resources
			Leigh disease	SDHC	Sdhc*	1 model	Alliance of Genome Resources
			Leigh disease	PARL	Parl*	2 models	Alliance of Genome Resources
			lysosomal storage disease	SLC17A5	Slc17a5*	1 model	Alliance of Genome Resources
			maple syrup urine disease	BCAT2	Bcat2*	1 model	Alliance of Genome Resources
			maturity-onset diabetes of the young	PDX1	Pdx1*	1 model	Alliance of Genome Resources
			maturity-onset diabetes of the young	INS	Ins2*, Ins1	3 models	Alliance of Genome Resources
			maturity-onset diabetes of the young	MAFA	Mafa*	1 model	Alliance of Genome Resources
			maturity-onset diabetes of the young	TGM2	Tgm2*	1 model	Alliance of Genome Resources
			metachromatic leukodystrophy	PSAP	Psap*	1 model	Alliance of Genome Resources
			methylmalonic aciduria and homocystinuria type cblC	THAP11	Thap11*	1 model	Alliance of Genome Resources
			mitochondrial complex I deficiency	AIFM1	Aifm1*	2 models	Alliance of Genome Resources
			mitochondrial complex I deficiency	NDUFS6	Ndufs6*, Ndufs6b	1 model	Alliance of Genome Resources
			mitochondrial complex I deficiency	NDUFS4	Ndufs4*	1 model	Alliance of Genome Resources
			mitochondrial complex I deficiency	NDUFA1	Ndufa1*	1 model	Alliance of Genome Resources
			mitochondrial DNA depletion syndrome 3	MPV17	Mpv17*	1 model	Alliance of Genome Resources
			mitochondrial metabolism disease	UQCRFS1, UQCRFS1P1	Uqcrfs1*	1 model	Alliance of Genome Resources
			mitochondrial metabolism disease	TRNK	mt-Tk*	1 model	Alliance of Genome Resources
			mucopolysaccharidosis	ARSG	Arsg*	1 model	Alliance of Genome Resources
			mucopolysaccharidosis III	HGSNAT	Hgsnat*	1 model	Alliance of Genome Resources
			mucopolysaccharidosis IV	GALNS	Galns*	2 models	Alliance of Genome Resources
neonatal diabetes	INS	Ins2*, Ins1	1 model	Alliance of Genome Resources
neuronal ceroid lipofuscinosis	PPT2	Ppt2*	1 model	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3	PPT1	Ppt1*	1 model	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3	CLCN6	Clcn6*	1 model	Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3	CLCN3	Clcn3*	1 model	Alliance of Genome Resources
Niemann-Pick disease	NPC1	Npc1*	17 models	Alliance of Genome Resources
Niemann-Pick disease		fm*	1 model
non-alcoholic fatty liver disease	ALDH1L2	Aldh1l2*	1 model	Alliance of Genome Resources
non-alcoholic fatty liver disease		Iigp1c*	3 models
non-alcoholic fatty liver disease	LEP	Lep*	1 model	Alliance of Genome Resources
non-alcoholic fatty liver disease	NLRP3	Nlrp3*	1 model	Alliance of Genome Resources
non-alcoholic fatty liver disease	PGRMC1	Pgrmc1*	1 model	Alliance of Genome Resources
non-alcoholic fatty liver disease	PPDPF	Ppdpf*	1 model	Alliance of Genome Resources
non-alcoholic fatty liver disease	SIDT2	Sidt2*	1 model	Alliance of Genome Resources
non-alcoholic steatohepatitis	MC4R	Mc4r*	1 model	Alliance of Genome Resources
non-alcoholic steatohepatitis	KRT18	Krt18*	1 model	Alliance of Genome Resources
peroxisomal disease	ACBD5	Acbd5*	1 model	Alliance of Genome Resources
phenylketonuria		hph1*	1 model
phenylketonuria	HNF1A	Hnf1a*	1 model	Alliance of Genome Resources
primary hyperoxaluria	HOGA1	Hoga1*	1 model	Alliance of Genome Resources
pseudohypoparathyroidism	GNAS-AS1	Gnasas1*	2 models	Alliance of Genome Resources
sarcosinemia		sar*	1 model
transient neonatal diabetes mellitus	ABCC8	Abcc8*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	CDK4	Cdk4*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	E2F1	E2f1*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	FASLG	Fasl*	3 models	Alliance of Genome Resources
type 1 diabetes mellitus	G6PC2	G6pc2*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	IFNG	Ifng*	2 models	Alliance of Genome Resources
type 1 diabetes mellitus	IFNGR2	Ifngr2*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	IGHM	Ighm*	5 models	Alliance of Genome Resources
type 1 diabetes mellitus	IL4	Il4*	2 models	Alliance of Genome Resources
type 1 diabetes mellitus	IRAK3	Irak3*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	MBD2	Mbd2*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	NOS2	Nos2*	5 models	Alliance of Genome Resources
type 1 diabetes mellitus	PDX1	Pdx1*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	PRF1	Prf1*	2 models	Alliance of Genome Resources
type 1 diabetes mellitus	SELL	Sell*	4 models	Alliance of Genome Resources
type 1 diabetes mellitus	SENP1	Senp1*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	STAT4	Stat4*	4 models	Alliance of Genome Resources
type 1 diabetes mellitus	TNFSF4	Tnfsf4*	1 model	Alliance of Genome Resources
type 1 diabetes mellitus 2	IGF2	Igf2*	3 models	Alliance of Genome Resources
type 1 diabetes mellitus 7	NEUROD1	Neurod1*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	ASIP	a*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	AR	Ar*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	CTF1	Ctf1*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	FEM1B	Fem1b*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	FOXM1	Foxm1*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	GADD45GIP1	Gadd45gip1*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	HTR2C	Htr2c*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	MADD	Madd*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	MAFA	Mafa*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	NFE2L1	Nfe2l1*	2 models	Alliance of Genome Resources
type 2 diabetes mellitus	PHOX2A	Phox2a*	2 models	Alliance of Genome Resources
type 2 diabetes mellitus	PPP1R3C	Ppp1r3c*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	PRKCI	Prkci*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	SDHB	Sdhb*	1 model	Alliance of Genome Resources
type 2 diabetes mellitus	SNAP25	Snap25*	1 model	Alliance of Genome Resources
very long chain acyl-CoA dehydrogenase deficiency	ACADL	Acadl*	1 model	Alliance of Genome Resources
Zellweger syndrome	PEX1	Pex1*	2 models	Alliance of Genome Resources
Zellweger syndrome	PEX11B	Pex11b*	3 models	Alliance of Genome Resources
			2-hydroxyglutaric aciduria	L2HGDH*	L2hgdh		Alliance of Genome Resources
			2-hydroxyglutaric aciduria	SLC25A1*	Slc25a1		Alliance of Genome Resources
			3-Methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1*	Mccc1		Alliance of Genome Resources
			3-Methylcrotonyl-CoA carboxylase 2 deficiency	MCCC2*	Mccc2		Alliance of Genome Resources
			3-methylglutaconic aciduria type 1	AUH*	Auh		Alliance of Genome Resources
			3-methylglutaconic aciduria type 5	DNAJC19*	Dnajc19, Dnajc19-ps		Alliance of Genome Resources
			3-methylglutaconic aciduria type 7a	CLPB*	Clpb		Alliance of Genome Resources
			3-methylglutaconic aciduria type 7b	CLPB*	Clpb		Alliance of Genome Resources
			3-methylglutaconic aciduria type 8	HTRA2*	Htra2		Alliance of Genome Resources
			3-methylglutaconic aciduria type 9	TIMM50*	Timm50		Alliance of Genome Resources
			abetalipoproteinemia	MTTP*	Mttp		Alliance of Genome Resources
			acatalasia	CAT*	Cat	1 "NOT" model	Alliance of Genome Resources
			adenylosuccinase lyase deficiency	ADSL*	Adsl		Alliance of Genome Resources
			adult-onset type II citrullinemia	SLC25A13*	Slc25a13		Alliance of Genome Resources
			AGAT deficiency	GATM*	Gatm		Alliance of Genome Resources
			Alpers-Huttenlocher syndrome	POLG*	Polg		Alliance of Genome Resources
			alpha 1-antitrypsin deficiency	SERPINA1*	Serpina1a, Serpina1b, Serpina1c, Serpina1d, Serpina1e	1 model	Alliance of Genome Resources
			amino acid metabolic disorder	SLC25A15*	Slc25a15		Alliance of Genome Resources
			amino acid metabolic disorder	PCCA*	Pcca		Alliance of Genome Resources
			amino acid metabolic disorder	NAGS*	Nags		Alliance of Genome Resources
			amino acid metabolic disorder	IVD*	Ivd		Alliance of Genome Resources
			amino acid metabolic disorder	HMGCL*	Hmgcl		Alliance of Genome Resources
			amino acid metabolic disorder	GAMT*	Gamt		Alliance of Genome Resources
			amino acid metabolic disorder	CTH*	Cth		Alliance of Genome Resources
			amino acid metabolic disorder	ASL*	Asl		Alliance of Genome Resources
			amino acid metabolic disorder	PCCB*	Pccb		Alliance of Genome Resources
			amino acid metabolic disorder	PHGDH*	Phgdh		Alliance of Genome Resources
			amino acid metabolic disorder	PRODH*	Prodh		Alliance of Genome Resources
			apolipoprotein C-III deficiency	APOC3*	Apoc3		Alliance of Genome Resources
			apparent mineralocorticoid excess syndrome	HSD11B2*	Hsd11b2		Alliance of Genome Resources
			APP-related cerebral amyloid angiopathy	APP*	App		Alliance of Genome Resources
			atypical Gaucher's disease due to saposin c deficiency	PSAP*	Psap		Alliance of Genome Resources
			autosomal dominant hypocalcemia	CASR*	Casr		Alliance of Genome Resources
			beta-ketothiolase deficiency	ACAT1*	Acat1		Alliance of Genome Resources
			BH4-deficient hyperphenylalaninemia C	QDPR*	Qdpr		Alliance of Genome Resources
			BH4-deficient hyperphenylalaninemia D	PCBD1*	Pcbd1		Alliance of Genome Resources
			bilirubin metabolic disorder	SLCO1B1*, SLCO1B3*, SLCO1B7	Slco1b2		Alliance of Genome Resources
			bilirubin metabolic disorder	UGT1A1*	Ugt1a1		Alliance of Genome Resources
			bilirubin metabolic disorder	ABCC2*	Abcc2		Alliance of Genome Resources
			bilirubin metabolic disorder	HGF*	Hgf		Alliance of Genome Resources
			bilirubin metabolic disorder	SOD2*	Sod2		Alliance of Genome Resources
			carbohydrate metabolic disorder	MPI*	Mpi		Alliance of Genome Resources
			carbohydrate metabolic disorder	ACAT1*	Acat1		Alliance of Genome Resources
			carbohydrate metabolic disorder	SLC2A1*	Slc2a1		Alliance of Genome Resources
			carbohydrate metabolic disorder	TALDO1*	Taldo1		Alliance of Genome Resources
			carbohydrate metabolic disorder	TPI1*	Tpi1		Alliance of Genome Resources
			carboxypeptidase N deficiency	CPN1*	Cpn1		Alliance of Genome Resources
			carnitine-acylcarnitine translocase deficiency	SLC25A20*	Slc25a20		Alliance of Genome Resources
			cerebral amyloid angiopathy	OLR1*	Olr1		Alliance of Genome Resources
			cerebral amyloid angiopathy	MME*	Mme		Alliance of Genome Resources
			cerebral folate receptor alpha deficiency	FOLR1*	Folr1		Alliance of Genome Resources
			cerebrotendinous xanthomatosis	CYP27A1*	Cyp27a1		Alliance of Genome Resources
			cholesterol ester storage disease	LIPA*	Lipa		Alliance of Genome Resources
			citrullinemia	SLC25A15*	Slc25a15		Alliance of Genome Resources
			CK syndrome	NSDHL*	Nsdhl		Alliance of Genome Resources
			classic citrullinemia	ASS1*	Ass1		Alliance of Genome Resources
			classic galactosemia	GALT*	Galt		Alliance of Genome Resources
			combined D-2- and L-2-hydroxyglutaric aciduria	SLC25A1*	Slc25a1		Alliance of Genome Resources
			combined malonic and methylmalonic acidemia	ACSF3*	Acsf3		Alliance of Genome Resources
			combined oxidative phosphorylation deficiency	NFS1*	Nfs1		Alliance of Genome Resources
			combined oxidative phosphorylation deficiency	PRORP*	Prorp		Alliance of Genome Resources
			combined oxidative phosphorylation deficiency	C2orf69*	1700066M21Rik		Alliance of Genome Resources
			combined oxidative phosphorylation deficiency	FASTKD2*	Fastkd2		Alliance of Genome Resources
			combined oxidative phosphorylation deficiency 1	GFM1*	Gfm1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 10	MTO1*	Mto1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 11	RMND1*	Rmnd1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 12	EARS2*	Ears2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 13	PNPT1*	Pnpt1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 14	FARS2*	Fars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 15	MTFMT*	Mtfmt		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 16	MRPL44*	Mrpl44		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 17	ELAC2*	Elac2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 18	SFXN4*	Sfxn4		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 19	LYRM4*	Lyrm4		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 2	MRPS16*	Mrps16		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 20	VARS2*	Vars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 21	TARS2*	Tars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 22	ATP5F1A*	Atp5a1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 23	GTPBP3*	Gtpbp3		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 24	NARS2*	Nars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 25	MARS2*	Mars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 26	TRMT5*	Trmt5		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 27	CARS2*	Cars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 28	SLC25A26*	Slc25a26		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 29	TXN2*	Txn2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 3	TSFM*	Tsfm		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 30	TRMT10C*	Trmt10c		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 31	MIPEP*	Mipep		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 32	MRPS34*	Mrps34		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 33	C1QBP*	C1qbp		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 34	MRPS7*	Mrps7		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 35	TRIT1*	Trit1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 36	MRPS2*	Mrps2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 37	MICOS13*	Micos13		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 38	MRPS14*	Mrps14		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 39	GFM2*	Gfm2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 4	TUFM*	Tufm		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 40	QRSL1*	Qrsl1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 41	GATB*	Gatb		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 42	GATC*	Gatc		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 43	TIMM22*	Timm22		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 45	MRPL12*	Mrpl12		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 46	MRPS23*	Mrps23		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 47	MRPS28*	Mrps28		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 48	NSUN3*	Nsun3		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 49	MIEF2*	Mief2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 5	MRPS22*	Mrps22		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 50	MRPS25*	Mrps25		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 51	PTCD3*	Ptcd3		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 6	AIFM1*	Aifm1		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 7	MTRFR*	Mtrfr		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 8	AARS2*	Aars2		Alliance of Genome Resources
combined oxidative phosphorylation deficiency 9	MRPL3*	Mrpl3		Alliance of Genome Resources
congenital adrenal hyperplasia	CYP11A1*	Cyp11a1		Alliance of Genome Resources
congenital adrenal hyperplasia	CYP17A1*	Cyp17a1		Alliance of Genome Resources
congenital adrenal hyperplasia	CYP21A2*, CYP21A1P	Cyp21a1		Alliance of Genome Resources
congenital adrenal hyperplasia	POR*	Por		Alliance of Genome Resources
congenital bile acid synthesis defect 1	HSD3B7*	Hsd3b7		Alliance of Genome Resources
congenital bile acid synthesis defect 2	AKR1D1*	Akr1d1		Alliance of Genome Resources
congenital bile acid synthesis defect 3	CYP7B1*	Cyp7b1		Alliance of Genome Resources
congenital bile acid synthesis defect 4	AMACR*	Amacr		Alliance of Genome Resources
congenital bile acid synthesis defect 6	ACOX2*	Acox2		Alliance of Genome Resources
congenital disorder of glycosylation	PMM2*	Pmm2		Alliance of Genome Resources
congenital disorder of glycosylation	B4GALT1*	B4galt1		Alliance of Genome Resources
congenital disorder of glycosylation Ia	PMM2*	Pmm2		Alliance of Genome Resources
congenital disorder of glycosylation Iaa	NUS1*	Nus1		Alliance of Genome Resources
congenital disorder of glycosylation Ib	MPI*	Mpi		Alliance of Genome Resources
congenital disorder of glycosylation Ic	ALG6*	Alg6		Alliance of Genome Resources
congenital disorder of glycosylation Icc	MAGT1*	Magt1		Alliance of Genome Resources
congenital disorder of glycosylation Id	ALG3*	Alg3		Alliance of Genome Resources
congenital disorder of glycosylation Ie	DPM1*	Dpm1		Alliance of Genome Resources
congenital disorder of glycosylation If	MPDU1*	Mpdu1		Alliance of Genome Resources
congenital disorder of glycosylation Ig	ALG12*	Alg12		Alliance of Genome Resources
congenital disorder of glycosylation Ih	ALG8*	Alg8		Alliance of Genome Resources
congenital disorder of glycosylation Ii	ALG2*	Alg2		Alliance of Genome Resources
congenital disorder of glycosylation Ij	DPAGT1*	Dpagt1		Alliance of Genome Resources
congenital disorder of glycosylation Ik	ALG1*, ALG1L1P, ALG1L2	Alg1		Alliance of Genome Resources
congenital disorder of glycosylation Il	ALG9*	Alg9		Alliance of Genome Resources
congenital disorder of glycosylation Im	DOLK*	Dolk		Alliance of Genome Resources
congenital disorder of glycosylation In	RFT1*	Rft1		Alliance of Genome Resources
congenital disorder of glycosylation Ip	ALG11*	Alg11		Alliance of Genome Resources
congenital disorder of glycosylation Iq	SRD5A3*	Srd5a3		Alliance of Genome Resources
congenital disorder of glycosylation Ir	DDOST*	Ddost		Alliance of Genome Resources
congenital disorder of glycosylation It	PGM1*	Pgm1		Alliance of Genome Resources
congenital disorder of glycosylation Iu	DPM2*	Dpm2		Alliance of Genome Resources
congenital disorder of glycosylation Iw	STT3A*	Stt3a		Alliance of Genome Resources
congenital disorder of glycosylation Ix	STT3B*	Stt3b		Alliance of Genome Resources
congenital disorder of glycosylation Iy	SSR4*	Ssr4		Alliance of Genome Resources
congenital disorder of glycosylation type I	DPM3*	Dpm3		Alliance of Genome Resources
congenital disorder of glycosylation type II	SLC37A4*	Slc37a4		Alliance of Genome Resources
congenital disorder of glycosylation type II	GALNT2*	Galnt2		Alliance of Genome Resources
congenital disorder of glycosylation type II	EDEM3*	Edem3		Alliance of Genome Resources
congenital disorder of glycosylation type II	ATP6AP2*	Atp6ap2		Alliance of Genome Resources
congenital disorder of glycosylation type IIb	MOGS*	Mogs		Alliance of Genome Resources
congenital disorder of glycosylation type IId	B4GALT1*	B4galt1		Alliance of Genome Resources
congenital disorder of glycosylation type IIe	COG7*	Cog7		Alliance of Genome Resources
congenital disorder of glycosylation type IIf	SLC35A1*	Slc35a1		Alliance of Genome Resources
congenital disorder of glycosylation type IIg	COG1*	Cog1		Alliance of Genome Resources
congenital disorder of glycosylation type IIh	COG8*	Cog8		Alliance of Genome Resources
congenital disorder of glycosylation type IIi	COG5*	Cog5		Alliance of Genome Resources
congenital disorder of glycosylation type IIj	COG4*	Cog4		Alliance of Genome Resources
congenital disorder of glycosylation type IIk	TMEM165*	Tmem165		Alliance of Genome Resources
congenital disorder of glycosylation type IIl	COG6*	Cog6		Alliance of Genome Resources
congenital disorder of glycosylation type IIm	SLC35A2*	Slc35a2		Alliance of Genome Resources
congenital disorder of glycosylation type IIn	SLC39A8*	Slc39a8		Alliance of Genome Resources
congenital disorder of glycosylation type IIo	CCDC115*	Ccdc115		Alliance of Genome Resources
congenital disorder of glycosylation type IIp	TMEM199*	Tmem199		Alliance of Genome Resources
congenital disorder of glycosylation type IIq	COG2*	Cog2		Alliance of Genome Resources
congenital intrinsic factor deficiency	CBLIF*	Cblif		Alliance of Genome Resources
congenital lactase deficiency	LCT*	Lct		Alliance of Genome Resources
congenital sucrase-isomaltase deficiency	SI*	Sis		Alliance of Genome Resources
Crigler-Najjar syndrome	UGT1A1*	Ugt1a1		Alliance of Genome Resources
CST3-related cerebral amyloid angiopathy	CST3*	Cst3		Alliance of Genome Resources
cutaneous porphyria	ALAS2*	Alas2		Alliance of Genome Resources
cutaneous porphyria	FECH*	Fech		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	NDUFA4*	Ndufa4		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	PET100*	Pet100		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	PET117*	Pet117		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	SURF1*	Surf1		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	TACO1*	Taco1		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	COX6B1*	Cox6b1		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	COX8A*	Cox8a		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	COX5A*	Cox5a		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	COX4I1*	Cox4i1		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	COA8*	Coa8		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	COA3*	Coa3		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	COX14*	Cox14		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	COX20*	Cox20		Alliance of Genome Resources
cytochrome-c oxidase deficiency disease	COX6A2*	Cox6a2		Alliance of Genome Resources
cytochrome P450 oxidoreductase deficiency	POR*	Por		Alliance of Genome Resources
D-2-hydroxyglutaric aciduria 1	D2HGDH*	D2hgdh		Alliance of Genome Resources
D-2-hydroxyglutaric aciduria 2	IDH2*	Idh2		Alliance of Genome Resources
deafness-dystonia-optic neuronopathy syndrome	TIMM8A*	Timm8a1		Alliance of Genome Resources
D-glyceric aciduria	GLYCTK*	Glyctk		Alliance of Genome Resources
diabetes mellitus	GSTM1*, GSTM5	Gstm1, Gstm2, Gstm3, Gstm6		Alliance of Genome Resources
diabetes mellitus	WFS1*	Wfs1		Alliance of Genome Resources
diabetes mellitus	UCP3*	Ucp3		Alliance of Genome Resources
diabetes mellitus	TLR4*	Tlr4		Alliance of Genome Resources
diabetes mellitus	TCF7L2*	Tcf7l2		Alliance of Genome Resources
diabetes mellitus	SOD3*	Sod3		Alliance of Genome Resources
diabetes mellitus	SLC19A2*	Slc19a2		Alliance of Genome Resources
diabetes mellitus	PTPN22*	Ptpn22		Alliance of Genome Resources
diabetes mellitus	NAT2*, NAT1	Nat1, Nat2, Nat3		Alliance of Genome Resources
diabetes mellitus	ND4L*	mt-Nd4l		Alliance of Genome Resources
diabetes mellitus	KCNJ11*	Kcnj11		Alliance of Genome Resources
diabetes mellitus	ITGA2*	Itga2		Alliance of Genome Resources
diabetes mellitus	INSR*	Insr		Alliance of Genome Resources
diabetes mellitus	INS*	Ins1, Ins2		Alliance of Genome Resources
diabetes mellitus	IL6*	Il6		Alliance of Genome Resources
diabetes mellitus	HMGCR*	Hmgcr		Alliance of Genome Resources
diabetes mellitus	HFE*	Hfe		Alliance of Genome Resources
diabetes mellitus	ACP1*	Acp1		Alliance of Genome Resources
diabetes mellitus	APOE*	Apoe		Alliance of Genome Resources
diabetes mellitus	CDKAL1*	Cdkal1		Alliance of Genome Resources
diabetes mellitus	CSF1R*	Csf1r		Alliance of Genome Resources
diabetes mellitus	CTSB*	Ctsb		Alliance of Genome Resources
diabetes mellitus	CYP1A1*	Cyp1a1		Alliance of Genome Resources
diabetes mellitus	CYP2C9*, CYP2C8, CYP2C18, CYP2C19	Cyp2c29, Cyp2c37, Cyp2c38, Cyp2c39, Cyp2c50, Cyp2c55, Cyp2c65, Cyp2c66		Alliance of Genome Resources
diabetes mellitus	CYP11B2*, CYP11B1	Cyp11b1, Cyp11b2		Alliance of Genome Resources
diabetes mellitus	G6PD*	G6pd2, G6pdx		Alliance of Genome Resources
diabetes mellitus	GCK*	Gck		Alliance of Genome Resources
diabetes mellitus	GIPR*	Gipr		Alliance of Genome Resources
diabetes mellitus	GSTT1*	Gstt1		Alliance of Genome Resources
dihydropyrimidinase deficiency	DPYS*	Dpys		Alliance of Genome Resources
dihydropyrimidine dehydrogenase deficiency	DPYD*	Dpyd		Alliance of Genome Resources
dopamine beta-hydroxylase deficiency	HSPA5*	Hspa5		Alliance of Genome Resources
Dubin-Johnson syndrome	ABCC2*	Abcc2		Alliance of Genome Resources
erythropoietic protoporphyria	ALAS2*	Alas2		Alliance of Genome Resources
erythropoietic protoporphyria	CLPX*	Clpx		Alliance of Genome Resources
essential fructosuria	KHK*	Khk		Alliance of Genome Resources
Fabry disease	AGT*	Agt		Alliance of Genome Resources
Fabry disease	VDR*	Vdr		Alliance of Genome Resources
Fabry disease	IL1A*	Il1a		Alliance of Genome Resources
Fabry disease	ACE*	Ace		Alliance of Genome Resources
familial apolipoprotein A5 deficiency	APOA5*	Apoa5		Alliance of Genome Resources
familial apolipoprotein C-II deficiency	APOC2*	Apoc2, Apoc2l		Alliance of Genome Resources
familial combined hyperlipidemia	ADD1*	Add1		Alliance of Genome Resources
familial combined hyperlipidemia	APOC3*	Apoc3	1 model	Alliance of Genome Resources
familial combined hyperlipidemia	APOE*	Apoe	1 model	Alliance of Genome Resources
familial combined hyperlipidemia	HNF4A*	Hnf4a		Alliance of Genome Resources
familial combined hyperlipidemia	LPL*	Lpl	1 model	Alliance of Genome Resources
familial combined hyperlipidemia	LIPC*	Lipc		Alliance of Genome Resources
familial GPIHBP1 deficiency	GPIHBP1*	Gpihbp1		Alliance of Genome Resources
familial hypercholesterolemia	ADRB2*	Adrb2		Alliance of Genome Resources
familial hypercholesterolemia	APOA1*	Apoa1		Alliance of Genome Resources
familial hypercholesterolemia	APOA2*	Apoa2		Alliance of Genome Resources
familial hypercholesterolemia	APOB*	Apob		Alliance of Genome Resources
familial hypercholesterolemia	EPHX2*	Ephx2		Alliance of Genome Resources
familial hypercholesterolemia	GHR*	Ghr		Alliance of Genome Resources
familial hypercholesterolemia	PON2*	Pon2		Alliance of Genome Resources
familial hypercholesterolemia	MTTP*	Mttp		Alliance of Genome Resources
familial hypercholesterolemia	PPP1R17*	Ppp1r17		Alliance of Genome Resources
familial hypercholesterolemia	PCSK9*	Pcsk9	1 model	Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 1	ABCC8*	Abcc8		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 2	KCNJ11*	Kcnj11		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 4	HADH*	Hadh		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 5	INSR*	Insr		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 6	GLUD1*, GLUD2	Glud1		Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 7	SLC16A1*	Slc16a1		Alliance of Genome Resources
familial hyperlipidemia	ABCG8*	Abcg8		Alliance of Genome Resources
familial hyperlipidemia	ABCB1*	Abcb1a, Abcb1b		Alliance of Genome Resources
familial hyperlipidemia	APOB*	Apob		Alliance of Genome Resources
familial hyperlipidemia	LPL*	Lpl		Alliance of Genome Resources
familial hyperlipidemia	HSPA1B*, HSPA1A	Hspa1a, Hspa1b		Alliance of Genome Resources
familial hyperlipidemia	GNB3*	Gnb3		Alliance of Genome Resources
familial hyperlipidemia	CCL2*, CCL13	Ccl2, Ccl12		Alliance of Genome Resources
familial hyperlipidemia	APOC2*	Apoc2, Apoc2l		Alliance of Genome Resources
familial hypertryptophanemia	TDO2*	Tdo2		Alliance of Genome Resources
familial hypobetalipoproteinemia 1	APOB*	Apob		Alliance of Genome Resources
familial hypobetalipoproteinemia 2	ANGPTL3*	Angptl3		Alliance of Genome Resources
familial hypocalciuric hypercalcemia 2	GNA11*	Gna11		Alliance of Genome Resources
familial hypocalciuric hypercalcemia 3	AP2S1*	Ap2s1		Alliance of Genome Resources
familial lipase maturation factor 1 deficiency	LMF1*	Lmf1		Alliance of Genome Resources
familial periodic paralysis	KCNJ2*	Kcnj2		Alliance of Genome Resources
familial visceral amyloidosis	LYZ*	Lyz1, Lyz2, Lyz3		Alliance of Genome Resources
familial visceral amyloidosis	FGA*	Fga		Alliance of Genome Resources
familial visceral amyloidosis	B2M*	B2m		Alliance of Genome Resources
familial visceral amyloidosis	APOA1*	Apoa1		Alliance of Genome Resources
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1	SCO2*	Sco2		Alliance of Genome Resources
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2	COX15*	Cox15		Alliance of Genome Resources
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3	COA5*	Coa5		Alliance of Genome Resources
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4	COA6*	Coa6		Alliance of Genome Resources
fatty liver disease	ADRB2*	Adrb2		Alliance of Genome Resources
fatty liver disease	CYP2E1*	Cyp2e1		Alliance of Genome Resources
fatty liver disease	HADHA*	Hadha		Alliance of Genome Resources
fatty liver disease	MTHFR*	Mthfr		Alliance of Genome Resources
fatty liver disease	PNPLA3*	Pnpla3		Alliance of Genome Resources
fatty liver disease	VDR*	Vdr		Alliance of Genome Resources
fatty liver disease	PRKCD*	Prkcd		Alliance of Genome Resources
Finnish type amyloidosis	GSN*	Gsn	2 models	Alliance of Genome Resources
French Canadian Leigh disease	LRPPRC*	Lrpprc		Alliance of Genome Resources
fructose-1,6-bisphosphatase deficiency	FBP1*	Fbp1		Alliance of Genome Resources
fumarase deficiency	FH*	Fh1		Alliance of Genome Resources
GABA aminotransferase deficiency	ABAT*	Abat		Alliance of Genome Resources
galactokinase deficiency	GALK1*	Galk1		Alliance of Genome Resources
galactose epimerase deficiency	GALE*	Gale		Alliance of Genome Resources
galactosemia	GALM*	Galm		Alliance of Genome Resources
galactosialidosis	CTSA*	Ctsa		Alliance of Genome Resources
gamma-glutamyl transpeptidase deficiency	GGT1*, GGT2P, GGT3P, GGTLC1, GGTLC2, GGTLC3	Ggt1		Alliance of Genome Resources
Gaucher's disease	TNF*	Tnf		Alliance of Genome Resources
Gaucher's disease	PKLR*	Pklr		Alliance of Genome Resources
Gaucher's disease perinatal lethal	GBA1*	Gba		Alliance of Genome Resources
Gaucher's disease type III	GBA1*	Gba		Alliance of Genome Resources
Gaucher's disease type IIIC	GBA1*	Gba		Alliance of Genome Resources
gestational diabetes	GAD2*	Gad2		Alliance of Genome Resources
gestational diabetes	GCK*	Gck		Alliance of Genome Resources
gestational diabetes	CDKAL1*	Cdkal1		Alliance of Genome Resources
gestational diabetes	HNF1A*	Hnf1a		Alliance of Genome Resources
gestational diabetes	IL6*	Il6		Alliance of Genome Resources
gestational diabetes	INSR*	Insr		Alliance of Genome Resources
gestational diabetes	TCF7L2*	Tcf7l2		Alliance of Genome Resources
gestational diabetes	UTS2*	Uts2		Alliance of Genome Resources
Gilbert syndrome	UGT1A1*	Ugt1a1		Alliance of Genome Resources
glucose intolerance	NEUROD1*	Neurod1		Alliance of Genome Resources
glucose intolerance	HNF1A*	Hnf1a		Alliance of Genome Resources
glucose intolerance	HLA-DQA1*, HLA-DQA2	H2-Aa		Alliance of Genome Resources
glucose intolerance	PON1*	Pon1		Alliance of Genome Resources
glucose intolerance	HSPD1*	Hspd1		Alliance of Genome Resources
glucose intolerance	PAX6*	Pax6		Alliance of Genome Resources
glucose intolerance	APOC3*	Apoc3		Alliance of Genome Resources
glucose intolerance	NEUROG3*	Neurog3		Alliance of Genome Resources
glucosephosphate dehydrogenase deficiency	IFNG*	Ifng		Alliance of Genome Resources
glucosephosphate dehydrogenase deficiency	IL6*	Il6		Alliance of Genome Resources
glucosephosphate dehydrogenase deficiency	IL10*	Il10		Alliance of Genome Resources
glutamate-cysteine ligase deficiency	GCLC*	Gclc		Alliance of Genome Resources
glutamate formiminotransferase deficiency	FTCD*	Ftcd		Alliance of Genome Resources
glutathione synthetase deficiency	GSS*	Gss		Alliance of Genome Resources
glutathione synthetase deficiency of erythrocytes	GSS*	Gss		Alliance of Genome Resources
glutatione synthetase deficiency with 5-oxoprolinuria	GSS*	Gss		Alliance of Genome Resources
glycine encephalopathy	AMT*	Amt		Alliance of Genome Resources
glycine encephalopathy	GCSH*	Gcsh		Alliance of Genome Resources
glycogen storage disease	PHKA1*	Phka1		Alliance of Genome Resources
glycogen storage disease	SLC2A2*	Slc2a2		Alliance of Genome Resources
glycogen storage disease	PHKA2*	Phka2		Alliance of Genome Resources
glycogen storage disease	PHKG2*	Phkg2		Alliance of Genome Resources
glycogen storage disease	RBCK1*	Rbck1		Alliance of Genome Resources
glycogen storage disease	PYGL*	Pygl		Alliance of Genome Resources
glycogen storage disease	PRKAG2*	Prkag2		Alliance of Genome Resources
glycogen storage disease	GYS2*	Gys2		Alliance of Genome Resources
glycogen storage disease	GYG1*	Gyg		Alliance of Genome Resources
glycogen storage disease IXa	PHKA2*	Phka2		Alliance of Genome Resources
glycogen storage disease IXc	PHKG2*	Phkg2		Alliance of Genome Resources
glycoproteinosis	GNPTG*	Gnptg		Alliance of Genome Resources
glycoproteinosis	MCOLN1*	Mcoln1		Alliance of Genome Resources
GM1 gangliosidosis type 1	GLB1*	Glb1		Alliance of Genome Resources
GM1 gangliosidosis type 2	GLB1*	Glb1		Alliance of Genome Resources
GM1 gangliosidosis type 3	GLB1*	Glb1		Alliance of Genome Resources
GM2 gangliosidosis	GM2A*	Gm2a		Alliance of Genome Resources
Gordon Holmes syndrome	RNF216*	Rnf216		Alliance of Genome Resources
Greenberg dysplasia	LBR*	Lbr		Alliance of Genome Resources
hawkinsinuria	HPD*	Hpd		Alliance of Genome Resources
Heimler syndrome 1	PEX1*	Pex1		Alliance of Genome Resources
Heimler syndrome 2	PEX6*	Pex6		Alliance of Genome Resources
hemochromatosis	HFE*	Hfe		Alliance of Genome Resources
hemochromatosis	HJV*	Hjv		Alliance of Genome Resources
hemochromatosis	TFR2*	Tfr2		Alliance of Genome Resources
hemochromatosis	TNF*	Tnf		Alliance of Genome Resources
hemochromatosis	HAMP*	Hamp, Hamp2		Alliance of Genome Resources
hemochromatosis	ALAS2*	Alas2		Alliance of Genome Resources
hemochromatosis type 1	BMP2*	Bmp2		Alliance of Genome Resources
hemochromatosis type 5	FTH1*	Fth1		Alliance of Genome Resources
hereditary folate malabsorption	SLC46A1*	Slc46a1		Alliance of Genome Resources
hereditary fructose intolerance syndrome	ALDOB*	Aldob		Alliance of Genome Resources
histidinemia	HAL*	Hal		Alliance of Genome Resources
holocarboxylase synthetase deficiency	HLCS*	Hlcs		Alliance of Genome Resources
homocystinuria	MTRR*	Mtrr		Alliance of Genome Resources
homocystinuria-megaloblastic anemia cblE type	MTRR*	Mtrr		Alliance of Genome Resources
HRPT-related hyperuricemia	HPRT1*	Hprt		Alliance of Genome Resources
hydroxykynureninuria	KYNU*	Kynu		Alliance of Genome Resources
hyperalphalipoproteinemia 1	CETP*
hyperglycemia	CYP2C9*, CYP2C8, CYP2C18, CYP2C19	Cyp2c29, Cyp2c37, Cyp2c38, Cyp2c39, Cyp2c50, Cyp2c55, Cyp2c65, Cyp2c66		Alliance of Genome Resources
hyperglycemia	PON1*	Pon1		Alliance of Genome Resources
hyperglycemia	PDX1*	Pdx1		Alliance of Genome Resources
hyperglycemia	NEUROD1*	Neurod1		Alliance of Genome Resources
hyperglycemia	IL6*	Il6		Alliance of Genome Resources
hyperglycemia	HP*, HPR	Hp		Alliance of Genome Resources
hyperglycemia	GPX1*	Gpx1		Alliance of Genome Resources
hyperglycemia	SOD1*	Sod1		Alliance of Genome Resources
hyperglycemia	CCL11*	Ccl11		Alliance of Genome Resources
hyperglycemia	TF*	Trf		Alliance of Genome Resources
hyperhomocysteinemia	MTR*	Mtr		Alliance of Genome Resources
hyperhomocysteinemia	MTHFR*	Mthfr		Alliance of Genome Resources
hyperinsulinism	CDKN1C*	Cdkn1c		Alliance of Genome Resources
hyperinsulinism	ABCC8*	Abcc8		Alliance of Genome Resources
hyperinsulinism	MTTP*	Mttp		Alliance of Genome Resources
hyperinsulinism	LTA*	Lta		Alliance of Genome Resources
hyperinsulinism	GLUD1*, GLUD2	Glud1		Alliance of Genome Resources
hyperinsulinism	IL6*	Il6		Alliance of Genome Resources
hyperinsulinism	INS*	Ins1, Ins2		Alliance of Genome Resources
hyperinsulinism	AGT*	Agt		Alliance of Genome Resources
hyperinsulinism	KCNJ11*	Kcnj11		Alliance of Genome Resources
hyperinsulinism	PTPRF*	Ptprf		Alliance of Genome Resources
hyperinsulinism	GCK*	Gck		Alliance of Genome Resources
hyperinsulinism	PARL*	Parl		Alliance of Genome Resources
hyperlipoproteinemia type III	APOC3*	Apoc3		Alliance of Genome Resources
hyperlipoproteinemia type III	APOE*	Apoe		Alliance of Genome Resources
hyperlipoproteinemia type IV	APOA5*	Apoa5		Alliance of Genome Resources
hyperlipoproteinemia type V	APOA5*	Apoa5		Alliance of Genome Resources
hyperlysinemia	AASS*	Aass		Alliance of Genome Resources
hypermanganesemia with dystonia 1	SLC30A10*	Slc30a10		Alliance of Genome Resources
hypermanganesemia with dystonia 2	SLC39A14*	Slc39a14		Alliance of Genome Resources
hypermethioninemia	MAT1A*	Mat1a		Alliance of Genome Resources
hypermethioninemia due to adenosine kinase deficiency	ADK*	Adk		Alliance of Genome Resources
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	AHCY*	Ahcy, Ahcyl		Alliance of Genome Resources
hyperprolinemia type 1	PRODH*	Prodh		Alliance of Genome Resources
hyperprolinemia type 2	ALDH4A1*	Aldh4a1		Alliance of Genome Resources
hypobetalipoproteinemia	PCSK9*	Pcsk9		Alliance of Genome Resources
hypobetalipoproteinemia	APOB*	Apob		Alliance of Genome Resources
hypoglycemia	AKT2*	Akt2		Alliance of Genome Resources
hypoglycemia	UCP3*	Ucp3		Alliance of Genome Resources
hypoglycemia	PPP1R3A*	Ppp1r3a		Alliance of Genome Resources
hypoglycemia	HNF4A*	Hnf4a		Alliance of Genome Resources
hypoglycemia	GLUD1*, GLUD2	Glud1		Alliance of Genome Resources
hypoglycemia	GCK*	Gck		Alliance of Genome Resources
hypoglycemia	CYP2C9*, CYP2C8, CYP2C18, CYP2C19	Cyp2c29, Cyp2c37, Cyp2c38, Cyp2c39, Cyp2c50, Cyp2c55, Cyp2c65, Cyp2c66		Alliance of Genome Resources
hypoglycemia	AGTR2*	Agtr2		Alliance of Genome Resources
hypoinsulinemic hypoglycemia with hemihypertrophy	AKT2*	Akt2		Alliance of Genome Resources
hypokalemic periodic paralysis	KCNE3*	Kcne3		Alliance of Genome Resources
hypolipoproteinemia	APOA1*	Apoa1		Alliance of Genome Resources
hypolipoproteinemia	ABCA1*	Abca1		Alliance of Genome Resources
immunodeficiency 47	ATP6AP1*	Atp6ap1		Alliance of Genome Resources
inherited metabolic disorder	NDUFS2*	Ndufs2		Alliance of Genome Resources
inherited metabolic disorder	NDUFS1*	Ndufs1		Alliance of Genome Resources
inherited metabolic disorder	MMAB*	Mmab		Alliance of Genome Resources
inherited metabolic disorder	LIG1*	Lig1		Alliance of Genome Resources
inherited metabolic disorder	HSD11B2*	Hsd11b2		Alliance of Genome Resources
inherited metabolic disorder	GPHN*	Gphn		Alliance of Genome Resources
inherited metabolic disorder	FMO3*	Fmo3		Alliance of Genome Resources
inherited metabolic disorder	BCHE*	Bche		Alliance of Genome Resources
inherited metabolic disorder	DDC*	Ddc		Alliance of Genome Resources
inherited metabolic disorder	UQCRB*	Uqcrb		Alliance of Genome Resources
inherited metabolic disorder	TPK1*	Tpk1		Alliance of Genome Resources
inherited metabolic disorder	TBX19*	Tbx19		Alliance of Genome Resources
inherited metabolic disorder	SUOX*	Suox		Alliance of Genome Resources
inherited metabolic disorder	SLC25A19*	Slc25a19		Alliance of Genome Resources
inherited metabolic disorder	SLC22A5*	Slc22a5, Slc22a21		Alliance of Genome Resources
intestinal hypomagnesemia 1	TRPM6*	Trpm6		Alliance of Genome Resources
isolated elevated serum creatine phosphokinase levels	ANO5*	Ano5		Alliance of Genome Resources
isolated elevated serum creatine phosphokinase levels	CAV3*	Cav3		Alliance of Genome Resources
isolated sulfite oxidase deficiency	SUOX*	Suox		Alliance of Genome Resources
isovaleric acidemia	IVD*	Ivd		Alliance of Genome Resources
ITM2B-related cerebral amyloid angiopathy 1	ITM2B*	Itm2b		Alliance of Genome Resources
ITM2B-related cerebral amyloid angiopathy 2	ITM2B*	Itm2b		Alliance of Genome Resources
Kanzaki disease	NAGA*	Naga		Alliance of Genome Resources
latent autoimmune diabetes in adults	CTLA4*	Ctla4		Alliance of Genome Resources
Leigh disease	ND5*	mt-Nd5		Alliance of Genome Resources
Leigh disease	NDUFS2*	Ndufs2		Alliance of Genome Resources
Leigh disease	ND3*	mt-Nd3		Alliance of Genome Resources
Leigh disease	LRPPRC*	Lrpprc		Alliance of Genome Resources
Leigh disease	COX15*	Cox15		Alliance of Genome Resources
Leigh disease	SDHA*	Sdha		Alliance of Genome Resources
Leigh disease	ND6*	mt-Nd6		Alliance of Genome Resources
Lesch-Nyhan syndrome	XDH*	Xdh		Alliance of Genome Resources
lethal congenital glycogen storage disease of heart	PRKAG2*	Prkag2	2 models	Alliance of Genome Resources
leucine-sensitive hypoglycemia of infancy	ABCC8*	Abcc8		Alliance of Genome Resources
lipid metabolism disorder	MVK*	Mvk		Alliance of Genome Resources
lipid metabolism disorder	NPY5R*	Npy5r		Alliance of Genome Resources
lipid metabolism disorder	PPARA*	Ppara		Alliance of Genome Resources
lipid metabolism disorder	CPT1A*	Cpt1a		Alliance of Genome Resources
lipid metabolism disorder	CPT2*	Cpt2		Alliance of Genome Resources
lipid metabolism disorder	DHCR24*	Dhcr24		Alliance of Genome Resources
lipoatrophic diabetes mellitus	LMNA*	Lmna		Alliance of Genome Resources
lipoid proteinosis	ECM1*	Ecm1		Alliance of Genome Resources
lysosomal storage disease	AGA*	Aga		Alliance of Genome Resources
lysosomal storage disease	CTSA*	Ctsa		Alliance of Genome Resources
maple syrup urine disease	BCKDHB*	Bckdhb		Alliance of Genome Resources
maple syrup urine disease	DLD*	Dld		Alliance of Genome Resources
maple syrup urine disease	BCKDHA*	Bckdha		Alliance of Genome Resources
maturity-onset diabetes of the young	HNF1A*	Hnf1a		Alliance of Genome Resources
maturity-onset diabetes of the young type 10	INS*	Ins1, Ins2		Alliance of Genome Resources
maturity-onset diabetes of the young type 11	BLK*	Blk		Alliance of Genome Resources
maturity-onset diabetes of the young type 13	KCNJ11*	Kcnj11		Alliance of Genome Resources
maturity-onset diabetes of the young type 14	APPL1*	Appl1		Alliance of Genome Resources
maturity-onset diabetes of the young type 5	HNF1B*	Hnf1b		Alliance of Genome Resources
maturity-onset diabetes of the young type 6	NEUROD1*	Neurod1		Alliance of Genome Resources
maturity-onset diabetes of the young type 7	KLF11*	Klf11		Alliance of Genome Resources
maturity-onset diabetes of the young type 8	CEL*	Cel		Alliance of Genome Resources
maturity-onset diabetes of the young type 9	PAX4*	Pax4		Alliance of Genome Resources
MEND syndrome	EBP*	Ebp		Alliance of Genome Resources
metachromatic leukodystrophy	MAL*	Mal		Alliance of Genome Resources
metal metabolism disorder	TRPM6*	Trpm6		Alliance of Genome Resources
methylmalonic acidemia cblA type	MMAA*	Mmaa		Alliance of Genome Resources
methylmalonic acidemia cblB type	MMAB*	Mmab		Alliance of Genome Resources
methylmalonic aciduria and homocystinuria type cblC	PRDX1*	Prdx1		Alliance of Genome Resources
methylmalonic aciduria and homocystinuria type cblD	MMADHC*	Mmadhc		Alliance of Genome Resources
methylmalonic aciduria and homocystinuria type cblF	LMBRD1*	Lmbrd1		Alliance of Genome Resources
methylmalonic aciduria and homocystinuria type cblG	MTR*	Mtr		Alliance of Genome Resources
mevalonic aciduria	MVK*	Mvk		Alliance of Genome Resources
mitochondrial complex I deficiency	NDUFS1*	Ndufs1		Alliance of Genome Resources
mitochondrial complex II deficiency	SDHA*	Sdha		Alliance of Genome Resources
mitochondrial complex II deficiency	SDHB*	Sdhb		Alliance of Genome Resources
mitochondrial complex II deficiency	SDHAF1*	Sdhaf1		Alliance of Genome Resources
mitochondrial complex II deficiency	SDHD*	Sdhd		Alliance of Genome Resources
mitochondrial complex III deficiency	UQCRFS1*, UQCRFS1P1	Uqcrfs1		Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 2	TTC19*	Ttc19		Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 3	UQCRB*	Uqcrb		Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 4	UQCRQ*	Uqcrq		Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 5	UQCRC2*	Uqcrc2		Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 6	CYC1*	Cyc1		Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 7	UQCC2*	Uqcc2		Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 8	LYRM7*	Lyrm7		Alliance of Genome Resources
mitochondrial complex III deficiency nuclear type 9	UQCC3*	Uqcc3		Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency	ATP5F1D*	Atp5d		Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	ATPAF2*	Atpaf2		Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 2	TMEM70*	Tmem70		Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 3	ATP5F1E*, ATP5F1EP2	Atp5e		Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 4	ATP5F1A*	Atp5a1		Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 6	ATP5MK*	Atp5md		Alliance of Genome Resources
mitochondrial DNA depletion syndrome	POLG2*	Polg2		Alliance of Genome Resources
mitochondrial DNA depletion syndrome	LIG3*	Lig3		Alliance of Genome Resources
mitochondrial DNA depletion syndrome	MRM2*	Mrm2		Alliance of Genome Resources
mitochondrial DNA depletion syndrome	SLC25A21*	Slc25a21		Alliance of Genome Resources
mitochondrial DNA depletion syndrome	SLC25A10*	Slc25a10		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 1	TYMP*	Tymp	1 model	Alliance of Genome Resources
mitochondrial DNA depletion syndrome 11	MGME1*	Mgme1		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 12a	SLC25A4*	Slc25a4		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 12b	SLC25A4*	Slc25a4		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 13	FBXL4*	Fbxl4		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 14	OPA1*	Opa1		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 15	TFAM*	Tfam		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 3	DGUOK*	Dguok		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 4b	POLG*	Polg		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 6	MPV17*	Mpv17		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 7	TWNK*	Twnk		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 8a	RRM2B*	Rrm2b		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 8b	RRM2B*	Rrm2b		Alliance of Genome Resources
mitochondrial DNA depletion syndrome 9	SUCLG1*	Suclg1		Alliance of Genome Resources
mitochondrial metabolism disease	DGUOK*	Dguok		Alliance of Genome Resources
mitochondrial metabolism disease	HADHB*	Hadhb		Alliance of Genome Resources
mitochondrial metabolism disease	MCCC2*	Mccc2		Alliance of Genome Resources
mitochondrial pyruvate carrier deficiency	MPC1*	Mpc1		Alliance of Genome Resources
mitochondrial trifunctional protein deficiency	HADHB*	Hadhb		Alliance of Genome Resources
mitochondrial trifunctional protein deficiency	HADHA*	Hadha		Alliance of Genome Resources
molybdenum cofactor deficiency type A	MOCS1*	Mocs1		Alliance of Genome Resources
molybdenum cofactor deficiency type B	MOCS2*	Mocs2		Alliance of Genome Resources
molybdenum cofactor deficiency type C	GPHN*	Gphn		Alliance of Genome Resources
mucolipidosis III alpha/beta	GNPTAB*	Gnptab		Alliance of Genome Resources
mucolipidosis III gamma	GNPTG*	Gnptg		Alliance of Genome Resources
mucopolysaccharidosis	HYAL1*	Hyal1		Alliance of Genome Resources
mucopolysaccharidosis Ih	IDUA*	Idua		Alliance of Genome Resources
mucopolysaccharidosis Ih/s	IDUA*	Idua		Alliance of Genome Resources
mucopolysaccharidosis III	COASY*	Coasy		Alliance of Genome Resources
mucopolysaccharidosis IV	GLB1*	Glb1		Alliance of Genome Resources
mucopolysaccharidosis IVA	GALNS*	Galns		Alliance of Genome Resources
mucopolysaccharidosis type IIIA	SGSH*	Sgsh		Alliance of Genome Resources
mucopolysaccharidosis type IIIB	NAGLU*	Naglu		Alliance of Genome Resources
mucopolysaccharidosis type IIIC	HGSNAT*	Hgsnat		Alliance of Genome Resources
mucopolysaccharidosis type IIID	GNS*	Gns		Alliance of Genome Resources
mucopolysaccharidosis type IVB	GLB1*	Glb1		Alliance of Genome Resources
multiple acyl-CoA dehydrogenase deficiency	ETFDH*	Etfdh		Alliance of Genome Resources
multiple acyl-CoA dehydrogenase deficiency	ETFA*	Etfa		Alliance of Genome Resources
multiple acyl-CoA dehydrogenase deficiency	ETFB*	Etfb		Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN*	Pign		Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 2	PIGA*	Piga		Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 3	PIGT*	Pigt		Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 1	NFU1*	Nfu1		Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 2	BOLA3*	Bola3		Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 3	IBA57*	Iba57		Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 4	ISCA2*	Isca2		Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 5	ISCA1*	AK157302, Isca1		Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 6	PMPCB*	Pmpcb		Alliance of Genome Resources
N-acetylglutamate synthase deficiency	NAGS*	Nags		Alliance of Genome Resources
NARP syndrome	ATP6*	Gm10925, mt-Atp6		Alliance of Genome Resources
neonatal-onset type II citrullinemia	SLC25A13*	Slc25a13		Alliance of Genome Resources
Neu-Laxova syndrome 1	PHGDH*	Phgdh		Alliance of Genome Resources
Neu-Laxova syndrome 2	PSAT1*	Psat1		Alliance of Genome Resources
neuronal ceroid lipofuscinosis	CLN6*	Cln6		Alliance of Genome Resources
neuronal ceroid lipofuscinosis	SOD2*	Sod2		Alliance of Genome Resources
neuronal ceroid lipofuscinosis 11	GRN*	Grn		Alliance of Genome Resources
neuronal ceroid lipofuscinosis 13	CTSF*	Ctsf		Alliance of Genome Resources
neuronal ceroid lipofuscinosis 4	DNAJC5*	Dnajc5		Alliance of Genome Resources
neuronal ceroid lipofuscinosis 6B	CLN6*	Cln6		Alliance of Genome Resources
neuronal ceroid lipofuscinosis 8 northern epilepsy variant	CLN8*	Cln8		Alliance of Genome Resources
NGLY1-deficiency	NGLY1*	Ngly1		Alliance of Genome Resources
Niemann-Pick disease type A	SMPD1*	Smpd1		Alliance of Genome Resources
Niemann-Pick disease type B	SMPD1*	Smpd1		Alliance of Genome Resources
Niemann-Pick disease type C2	NPC2*	Npc2		Alliance of Genome Resources
non-alcoholic fatty liver disease	MTTP*	Mttp		Alliance of Genome Resources
non-alcoholic fatty liver disease	DGAT2*	Dgat2		Alliance of Genome Resources
non-alcoholic fatty liver disease	IL6*	Il6		Alliance of Genome Resources
non-alcoholic fatty liver disease	IL1B*	Il1b		Alliance of Genome Resources
non-alcoholic fatty liver disease	SOD2*	Sod2		Alliance of Genome Resources
non-alcoholic fatty liver disease	MTHFR*	Mthfr		Alliance of Genome Resources
non-alcoholic fatty liver disease	IFNL4*
non-alcoholic fatty liver disease	HFE*	Hfe		Alliance of Genome Resources
non-alcoholic fatty liver disease	PPARGC1A*	Ppargc1a		Alliance of Genome Resources
non-alcoholic fatty liver disease	CCR2*	Ccr2		Alliance of Genome Resources
non-alcoholic fatty liver disease	ALDH2*	Aldh2		Alliance of Genome Resources
non-alcoholic fatty liver disease	ADRB3*	Adrb3		Alliance of Genome Resources
non-alcoholic fatty liver disease	ADIPOR2*	Adipor2		Alliance of Genome Resources
non-alcoholic fatty liver disease	ADIPOQ*	Adipoq		Alliance of Genome Resources
non-alcoholic fatty liver disease	ABCC2*	Abcc2		Alliance of Genome Resources
non-alcoholic fatty liver disease	SAMM50*	Samm50		Alliance of Genome Resources
non-alcoholic steatohepatitis	SOD2*	Sod2		Alliance of Genome Resources
non-alcoholic steatohepatitis	LEPR*	Lepr		Alliance of Genome Resources
non-alcoholic steatohepatitis	IL10*	Il10		Alliance of Genome Resources
non-alcoholic steatohepatitis	IL6*	Il6		Alliance of Genome Resources
non-alcoholic steatohepatitis	APOA1*	Apoa1		Alliance of Genome Resources
non-alcoholic steatohepatitis	SERPINF1*	Serpinf1		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency	NDUFA8*	Ndufa8		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency	DNAJC30*	Dnajc30		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency	NDUFC2*, NDUFC2-KCTD14	Ndufc2		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 1	NDUFS4*	Ndufs4		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 10	NDUFAF2*	Ndufaf2		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 11	NDUFAF1*	Ndufaf1		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 12	NDUFA1*	Ndufa1		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 13	NDUFA2*	Ndufa2		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 14	NDUFA11*	Ndufa11, Ndufa11b		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 15	NDUFAF4*	Ndufaf4		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 16	NDUFAF5*	Ndufaf5		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 17	NDUFAF6*	Ndufaf6		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 18	NDUFAF3*	Ndufaf3		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 19	FOXRED1*	Foxred1		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 2	NDUFS8*	Ndufs8		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 21	NUBPL*	Nubpl		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 22	NDUFA10*	Ndufa10		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 23	NDUFA12*	Ndufa12		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 24	NDUFB9*	Ndufb9		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 25	NDUFB3*	Ndufb3		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 26	NDUFA9*	Ndufa9		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 27	MTFMT*	Mtfmt		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 28	NDUFA13*	Ndufa13		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 29	TMEM126B*	Tmem126b		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 3	NDUFS7*	Ndufs7		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 30	NDUFB11*	Ndufb11, Ndufb11b		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 31	TIMMDC1*	Timmdc1		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 32	NDUFB8*	Ndufb8		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 33	NDUFA6*	Ndufa6		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 34	NDUFAF8*	Ndufaf8		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 35	NDUFB10*	Ndufb10		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 4	NDUFV1*	Ndufv1		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 5	NDUFS1*	Ndufs1		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 6	NDUFS2*	Ndufs2		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 7	NDUFV2*	Ndufv2		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 8	NDUFS3*	Ndufs3		Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 9	NDUFS6*	Ndufs6, Ndufs6b		Alliance of Genome Resources
occipital horn syndrome	ATP7A*	Atp7a		Alliance of Genome Resources
ornithine translocase deficiency	SLC25A15*	Slc25a15		Alliance of Genome Resources
orotic aciduria	UMPS*	Umps		Alliance of Genome Resources
pentosuria	DCXR*	Dcxr		Alliance of Genome Resources
permanent neonatal diabetes mellitus	ABCC8*	Abcc8		Alliance of Genome Resources
permanent neonatal diabetes mellitus	GCK*	Gck		Alliance of Genome Resources
peroxisomal biogenesis disorder	PEX6*	Pex6		Alliance of Genome Resources
peroxisomal biogenesis disorder	PEX2*	Pex2		Alliance of Genome Resources
peroxisomal biogenesis disorder	PEX11B*	Pex11b		Alliance of Genome Resources
peroxisomal biogenesis disorder	PEX7*	Pex7		Alliance of Genome Resources
peroxisomal biogenesis disorder	PEX10*	Pex10		Alliance of Genome Resources
peroxisomal biogenesis disorder	PEX26*	Pex26		Alliance of Genome Resources
peroxisomal biogenesis disorder	PEX3*	Pex3		Alliance of Genome Resources
peroxisomal biogenesis disorder	PEX16*	Pex16		Alliance of Genome Resources
peroxisomal biogenesis disorder	PEX13*	Pex13		Alliance of Genome Resources
peroxisomal disease	PHYH*	Phyh		Alliance of Genome Resources
peroxisome biogenesis disorder 10A	PEX3*	Pex3		Alliance of Genome Resources
peroxisome biogenesis disorder 11A	PEX13*	Pex13		Alliance of Genome Resources
peroxisome biogenesis disorder 12A	PEX19*	Pex19		Alliance of Genome Resources
peroxisome biogenesis disorder 13A	PEX14*	Pex14		Alliance of Genome Resources
peroxisome biogenesis disorder 1A	PEX1*	Pex1		Alliance of Genome Resources
peroxisome biogenesis disorder 2A	PEX5*	Pex5		Alliance of Genome Resources
peroxisome biogenesis disorder 2B	PEX5*	Pex5		Alliance of Genome Resources
peroxisome biogenesis disorder 3A	PEX12*	Pex12		Alliance of Genome Resources
peroxisome biogenesis disorder 4A	PEX6*	Pex6		Alliance of Genome Resources
peroxisome biogenesis disorder 5A	PEX2*	Pex2		Alliance of Genome Resources
peroxisome biogenesis disorder 6A	PEX10*	Pex10		Alliance of Genome Resources
peroxisome biogenesis disorder 7A	PEX26*	Pex26		Alliance of Genome Resources
peroxisome biogenesis disorder 8A	PEX16*	Pex16		Alliance of Genome Resources
phenylketonuria	PTS*	Pts		Alliance of Genome Resources
phenylketonuria	QDPR*	Qdpr		Alliance of Genome Resources
PHGDH deficiency	PHGDH*	Phgdh		Alliance of Genome Resources
phosphoglycerate kinase 1 deficiency	PGK1*	Pgk1		Alliance of Genome Resources
phosphoribosylpyrophosphate synthetase superactivity	PRPS1*	Prps1		Alliance of Genome Resources
porphyria	EPO*	Epo		Alliance of Genome Resources
porphyria cutanea tarda	CYP1A1*	Cyp1a1		Alliance of Genome Resources
porphyria cutanea tarda	UROD*	Urod	1 model	Alliance of Genome Resources
porphyria cutanea tarda	ALAD*	Alad		Alliance of Genome Resources
porphyria cutanea tarda	HFE*	Hfe	1 model	Alliance of Genome Resources
porphyria cutanea tarda	GSTM1*, GSTM5	Gstm1, Gstm2, Gstm3, Gstm6		Alliance of Genome Resources
porphyria cutanea tarda	CYP1A2*	Cyp1a2		Alliance of Genome Resources
prediabetes syndrome	UCP3*	Ucp3		Alliance of Genome Resources
prediabetes syndrome	CCR2*	Ccr2		Alliance of Genome Resources
prediabetes syndrome	IL6*	Il6		Alliance of Genome Resources
prediabetes syndrome	GCG*	Gcg		Alliance of Genome Resources
prediabetes syndrome	PTPRN2*	Ptprn2		Alliance of Genome Resources
primary coenzyme Q10 deficiency 1	COQ2*	Coq2		Alliance of Genome Resources
primary coenzyme Q10 deficiency 2	PDSS1*	Pdss1		Alliance of Genome Resources
primary coenzyme Q10 deficiency 3	PDSS2*	Pdss2		Alliance of Genome Resources
primary coenzyme Q10 deficiency 5	COQ9*	Coq9		Alliance of Genome Resources
primary coenzyme Q10 deficiency 6	COQ6*	Coq6		Alliance of Genome Resources
primary coenzyme Q10 deficiency 7	COQ4*	Coq4		Alliance of Genome Resources
primary coenzyme Q10 deficiency 8	COQ7*	Coq7		Alliance of Genome Resources
primary coenzyme Q10 deficiency 9	COQ5*	Coq5		Alliance of Genome Resources
primary hyperoxaluria	GRHPR*	Grhpr		Alliance of Genome Resources
primary hyperoxaluria type 3	HOGA1*	Hoga1		Alliance of Genome Resources
primary hypoalphalipoproteinemia 1	ABCA1*	Abca1		Alliance of Genome Resources
primary hypoalphalipoproteinemia 2	APOA1*	Apoa1		Alliance of Genome Resources
primary hypomagnesemia	EGF*	Egf		Alliance of Genome Resources
primary localized cutaneous amyloidosis 1	OSMR*	Osmr		Alliance of Genome Resources
primary localized cutaneous amyloidosis 2	IL31RA*	Il31ra		Alliance of Genome Resources
primary localized cutaneous amyloidosis 3	GPNMB*	Gpnmb		Alliance of Genome Resources
prolidase deficiency	PEPD*	Pepd		Alliance of Genome Resources
propionic acidemia	PCCB*	Pccb		Alliance of Genome Resources
PSAT deficiency	PSAT1*	Psat1		Alliance of Genome Resources
pseudohypoparathyroidism type IB	STX16*	Stx16		Alliance of Genome Resources
pseudohypoparathyroidism type IB	GNAS-AS1*	Gnasas1		Alliance of Genome Resources
pseudohypoparathyroidism type IB	GNAS*	Gnas		Alliance of Genome Resources
PSPH deficiency	PSPH*	Psph		Alliance of Genome Resources
purine-pyrimidine metabolic disorder	DPYS*	Dpys		Alliance of Genome Resources
purine-pyrimidine metabolic disorder	ATIC*	Atic		Alliance of Genome Resources
purine-pyrimidine metabolic disorder	UMPS*	Umps		Alliance of Genome Resources
purine-pyrimidine metabolic disorder	PNP*	Pnp, Pnp2		Alliance of Genome Resources
pyridoxamine 5'-phosphate oxidase deficiency	PNPO*	Pnpo		Alliance of Genome Resources
pyruvate carboxylase deficiency disease	PC*	Pcx		Alliance of Genome Resources
pyruvate decarboxylase deficiency	PDHB*	Pdhb		Alliance of Genome Resources
pyruvate decarboxylase deficiency	PDP1*	Pdp1		Alliance of Genome Resources
pyruvate decarboxylase deficiency	PDHX*	Pdhx		Alliance of Genome Resources
pyruvate decarboxylase deficiency	PDHA1*	Pdha1		Alliance of Genome Resources
pyruvate decarboxylase deficiency	LIAS*	Lias		Alliance of Genome Resources
pyruvate decarboxylase deficiency	DLAT*	Dlat		Alliance of Genome Resources
renal hypomagnesemia 2	FXYD2*	Fxyd2		Alliance of Genome Resources
renal hypomagnesemia 4	EGF*	Egf		Alliance of Genome Resources
renal hypomagnesemia 5 with ocular involvement	CLDN19*	Cldn19		Alliance of Genome Resources
renal hypomagnesemia 6	CNNM2*	Cnnm2		Alliance of Genome Resources
retinal dystrophy with leukodystrophy	ACBD5*	Acbd5		Alliance of Genome Resources
sarcosinemia	SARDH*	Sardh		Alliance of Genome Resources
Scheie syndrome	IDUA*	Idua		Alliance of Genome Resources
Schindler disease type 1	NAGA*	Naga		Alliance of Genome Resources
sea-blue histiocytosis	APOE*	Apoe		Alliance of Genome Resources
Sengers syndrome	AGK*	Agk		Alliance of Genome Resources
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	POLG*	Polg		Alliance of Genome Resources
sialuria	GNE*	Gne		Alliance of Genome Resources
sphingolipidosis	ASAH1*	Asah1		Alliance of Genome Resources
succinic semialdehyde dehydrogenase deficiency	ALDH5A1*	Aldh5a1		Alliance of Genome Resources
thiopurine S-methyltransferase deficiency	NUDT15*	Nudt15		Alliance of Genome Resources
transcobalamin II deficiency	TCN2*	Tcn2		Alliance of Genome Resources
trimethylaminuria	FMO3*	Fmo3		Alliance of Genome Resources
type 1 diabetes mellitus	TF*	Trf		Alliance of Genome Resources
type 1 diabetes mellitus	WFS1*	Wfs1		Alliance of Genome Resources
type 1 diabetes mellitus	XYLT1*	Xylt1		Alliance of Genome Resources
type 1 diabetes mellitus	TLR3*	Tlr3		Alliance of Genome Resources
type 1 diabetes mellitus	TLR2*	Tlr2	1 "NOT" model	Alliance of Genome Resources
type 1 diabetes mellitus	TBP*	Tbp		Alliance of Genome Resources
type 1 diabetes mellitus	TAP2*	Tap2		Alliance of Genome Resources
type 1 diabetes mellitus	TAP1*	Tap1		Alliance of Genome Resources
type 1 diabetes mellitus	SREBF2*	Srebf2		Alliance of Genome Resources
type 1 diabetes mellitus	SOD2*	Sod2	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	SOD1*	Sod1		Alliance of Genome Resources
type 1 diabetes mellitus	SLC11A1*	Slc11a1		Alliance of Genome Resources
type 1 diabetes mellitus	SH2B3*	Sh2b3		Alliance of Genome Resources
type 1 diabetes mellitus	REG1A*, REG1B	Reg1, Reg2		Alliance of Genome Resources
type 1 diabetes mellitus	RAN*	Ran		Alliance of Genome Resources
type 1 diabetes mellitus	PTPRN*	Ptprn		Alliance of Genome Resources
type 1 diabetes mellitus	PTPN22*	Ptpn22		Alliance of Genome Resources
type 1 diabetes mellitus	PTH*	Pth		Alliance of Genome Resources
type 1 diabetes mellitus	PRRC2A*	Prrc2a		Alliance of Genome Resources
type 1 diabetes mellitus	PAX4*	Pax4		Alliance of Genome Resources
type 1 diabetes mellitus	NOTCH4*	Notch4		Alliance of Genome Resources
type 1 diabetes mellitus	NEUROD1*	Neurod1		Alliance of Genome Resources
type 1 diabetes mellitus	MTHFR*	Mthfr		Alliance of Genome Resources
type 1 diabetes mellitus	MIR155*	Mir155		Alliance of Genome Resources
type 1 diabetes mellitus	MIR146A*	Mir146		Alliance of Genome Resources
type 1 diabetes mellitus	LTA*	Lta		Alliance of Genome Resources
type 1 diabetes mellitus	ITPR3*	Itpr3		Alliance of Genome Resources
type 1 diabetes mellitus	ISL1*	Isl1		Alliance of Genome Resources
type 1 diabetes mellitus	IL15*	Il15		Alliance of Genome Resources
type 1 diabetes mellitus	IL6*	Il6		Alliance of Genome Resources
type 1 diabetes mellitus	IL2RA*	Il2ra		Alliance of Genome Resources
type 1 diabetes mellitus	IL2*	Il2		Alliance of Genome Resources
type 1 diabetes mellitus	IL1RN*	Il1rn		Alliance of Genome Resources
type 1 diabetes mellitus	IL1B*	Il1b		Alliance of Genome Resources
type 1 diabetes mellitus	IL1A*	Il1a		Alliance of Genome Resources
type 1 diabetes mellitus	IGFBP3*	Igfbp3		Alliance of Genome Resources
type 1 diabetes mellitus	IGF2R*	Igf2r		Alliance of Genome Resources
type 1 diabetes mellitus	IGF1*	Igf1		Alliance of Genome Resources
type 1 diabetes mellitus	ICAM1*	Icam1	1 "NOT" model	Alliance of Genome Resources
type 1 diabetes mellitus	ICA1*	Ica1		Alliance of Genome Resources
type 1 diabetes mellitus	IAPP*	Iapp		Alliance of Genome Resources
type 1 diabetes mellitus	HSD11B2*	Hsd11b2		Alliance of Genome Resources
type 1 diabetes mellitus	HNF1A*	Hnf1a		Alliance of Genome Resources
type 1 diabetes mellitus	HLA-DPB1*
type 1 diabetes mellitus	HLA-DPA1*
type 1 diabetes mellitus	HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5	H2-Eb1, H2-Eb2		Alliance of Genome Resources
type 1 diabetes mellitus	HLA-DQB1*, HLA-DQB2	H2-Ab1	3 models	Alliance of Genome Resources
type 1 diabetes mellitus	HLA-DQA1*, HLA-DQA2	H2-Aa	1 "NOT" model	Alliance of Genome Resources
type 1 diabetes mellitus	GSTM1*, GSTM5	Gstm1, Gstm2, Gstm3, Gstm6		Alliance of Genome Resources
type 1 diabetes mellitus	GH1*, CSH1, CSH2, CSHL1, GH2	Gh		Alliance of Genome Resources
type 1 diabetes mellitus	GC*	Gc		Alliance of Genome Resources
type 1 diabetes mellitus	FOXP3*	Foxp3		Alliance of Genome Resources
type 1 diabetes mellitus	F7*	F7		Alliance of Genome Resources
type 1 diabetes mellitus	ETS1*	Ets1		Alliance of Genome Resources
type 1 diabetes mellitus	EIF2AK3*	Eif2ak3		Alliance of Genome Resources
type 1 diabetes mellitus	DDX39B*	Ddx39b		Alliance of Genome Resources
type 1 diabetes mellitus	CYP27B1*	Cyp27b1		Alliance of Genome Resources
type 1 diabetes mellitus	CYP2R1*	Cyp2r1		Alliance of Genome Resources
type 1 diabetes mellitus	CXCL12*	Cxcl12		Alliance of Genome Resources
type 1 diabetes mellitus	CTLA4*	Ctla4		Alliance of Genome Resources
type 1 diabetes mellitus	CLEC16A*	Clec16a		Alliance of Genome Resources
type 1 diabetes mellitus	CFB*	Cfb		Alliance of Genome Resources
type 1 diabetes mellitus	CEL*	Cel		Alliance of Genome Resources
type 1 diabetes mellitus	CD86*	Cd86	1 model	Alliance of Genome Resources
type 1 diabetes mellitus	CD80*	Cd80	6 models	Alliance of Genome Resources
type 1 diabetes mellitus	CD28*	Cd28		Alliance of Genome Resources
type 1 diabetes mellitus	CCR2*	Ccr2