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* 3 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
cerebral creatine deficiency syndrome 1 SLC6A8* Slc6a8* 5 models Alliance of Genome Resources
Chanarin-Dorfman syndrome ABHD5* Abhd5* 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 CYP11B1*, CYP11B2 Cyp11b1*, Cyp11b2 1 model Alliance of Genome Resources
congenital adrenal hyperplasia STAR* Star* 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
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 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
diphthamide deficiency syndrome 1 DPH1* Dph1* 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* Gba1* 9 models Alliance of Genome Resources
Gaucher's disease type I GBA1* Gba1* 6 models Alliance of Genome Resources
Gaucher's disease type II GBA1* Gba1* 2 models Alliance of Genome Resources
glucose transporter type 1 deficiency syndrome 1 SLC2A1* Slc2a1* 1 model Alliance of Genome Resources
glutaric acidemia I GCDH* Gcdh* 2 models Alliance of Genome Resources
glutaric acidemia type 3 SUGCT* Sugct* 1 model Alliance of Genome Resources
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 Ia G6PC1* G6pc1* 5 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* Gyg1* 1 model Alliance of Genome Resources
GM1 gangliosidosis GLB1* Glb1* 3 models Alliance of Genome Resources
GM2 gangliosidosis, AB variant GM2A* Gm2a* 1 model Alliance of Genome Resources
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* Hprt1* 2 models Alliance of Genome Resources
lysinuric protein intolerance SLC7A7* Slc7a7* 1 model Alliance of Genome Resources
maple syrup urine disease BCKDHB* Bckdhb* 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* 1 model 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 LOX* Lox* 1 model Alliance of Genome Resources
Menkes disease ATP7A* Atp7a* 10 models Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease PNPLA3* Pnpla3* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease LEPR* Lepr* 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* 9 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
molybdenum cofactor deficiency type A MOCS1* Mocs1* 1 model Alliance of Genome Resources
molybdenum cofactor deficiency type B MOCS2* Mocs2* 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 GNS* Gns* 1 model Alliance of Genome Resources
mucopolysaccharidosis III NAGLU* Naglu* 3 models Alliance of Genome Resources
mucopolysaccharidosis III SGSH* Sgsh* 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
Niemann-Pick disease SMPD1* Smpd1* 2 models Alliance of Genome Resources
Niemann-Pick disease NPC2* Npc2* 3 models Alliance of Genome Resources
Niemann-Pick disease type C1 NPC1* Npc1* 2 models 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
poor metabolism of thiopurines TPMT* Tpmt* 1 model 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
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 6 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 AKT2* Akt2* 1 model Alliance of Genome Resources
type 2 diabetes mellitus CDKAL1* Cdkal1* 1 model Alliance of Genome Resources
type 2 diabetes mellitus CYB5R4* Cyb5r4* 1 model Alliance of Genome Resources
type 2 diabetes mellitus GCK* Gck* 2 models Alliance of Genome Resources
type 2 diabetes mellitus HMGA1* Hmga1*, Hmga1b 2 models Alliance of Genome Resources
type 2 diabetes mellitus HNF1A* Hnf1a* 1 model Alliance of Genome Resources
type 2 diabetes mellitus IAPP* Iapp* 1 model Alliance of Genome Resources
type 2 diabetes mellitus INS* Ins2*, Ins1 1 model Alliance of Genome Resources
type 2 diabetes mellitus IRS1* Irs1* 3 models Alliance of Genome Resources
type 2 diabetes mellitus IRS2* Irs2* 4 models Alliance of Genome Resources
type 2 diabetes mellitus LEP* Lep* 1 model Alliance of Genome Resources
type 2 diabetes mellitus LEPR* Lepr* 8 models Alliance of Genome Resources
type 2 diabetes mellitus PPARD* Ppard* 1 model Alliance of Genome Resources
type 2 diabetes mellitus PPP1R3A* Ppp1r3a* 1 model Alliance of Genome Resources
type 2 diabetes mellitus SLC2A2* Slc2a2* 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
xanthinuria type II MOCOS* Mocos* 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* 4 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 OGT Ogt* 1 model Alliance of Genome Resources
congenital disorder of glycosylation type I PMM2 Pmm2* 1 model Alliance of Genome Resources
cytochrome-c oxidase deficiency disease COX10 Cox10* 1 model Alliance of Genome Resources
diabetes mellitus BMAL1 Bmal1* 1 model Alliance of Genome Resources
diabetes mellitus CLOCK Clock* 1 model Alliance of Genome Resources
diabetes mellitus PPARA Ppara* 2 models 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
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 Ia 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 ABCC8 Abcc8* 1 model Alliance of Genome Resources
hyperinsulinemic hypoglycemia GCK Gck* 1 model Alliance of Genome Resources
hyperphosphatemic familial tumoral calcinosis GALNT3 Galnt3* 2 models Alliance of Genome Resources
hyperphosphatemic familial tumoral calcinosis KL Kl* 2 models Alliance of Genome Resources
hypokalemic periodic paralysis SCN4A Scn4a* 1 model Alliance of Genome Resources
Krabbe disease PSAP Psap* 1 model Alliance of Genome Resources
Leigh disease PARL Parl* 2 models Alliance of Genome Resources
Leigh disease SDHC Sdhc* 1 model Alliance of Genome Resources
Leigh disease SOD2 Sod2* 1 model Alliance of Genome Resources
lysosomal acid lipase deficiency LIPA Lipa* 1 model 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 TGM2 Tgm2* 1 model Alliance of Genome Resources
maturity-onset diabetes of the young MAFA Mafa* 1 model Alliance of Genome Resources
maturity-onset diabetes of the young INS Ins2*, Ins1 3 models Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis MC4R Mc4r* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis KRT18 Krt18* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease SIDT2 Sidt2* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease PPDPF Ppdpf* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease PGRMC1 Pgrmc1* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease NLRP3 Nlrp3* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease LEP Lep* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease Iigp1c* 3 models
metabolic dysfunction-associated steatotic liver disease ALDH1L2 Aldh1l2* 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 NDUFA1 Ndufa1* 1 model Alliance of Genome Resources
mitochondrial complex I deficiency NDUFS4 Ndufs4* 1 model Alliance of Genome Resources
mitochondrial complex I deficiency NDUFS6 Ndufs6*, Ndufs6b 1 model Alliance of Genome Resources
mitochondrial complex I deficiency AIFM1 Aifm1* 2 models 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 CLCN3 Clcn3* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 CLCN6 Clcn6* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 PPT1 Ppt1* 1 model Alliance of Genome Resources
Niemann-Pick disease NPC1 Npc1* 17 models Alliance of Genome Resources
Niemann-Pick disease fm* 1 model
peroxisomal disease ACBD5 Acbd5* 1 model Alliance of Genome Resources
phenylketonuria HNF1A Hnf1a* 1 model Alliance of Genome Resources
phenylketonuria hph1* 1 model
polyclonal hypergammaglobulinemia COPG1 Copg1* 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
steatotic liver disease ADK Adk* 1 model Alliance of Genome Resources
steatotic liver disease SIRT1 Sirt1* 1 model Alliance of Genome Resources
steatotic liver disease PTEN Pten* 2 models Alliance of Genome Resources
steatotic liver disease PLAU Plau* 1 model Alliance of Genome Resources
steatotic liver disease MC4R Mc4r* 1 model Alliance of Genome Resources
steatotic liver disease LRP6 Lrp6* 1 model Alliance of Genome Resources
steatotic liver disease LGALS3 Lgals3* 1 model Alliance of Genome Resources
steatotic liver disease LEP Lep* 1 model Alliance of Genome Resources
steatotic liver disease LDLR Ldlr* 1 model Alliance of Genome Resources
steatotic liver disease IKBKG Ikbkg* 1 model Alliance of Genome Resources
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-hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCL* Hmgcl   Alliance of Genome Resources
3-hydroxyisobutryl-CoA hydrolase deficiency HIBCH* Hibch   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 PCCB* Pccb   Alliance of Genome Resources
amino acid metabolic disorder ASL* Asl   Alliance of Genome Resources
amino acid metabolic disorder CTH* Cth   Alliance of Genome Resources
amino acid metabolic disorder GAMT* Gamt   Alliance of Genome Resources
amino acid metabolic disorder HMGCL* Hmgcl   Alliance of Genome Resources
amino acid metabolic disorder IVD* Ivd   Alliance of Genome Resources
amino acid metabolic disorder NAGS* Nags   Alliance of Genome Resources
amino acid metabolic disorder PCCA* Pcca   Alliance of Genome Resources
amino acid metabolic disorder PHGDH* Phgdh   Alliance of Genome Resources
amino acid metabolic disorder PRODH* Prodh   Alliance of Genome Resources
amino acid metabolic disorder SLC25A15* Slc25a15   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 ABCC2* Abcc2   Alliance of Genome Resources
bilirubin metabolic disorder HGF* Hgf   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 SOD2* Sod2   Alliance of Genome Resources
carbohydrate metabolic disorder TALDO1* Taldo1   Alliance of Genome Resources
carbohydrate metabolic disorder ACAT1* Acat1   Alliance of Genome Resources
carbohydrate metabolic disorder MPI* Mpi   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 MRPL39* Mrpl39   Alliance of Genome Resources
combined oxidative phosphorylation deficiency TEFM* Tefm   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 1 GFM1* Gfm1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 10 MTO1* Mto1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 11 RMND1* Rmnd1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 12 EARS2* Ears2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 13 PNPT1* Pnpt1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 14 FARS2* Fars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 15 MTFMT* Mtfmt   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 16 MRPL44* Mrpl44   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 17 ELAC2* Elac2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 18 SFXN4* Sfxn4   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 19 LYRM4* Lyrm4   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 2 MRPS16* Mrps16   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 20 VARS2* Vars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 21 TARS2* Tars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 22 ATP5F1A* Atp5f1a   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 23 GTPBP3* Gtpbp3   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 24 NARS2* Nars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 25 MARS2* Mars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 26 TRMT5* Trmt5   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 27 CARS2* Cars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 28 SLC25A26* Slc25a26   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 29 TXN2* Txn2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 3 TSFM* Tsfm   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 30 TRMT10C* Trmt10c   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 31 MIPEP* Mipep   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 32 MRPS34* Mrps34   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 33 C1QBP* C1qbp   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 34 MRPS7* Mrps7   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 35 TRIT1* Trit1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 36 MRPS2* Mrps2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 37 MICOS13* Micos13   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 38 MRPS14* Mrps14   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 39 GFM2* Gfm2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 4 TUFM* Tufm   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 40 QRSL1* Qrsl1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 41 GATB* Gatb   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 42 GATC* Gatc   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 43 TIMM22* Timm22   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 44 FASTKD2* Fastkd2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 45 MRPL12* Mrpl12   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 46 MRPS23* Mrps23   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 47 MRPS28* Mrps28   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 48 NSUN3* Nsun3   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 49 MIEF2* Mief2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 5 MRPS22* Mrps22   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 50 MRPS25* Mrps25   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 51 PTCD3* Ptcd3   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 52 NFS1* Nfs1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 53 C2orf69* 1700066M21Rik   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 54 PRORP* Prorp   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 55 POLRMT* Polrmt   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 56 TAMM41* Tamm41   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 57 CRLS1* Crls1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 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 POR* Por   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 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 deglycosylation 1 NGLY1* Ngly1   Alliance of Genome Resources
congenital disorder of glycosylation B4GALT1* B4galt1   Alliance of Genome Resources
congenital disorder of glycosylation PMM2* Pmm2   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 EDEM3* Edem3   Alliance of Genome Resources
congenital disorder of glycosylation type II SLC37A4* Slc37a4   Alliance of Genome Resources
congenital disorder of glycosylation type II COG3* Cog3   Alliance of Genome Resources
congenital disorder of glycosylation type II CAMLG* Caml   Alliance of Genome Resources
congenital disorder of glycosylation type II STX5* Stx5a   Alliance of Genome Resources
congenital disorder of glycosylation type II GET4* Get4   Alliance of Genome Resources
congenital disorder of glycosylation type II GALNT2* Galnt2   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 glutamine deficiency GLUL* Glul   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 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
developmental and epileptic encephalopathy 116 GLUL* Glul   Alliance of Genome Resources
D-glyceric aciduria GLYCTK* Glyctk   Alliance of Genome Resources
diabetes mellitus INSR* Insr   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 PTPRD* Ptprd   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 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 GSTT1* Gstt1   Alliance of Genome Resources
diabetes mellitus GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
diabetes mellitus GIPR* Gipr   Alliance of Genome Resources
diabetes mellitus GCK* Gck   Alliance of Genome Resources
diabetes mellitus G6PD* G6pd2, G6pdx   Alliance of Genome Resources
diabetes mellitus CYP11B2*, CYP11B1 Cyp11b1, Cyp11b2   Alliance of Genome Resources
diabetes mellitus CYP2C9*, CYP2C8, CYP2C18, CYP2C19 Cyp2c29, Cyp2c37, Cyp2c38, Cyp2c39, Cyp2c50, Cyp2c55, Cyp2c65, Cyp2c66   Alliance of Genome Resources
diabetes mellitus CYP1A1* Cyp1a1   Alliance of Genome Resources
diabetes mellitus CTSB* Ctsb   Alliance of Genome Resources
diabetes mellitus CSF1R* Csf1r   Alliance of Genome Resources
diabetes mellitus CDKAL1* Cdkal1   Alliance of Genome Resources
diabetes mellitus APOE* Apoe   Alliance of Genome Resources
diabetes mellitus ACP1* Acp1   Alliance of Genome Resources
dihydropyrimidinase deficiency DPYS* Dpys   Alliance of Genome Resources
dihydropyrimidine dehydrogenase deficiency DPYD* Dpyd   Alliance of Genome Resources
dimethylglycine dehydrogenase deficiency DMGDH* Dmgdh   Alliance of Genome Resources
diphthamide deficiency syndrome 2 DPH2* Dph2   Alliance of Genome Resources
dopamine beta-hydroxylase deficiency HSPA5* Hspa5   Alliance of Genome Resources
Dubin-Johnson syndrome ABCC2* Abcc2   Alliance of Genome Resources
dystonia 9 SLC2A1* Slc2a1   Alliance of Genome Resources
erythropoietic protoporphyria CLPX* Clpx   Alliance of Genome Resources
erythropoietic protoporphyria ALAS2* Alas2   Alliance of Genome Resources
essential fructosuria KHK* Khk   Alliance of Genome Resources
Fabry disease AGT* Agt   Alliance of Genome Resources
Fabry disease ACE* Ace   Alliance of Genome Resources
Fabry disease IL1A* Il1a   Alliance of Genome Resources
Fabry disease VDR* Vdr   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 APOC3* Apoc3   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 combined hyperlipidemia HNF4A* Hnf4a   Alliance of Genome Resources
familial combined hyperlipidemia APOE* Apoe 1 model Alliance of Genome Resources
familial combined hyperlipidemia ADD1* Add1   Alliance of Genome Resources
familial GPIHBP1 deficiency GPIHBP1* Gpihbp1   Alliance of Genome Resources
familial hypercholesterolemia APOA1* Apoa1   Alliance of Genome Resources
familial hypercholesterolemia ADRB2* Adrb2   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 MTTP* Mttp   Alliance of Genome Resources
familial hypercholesterolemia PCSK9* Pcsk9   Alliance of Genome Resources
familial hypercholesterolemia PON2* Pon2   Alliance of Genome Resources
familial hypercholesterolemia PPP1R17* Ppp1r17   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 1 ABCC8* Abcc8   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 2 KCNJ11* Kcnj11   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 4 HADH* Hadh   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 5 INSR* Insr   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 6 GLUD1*, GLUD2 Glud1   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 7 SLC16A1* Slc16a1   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 8 SLC25A36* Slc25a36   Alliance of Genome Resources
familial hyperlipidemia APOB* Apob   Alliance of Genome Resources
familial hyperlipidemia ABCB1* Abcb1a, Abcb1b   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 ABCG8* Abcg8   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 FGA* Fga   Alliance of Genome Resources
Fanconi-Bickel syndrome SLC2A2* Slc2a2   Alliance of Genome Resources
Finnish type amyloidosis GSN* Gsn   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 4 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 PKLR* Pklr   Alliance of Genome Resources
Gaucher's disease TNF* Tnf   Alliance of Genome Resources
Gaucher's disease perinatal lethal GBA1* Gba1   Alliance of Genome Resources
Gaucher's disease type III GBA1* Gba1   Alliance of Genome Resources
Gaucher's disease type IIIC GBA1* Gba1   Alliance of Genome Resources
gestational diabetes TCF7L2* Tcf7l2   Alliance of Genome Resources
gestational diabetes HNF1A* Hnf1a   Alliance of Genome Resources
gestational diabetes GCK* Gck   Alliance of Genome Resources
gestational diabetes GAD2* Gad2   Alliance of Genome Resources
gestational diabetes INSR* Insr   Alliance of Genome Resources
gestational diabetes IL6* Il6   Alliance of Genome Resources
gestational diabetes CDKAL1* Cdkal1   Alliance of Genome Resources
gestational diabetes UTS2* Uts2   Alliance of Genome Resources
Gilbert syndrome UGT1A1* Ugt1a1   Alliance of Genome Resources
glucose-galactose malabsorption SLC5A1* Slc5a1   Alliance of Genome Resources
glucose intolerance HNF1A* Hnf1a   Alliance of Genome Resources
glucose intolerance HSPD1* Hspd1   Alliance of Genome Resources
glucose intolerance NEUROG3* Neurog3   Alliance of Genome Resources
glucose intolerance NEUROD1* Neurod1   Alliance of Genome Resources
glucose intolerance PAX6* Pax6   Alliance of Genome Resources
glucose intolerance PON1* Pon1   Alliance of Genome Resources
glucose intolerance HLA-DQA1*, HLA-DQA2 H2-Aa   Alliance of Genome Resources
glucose intolerance APOC3* Apoc3   Alliance of Genome Resources
glucosephosphate dehydrogenase deficiency IFNG* Ifng   Alliance of Genome Resources
glucosephosphate dehydrogenase deficiency IL10* Il10   Alliance of Genome Resources
glucosephosphate dehydrogenase deficiency IL6* Il6   Alliance of Genome Resources
glucose transporter type 1 deficiency syndrome SLC2A1* Slc2a1   Alliance of Genome Resources
glucose transporter type 1 deficiency syndrome 2 SLC2A1* Slc2a1   Alliance of Genome Resources
glutamate-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
glycogen storage disease PYGL* Pygl   Alliance of Genome Resources
glycogen storage disease SLC2A2* Slc2a2   Alliance of Genome Resources
glycogen storage disease RBCK1* Rbck1   Alliance of Genome Resources
glycogen storage disease GYG1* Gyg1   Alliance of Genome Resources
glycogen storage disease GYS2* Gys2   Alliance of Genome Resources
glycogen storage disease PHKA1* Phka1   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 PRKAG2* Prkag2   Alliance of Genome Resources
glycogen storage disease Ib SLC37A4* Slc37a4   Alliance of Genome Resources
glycogen storage disease Ic SLC37A4* Slc37a4   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 MCOLN1* Mcoln1   Alliance of Genome Resources
glycoproteinosis GNPTG* Gnptg   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 HJV* Hjv   Alliance of Genome Resources
hemochromatosis TNF* Tnf   Alliance of Genome Resources
hemochromatosis TFR2* Tfr2   Alliance of Genome Resources
hemochromatosis HFE* Hfe   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* Hprt1   Alliance of Genome Resources
hydroxykynureninuria KYNU* Kynu   Alliance of Genome Resources
hyperalphalipoproteinemia 1 CETP*  
hyperglycemia SOD1* Sod1   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 CYP2C9*, CYP2C8, CYP2C18, CYP2C19 Cyp2c29, Cyp2c37, Cyp2c38, Cyp2c39, Cyp2c50, Cyp2c55, Cyp2c65, Cyp2c66   Alliance of Genome Resources
hyperglycemia CCL11* Ccl11   Alliance of Genome Resources
hyperglycemia TF* Trf   Alliance of Genome Resources
hyperglycemia PON1* Pon1   Alliance of Genome Resources
hyperhomocysteinemia MTHFR* Mthfr   Alliance of Genome Resources
hyperhomocysteinemia MTR* Mtr   Alliance of Genome Resources
hyperinsulinism PARL* Parl   Alliance of Genome Resources
hyperinsulinism GCK* Gck   Alliance of Genome Resources
hyperinsulinism AGT* Agt   Alliance of Genome Resources
hyperinsulinism CDKN1C* Cdkn1c   Alliance of Genome Resources
hyperinsulinism ABCC8* Abcc8   Alliance of Genome Resources
hyperinsulinism INS* Ins1, Ins2   Alliance of Genome Resources
hyperinsulinism PTPRF* Ptprf   Alliance of Genome Resources
hyperinsulinism KCNJ11* Kcnj11   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 MTTP* Mttp   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
hypervalinemia and hyperleucine-isoleucinemia BCAT2* Bcat2   Alliance of Genome Resources
hypobetalipoproteinemia APOB* Apob   Alliance of Genome Resources
hypobetalipoproteinemia PCSK9* Pcsk9   Alliance of Genome Resources
hypoglycemia HNF4A* Hnf4a   Alliance of Genome Resources
hypoglycemia PPP1R3A* Ppp1r3a   Alliance of Genome Resources
hypoglycemia UCP3* Ucp3   Alliance of Genome Resources
hypoglycemia GLUD1*, GLUD2 Glud1   Alliance of Genome Resources
hypoglycemia CYP2C9*, CYP2C8, CYP2C18, CYP2C19 Cyp2c29, Cyp2c37, Cyp2c38, Cyp2c39, Cyp2c50, Cyp2c55, Cyp2c65, Cyp2c66   Alliance of Genome Resources
hypoglycemia AKT2* Akt2   Alliance of Genome Resources
hypoglycemia AGTR2* Agtr2   Alliance of Genome Resources
hypoglycemia GCK* Gck   Alliance of Genome Resources
hypoinsulinemic hypoglycemia with hemihypertrophy AKT2* Akt2   Alliance of Genome Resources
hypokalemic periodic paralysis KCNE3* Kcne3   Alliance of Genome Resources
hypolipoproteinemia ABCA1* Abca1   Alliance of Genome Resources
hypolipoproteinemia APOA1* Apoa1   Alliance of Genome Resources
immunodeficiency 47 ATP6AP1* Atp6ap1   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 FMO3* Fmo3   Alliance of Genome Resources
inherited metabolic disorder GPHN* Gphn   Alliance of Genome Resources
inherited metabolic disorder HSD11B2* Hsd11b2   Alliance of Genome Resources
inherited metabolic disorder LIG1* Lig1   Alliance of Genome Resources
inherited metabolic disorder MMAB* Mmab   Alliance of Genome Resources
inherited metabolic disorder NDUFS1* Ndufs1   Alliance of Genome Resources
inherited metabolic disorder NDUFS2* Ndufs2   Alliance of Genome Resources
inherited metabolic disorder SLC22A5* Slc22a5, Slc22a21   Alliance of Genome Resources
inherited metabolic disorder SLC25A19* Slc25a19   Alliance of Genome Resources
inherited metabolic disorder SUOX* Suox   Alliance of Genome Resources
inherited metabolic disorder TBX19* Tbx19   Alliance of Genome Resources
inherited metabolic disorder UQCRB* Uqcrb   Alliance of Genome Resources
inherited metabolic disorder TPK1* Tpk1   Alliance of Genome Resources
intestinal hypomagnesemia 1 TRPM6* Trpm6   Alliance of Genome Resources
isolated elevated serum creatine phosphokinase levels CAV3* Cav3   Alliance of Genome Resources
isolated elevated serum creatine phosphokinase levels ANO5* Ano5   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 SDHA* Sdha   Alliance of Genome Resources
Leigh disease NDUFS2* Ndufs2   Alliance of Genome Resources
Leigh disease ND6* mt-Nd6   Alliance of Genome Resources
Leigh disease ND5* mt-Nd5   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
Lesch-Nyhan syndrome XDH* Xdh   Alliance of Genome Resources
lethal congenital glycogen storage disease of heart PRKAG2* Prkag2   Alliance of Genome Resources
leucine-sensitive hypoglycemia of infancy ABCC8* Abcc8   Alliance of Genome Resources
lipid metabolism disorder CPT1A* Cpt1a   Alliance of Genome Resources
lipid metabolism disorder DHCR24* Dhcr24   Alliance of Genome Resources
lipid metabolism disorder CPT2* Cpt2   Alliance of Genome Resources
lipid metabolism disorder PPARA* Ppara   Alliance of Genome Resources
lipid metabolism disorder NPY5R* Npy5r   Alliance of Genome Resources
lipid metabolism disorder MVK* Mvk   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 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
metabolic dysfunction-associated steatohepatitis HTR2B* Htr2b   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis SOD2* Sod2   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis SERPINF1* Serpinf1   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis LEPR* Lepr   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis IL10* Il10   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis IL6* Il6   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis APOA1* Apoa1   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease MTHFR* Mthfr   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease DGAT2* Dgat2   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease CCR2* Ccr2   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease ALDH2* Aldh2   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease AKT1* Akt1   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease ADRB3* Adrb3   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease ADIPOR2* Adipor2   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease ADIPOQ* Adipoq   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease ABCC2* Abcc2   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease IL1B* Il1b   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease IL6* Il6   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease MTTP* Mttp   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease PPARGC1A* Ppargc1a   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease IFNL4*  
metabolic dysfunction-associated steatotic liver disease SAMM50* Samm50   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease SOD2* Sod2   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease TG* Tg   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease HFE* Hfe   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
Mitchell syndrome ACOX1* Acox1   Alliance of Genome Resources
mitochondrial complex I deficiency NDUFS1* Ndufs1   Alliance of Genome Resources
mitochondrial complex II deficiency SDHAF1* Sdhaf1   Alliance of Genome Resources
mitochondrial complex II deficiency SDHA* Sdha   Alliance of Genome Resources
mitochondrial complex II deficiency SDHD* Sdhd   Alliance of Genome Resources
mitochondrial complex II deficiency SDHB* Sdhb   Alliance of Genome Resources
mitochondrial complex III deficiency UQCRH*, UQCRHL Uqcrh, Uqcrh-ps1   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 IV deficiency nuclear type 1 SURF1* Surf1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 10 COX14* Cox14   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 11 COX20* Cox20   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 12 PET100* Pet100   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 13 COA6* Coa6   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 14 COA3* Coa3   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 15 COX8A* Cox8a   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 16 COX4I1* Cox4i1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 17 COA8* Coa8   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 18 COX6A2* Cox6a2   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 19 PET117* Pet117   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 2 SCO2* Sco2   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 20 COX5A* Cox5a   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 21 NDUFA4* Ndufa4   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 22 COX16* Cox16   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 23 COX11* Cox11   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 3 COX10* Cox10   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 4 SCO1* Sco1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 6 COX15* Cox15   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 7 COX6B1* Cox6b1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 8 TACO1* Taco1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 9 COA5* Coa5   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 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 Atp5f1e   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A ATP5F1A* Atp5f1a   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B ATP5F1A* Atp5f1a   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 5 ATP5F1D* Atp5f1d   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ATP5MK* Atp5mk   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 7 ATP5PO* Atp5po   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 1 TYMP* Tymp 1 model Alliance of Genome Resources
mitochondrial DNA depletion syndrome 11 MGME1* Mgme1   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 12a SLC25A4* Slc25a4   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 12b SLC25A4* Slc25a4   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 13 FBXL4* Fbxl4   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 14 OPA1* Opa1   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 15 TFAM* Tfam   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 16 POLG2* Polg2   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 16B POLG2* Polg2   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 17 MRM2* Mrm2   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 18 SLC25A21* Slc25a21   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 19 SLC25A10* Slc25a10   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 20 LIG3* Lig3   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 3 DGUOK* Dguok   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 4b POLG* Polg   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 6 MPV17* Mpv17   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 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 MCCC2* Mccc2   Alliance of Genome Resources
mitochondrial metabolism disease HADHB* Hadhb   Alliance of Genome Resources
mitochondrial pyruvate carrier deficiency MPC1* Mpc1   Alliance of Genome Resources
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency ECHS1* Echs1   Alliance of Genome Resources
mitochondrial trifunctional protein deficiency HADHB* Hadhb   Alliance of Genome Resources
mitochondrial trifunctional protein deficiency HADHA* Hadha   Alliance of Genome Resources
molybdenum cofactor deficiency type C GPHN* Gphn   Alliance of Genome Resources
mucolipidosis NEU1* Neu1   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 congenital anomalies-hypotonia-seizures syndrome 4 PIGQ* Pigq   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome GCSH* Gcsh   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* Atp6-ps, 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
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities SHMT2* Shmt2   Alliance of Genome Resources
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties DPH5* Dph5   Alliance of Genome Resources
neurodevelopmental disorder with spastic paraplegia and microcephaly GPT2* Gpt2   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
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
nuclear type mitochondrial complex I deficiency NDUFA8* Ndufa8   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency NDUFB7* Ndufb7   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
oxoglutarate dehydrogenase deficiency OGDH* Ogdh   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 disease PHYH* Phyh   Alliance of Genome Resources
peroxisome biogenesis disorder 10A PEX3* Pex3   Alliance of Genome Resources
Peroxisome biogenesis disorder 10B PEX3* Pex3   Alliance of Genome Resources
peroxisome biogenesis disorder 11A PEX13* Pex13   Alliance of Genome Resources
Peroxisome biogenesis disorder 11B PEX13* Pex13   Alliance of Genome Resources
peroxisome biogenesis disorder 12A PEX19* Pex19   Alliance of Genome Resources
peroxisome biogenesis disorder 13A PEX14* Pex14   Alliance of Genome Resources
peroxisome biogenesis disorder 14B PEX11B* Pex11b   Alliance of Genome Resources
peroxisome biogenesis disorder 1A PEX1* Pex1   Alliance of Genome Resources
peroxisome biogenesis disorder 1B PEX1* Pex1   Alliance of Genome Resources
peroxisome biogenesis disorder 2A PEX5* Pex5   Alliance of Genome Resources
peroxisome biogenesis disorder 2B PEX5* Pex5   Alliance of Genome Resources
peroxisome biogenesis disorder 3A PEX12* Pex12   Alliance of Genome Resources
peroxisome biogenesis disorder 3B PEX12* Pex12   Alliance of Genome Resources
peroxisome biogenesis disorder 4A PEX6* Pex6   Alliance of Genome Resources
Peroxisome biogenesis disorder 4B PEX6* Pex6   Alliance of Genome Resources
peroxisome biogenesis disorder 5A PEX2* Pex2   Alliance of Genome Resources
Peroxisome biogenesis disorder 5B PEX2* Pex2   Alliance of Genome Resources
peroxisome biogenesis disorder 6A PEX10* Pex10   Alliance of Genome Resources
Peroxisome biogenesis disorder 6B PEX10* Pex10   Alliance of Genome Resources
peroxisome biogenesis disorder 7A PEX26* Pex26   Alliance of Genome Resources
Peroxisome biogenesis disorder 7B PEX26* Pex26   Alliance of Genome Resources
peroxisome biogenesis disorder 8A PEX16* Pex16   Alliance of Genome Resources
Peroxisome biogenesis disorder 8B PEX16* Pex16   Alliance of Genome Resources
Peroxisome biogenesis disorder 9B PEX7* Pex7   Alliance of Genome Resources
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
poor metabolism of thiopurines NUDT15* Nudt15   Alliance of Genome Resources
porphyria EPO* Epo   Alliance of Genome Resources
porphyria cutanea tarda GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
porphyria cutanea tarda ALAD* Alad   Alliance of Genome Resources
porphyria cutanea tarda CYP1A1* Cyp1a1   Alliance of Genome Resources
porphyria cutanea tarda CYP1A2* Cyp1a2   Alliance of Genome Resources
porphyria cutanea tarda HFE* Hfe 1 model Alliance of Genome Resources
porphyria cutanea tarda UROD* Urod 1 model Alliance of Genome Resources
prediabetes syndrome PTPRN2* Ptprn2   Alliance of Genome Resources
prediabetes syndrome IL6* Il6   Alliance of Genome Resources
prediabetes syndrome UCP3* Ucp3   Alliance of Genome Resources
prediabetes syndrome GCG* Gcg   Alliance of Genome Resources
prediabetes syndrome CCR2* Ccr2   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 GNAS-AS1* Gnasas1   Alliance of Genome Resources
pseudohypoparathyroidism type IB STX16* Stx16   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 PNP* Pnp, Pnp2   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
pyridoxamine 5'-phosphate oxidase deficiency PNPO* Pnpo   Alliance of Genome Resources
pyruvate carboxylase deficiency disease PC* Pcx   Alliance of Genome Resources
pyruvate decarboxylase deficiency PDHX* Pdhx   Alliance of Genome Resources
pyruvate decarboxylase deficiency PDHB* Pdhb   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 PDP1* Pdp1   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
renal hypomagnesemia 7, with or without dilated cardiomyopathy RRAGD* Rragd   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
Siddiqi syndrome FITM2* Fitm2   Alliance of Genome Resources
sphingolipidosis ASAH1* Asah1   Alliance of Genome Resources
steatotic liver disease MTHFR* Mthfr   Alliance of Genome Resources
steatotic liver disease PNPLA3* Pnpla3   Alliance of Genome Resources
steatotic liver disease PRKCD* Prkcd   Alliance of Genome Resources
steatotic liver disease VDR* Vdr   Alliance of Genome Resources
steatotic liver disease ADRB2* Adrb2   Alliance of Genome Resources
steatotic liver disease CYP2E1* Cyp2e1   Alliance of Genome Resources
steatotic liver disease HADHA* Hadha   Alliance of Genome Resources
steatotic liver disease HTR2A* Htr2a   Alliance of Genome Resources
steatotic liver disease HTR2B* Htr2b   Alliance of Genome Resources
succinic semialdehyde dehydrogenase deficiency ALDH5A1* Aldh5a1   Alliance of Genome Resources
transcobalamin II deficiency TCN2* Tcn2   Alliance of Genome Resources
trimethylaminuria FMO3* Fmo3   Alliance of Genome Resources
type 1 diabetes mellitus XYLT1* Xylt1   Alliance of Genome Resources
type 1 diabetes mellitus WFS1* Wfs1   Alliance of Genome Resources
type 1 diabetes mellitus TF* Trf   Alliance of Genome Resources
type 1 diabetes mellitus TNF* Tnf   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   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   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 2 models Alliance of Genome Resources
type 1 diabetes mellitus CD28* Cd28   Alliance of Genome Resources
type 1 diabetes mellitus CCR2* Ccr2   Alliance of Genome Resources
type 1 diabetes mellitus CCL5* Ccl5   Alliance of Genome Resources
type 1 diabetes mellitus CBLB* Cblb   Alliance of Genome Resources
type 1 diabetes mellitus BTC* Btc   Alliance of Genome Resources
type 1 diabetes mellitus BCHE* Bche   Alliance of Genome Resources
type 1 diabetes mellitus BANK1* Bank1   Alliance of Genome Resources
type 1 diabetes mellitus APOM* Apom   Alliance of Genome Resources
type 1 diabetes mellitus APOC3* Apoc3   Alliance of Genome Resources
type 1 diabetes mellitus ALDH2* Aldh2   Alliance of Genome Resources
type 1 diabetes mellitus AIF1* Aif1   Alliance of Genome Resources
type 1 diabetes mellitus AGER* Ager 1 model Alliance of Genome Resources
type 1 diabetes mellitus ACP1* Acp1   Alliance of Genome Resources
type 1 diabetes mellitus ACE* Ace   Alliance of Genome Resources
type 1 diabetes mellitus 10 IL2RA* Il2ra   Alliance of Genome Resources
type 1 diabetes mellitus 12 CTLA4* Ctla4   Alliance of Genome Resources
type 1 diabetes mellitus 2 INS* Ins1, Ins2   Alliance of Genome Resources
type 1 diabetes mellitus 20 HNF1A* Hnf1a   Alliance of Genome Resources
type 1 diabetes mellitus 22 CCR5* Ccr5   Alliance of Genome Resources
type 1 diabetes mellitus 5 SUMO4*  
type 2 diabetes mellitus FOXA2* Foxa2   Alliance of Genome Resources
type 2 diabetes mellitus FFAR1* Ffar1   Alliance of Genome Resources
type 2 diabetes mellitus FASLG* Fasl   Alliance of Genome Resources
type 2 diabetes mellitus FABP3* Fabp3   Alliance of Genome Resources
type 2 diabetes mellitus F7* F7   Alliance of Genome Resources
type 2 diabetes mellitus ESR1* Esr1   Alliance of Genome Resources
type 2 diabetes mellitus ENPP1* Enpp1   Alliance of Genome Resources
type 2 diabetes mellitus DRD2* Drd2   Alliance of Genome Resources
type 2 diabetes mellitus DPP4* Dpp4   Alliance of Genome Resources
type 2 diabetes mellitus CYP11B2*, CYP11B1 Cyp11b1, Cyp11b2   Alliance of Genome Resources
type 2 diabetes mellitus CYP2C9*, CYP2C8, CYP2C18, CYP2C19 Cyp2c29, Cyp2c37, Cyp2c38, Cyp2c39, Cyp2c50, Cyp2c55, Cyp2c65, Cyp2c66   Alliance of Genome Resources
type 2 diabetes mellitus CYP1A1* Cyp1a1   Alliance of Genome Resources
type 2 diabetes mellitus CPE* Cpe   Alliance of Genome Resources
type 2 diabetes mellitus NEUROD1* Neurod1   Alliance of Genome Resources
type 2 diabetes mellitus CNR1* Cnr1   Alliance of Genome Resources
type 2 diabetes mellitus CLPS* Clps   Alliance of Genome Resources
type 2 diabetes mellitus CEL* Cel   Alliance of Genome Resources
type 2 diabetes mellitus CDK4* Cdk4   Alliance of Genome Resources
type 2 diabetes mellitus CD38* Cd38   Alliance of Genome Resources
type 2 diabetes mellitus CD36* Cd36   Alliance of Genome Resources
type 2 diabetes mellitus CASQ1* Casq1   Alliance of Genome Resources
type 2 diabetes mellitus CASP9* Casp9   Alliance of Genome Resources
type 2 diabetes mellitus CAPN10* Capn10   Alliance of Genome Resources
type 2 diabetes mellitus CADM2* Cadm2   Alliance of Genome Resources
type 2 diabetes mellitus CACNA1D* Cacna1d   Alliance of Genome Resources
type 2 diabetes mellitus BTC* Btc   Alliance of Genome Resources
type 2 diabetes mellitus BMAL2* Bmal2   Alliance of Genome Resources
type 2 diabetes mellitus BCHE* Bche   Alliance of Genome Resources
type 2 diabetes mellitus AXL* Axl   Alliance of Genome Resources
type 2 diabetes mellitus APOM* Apom   Alliance of Genome Resources
type 2 diabetes mellitus APOD* Apod   Alliance of Genome Resources
type 2 diabetes mellitus APOB* Apob   Alliance of Genome Resources
type 2 diabetes mellitus APOA5* Apoa5   Alliance of Genome Resources
type 2 diabetes mellitus NEUROG3* Neurog3   Alliance of Genome Resources
type 2 diabetes mellitus ALDOB* Aldob   Alliance of Genome Resources
type 2 diabetes mellitus ALDH2* Aldh2   Alliance of Genome Resources
type 2 diabetes mellitus AKR1B1* Akr1b1   Alliance of Genome Resources
type 2 diabetes mellitus AHSG* Ahsg   Alliance of Genome Resources
type 2 diabetes mellitus NOS2* Nos2   Alliance of Genome Resources
type 2 diabetes mellitus AGRP* Agrp   Alliance of Genome Resources
type 2 diabetes mellitus AGER* Ager   Alliance of Genome Resources
type 2 diabetes mellitus ADRB3* Adrb3   Alliance of Genome Resources
type 2 diabetes mellitus ADRA2B* Adra2b   Alliance of Genome Resources
type 2 diabetes mellitus NPY* Npy   Alliance of Genome Resources
type 2 diabetes mellitus ADRA2A* Adra2a   Alliance of Genome Resources
type 2 diabetes mellitus ADIPOR2* Adipor2   Alliance of Genome Resources
type 2 diabetes mellitus ADIPOQ* Adipoq   Alliance of Genome Resources
type 2 diabetes mellitus ADAM17* Adam17   Alliance of Genome Resources
type 2 diabetes mellitus ACP1* Acp1   Alliance of Genome Resources
type 2 diabetes mellitus NR0B2* Nr0b2   Alliance of Genome Resources
type 2 diabetes mellitus ACE* Ace   Alliance of Genome Resources
type 2 diabetes mellitus NR1H2* Nr1h2   Alliance of Genome Resources
type 2 diabetes mellitus ABCC8* Abcc8   Alliance of Genome Resources
type 2 diabetes mellitus ABCB1* Abcb1a, Abcb1b   Alliance of Genome Resources
type 2 diabetes mellitus ABCA1* Abca1   Alliance of Genome Resources
type 2 diabetes mellitus P2RY12* P2ry12   Alliance of Genome Resources
type 2 diabetes mellitus PARL* Parl   Alliance of Genome Resources
type 2 diabetes mellitus PAX4* Pax4   Alliance of Genome Resources
type 2 diabetes mellitus PCK1* Pck1   Alliance of Genome Resources
type 2 diabetes mellitus PCSK2* Pcsk2   Alliance of Genome Resources
type 2 diabetes mellitus PDX1* Pdx1 1 model Alliance of Genome Resources
type 2 diabetes mellitus PIK3C2G* Pik3c2g   Alliance of Genome Resources
type 2 diabetes mellitus PIK3R1* Pik3r1   Alliance of Genome Resources
type 2 diabetes mellitus PKLR* Pklr   Alliance of Genome Resources
type 2 diabetes mellitus PLA2G7* Pla2g7   Alliance of Genome Resources
type 2 diabetes mellitus GHRL* Ghrl   Alliance of Genome Resources
type 2 diabetes mellitus GFPT2* Gfpt2   Alliance of Genome Resources
type 2 diabetes mellitus GCKR* Gckr   Alliance of Genome Resources
type 2 diabetes mellitus GCH1* Gch1   Alliance of Genome Resources
type 2 diabetes mellitus GCGR* Gcgr   Alliance of Genome Resources
type 2 diabetes mellitus FXN* Fxn   Alliance of Genome Resources
type 2 diabetes mellitus FTO* Fto   Alliance of Genome Resources
type 2 diabetes mellitus MTNR1B* Mtnr1b   Alliance of Genome Resources
type 2 diabetes mellitus MTOR* Mtor   Alliance of Genome Resources
type 2 diabetes mellitus FOXC2* Foxc2   Alliance of Genome Resources
type 2 diabetes mellitus HFE* Hfe   Alliance of Genome Resources
type 2 diabetes mellitus HLA-DQA1*, HLA-DQA2 H2-Aa   Alliance of Genome Resources
type 2 diabetes mellitus GSTT1* Gstt1   Alliance of Genome Resources
type 2 diabetes mellitus GSTP1* Gstp1, Gstp2, Gstp3, Gstp-ps   Alliance of Genome Resources
type 2 diabetes mellitus GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
type 2 diabetes mellitus GRB14* Grb14   Alliance of Genome Resources
type 2 diabetes mellitus GPX3* Gpx3   Alliance of Genome Resources
type 2 diabetes mellitus GPD2* Gpd2   Alliance of Genome Resources
type 2 diabetes mellitus GP6* Gp6   Alliance of Genome Resources
type 2 diabetes mellitus GNB3* Gnb3   Alliance of Genome Resources
type 2 diabetes mellitus GLO1* Glo1   Alliance of Genome Resources
type 2 diabetes mellitus LPL* Lpl   Alliance of Genome Resources
type 2 diabetes mellitus LTA* Lta   Alliance of Genome Resources
type 2 diabetes mellitus MAPK8* Mapk8   Alliance of Genome Resources
type 2 diabetes mellitus MAPK8IP1* Mapk8ip1   Alliance of Genome Resources
type 2 diabetes mellitus MAPK9* Mapk9   Alliance of Genome Resources
type 2 diabetes mellitus MT2A*, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1L, MT1M, MT1X Mt1, Mt2   Alliance of Genome Resources
type 2 diabetes mellitus ND1* mt-Nd1   Alliance of Genome Resources
type 2 diabetes mellitus MTHFR* Mthfr   Alliance of Genome Resources
type 2 diabetes mellitus GIP* Gip   Alliance of Genome Resources
type 2 diabetes mellitus GHR* Ghr   Alliance of Genome Resources
type 2 diabetes mellitus PLAT* Plat   Alliance of Genome Resources
type 2 diabetes mellitus PNPLA3* Pnpla3   Alliance of Genome Resources
type 2 diabetes mellitus PON1* Pon1   Alliance of Genome Resources
type 2 diabetes mellitus PON2* Pon2   Alliance of Genome Resources
type 2 diabetes mellitus PPARG* Pparg   Alliance of Genome Resources
type 2 diabetes mellitus STAT3* Stat3   Alliance of Genome Resources
type 2 diabetes mellitus TCF7L2* Tcf7l2   Alliance of Genome Resources
type 2 diabetes mellitus TLR4* Tlr4   Alliance of Genome Resources
type 2 diabetes mellitus UBE2E2* Ube2e2   Alliance of Genome Resources
type 2 diabetes mellitus UCP1* Ucp1   Alliance of Genome Resources
type 2 diabetes mellitus UCP3* Ucp3   Alliance of Genome Resources
type 2 diabetes mellitus PPARGC1A* Ppargc1a   Alliance of Genome Resources
type 2 diabetes mellitus PRKAA2* Prkaa2   Alliance of Genome Resources
type 2 diabetes mellitus PTH* Pth   Alliance of Genome Resources
type 2 diabetes mellitus PTPN1* Ptpn1   Alliance of Genome Resources
type 2 diabetes mellitus PTPRD* Ptprd   Alliance of Genome Resources
type 2 diabetes mellitus RBP4* Rbp4   Alliance of Genome Resources
type 2 diabetes mellitus RETN* Retn   Alliance of Genome Resources
type 2 diabetes mellitus RRAD* Rrad   Alliance of Genome Resources
type 2 diabetes mellitus SERPINF1* Serpinf1   Alliance of Genome Resources
type 2 diabetes mellitus SGCG* Sgcg   Alliance of Genome Resources
type 2 diabetes mellitus SHBG* Shbg   Alliance of Genome Resources
type 2 diabetes mellitus SLC2A1* Slc2a1   Alliance of Genome Resources
type 2 diabetes mellitus SLC30A8* Slc30a8   Alliance of Genome Resources
type 2 diabetes mellitus SOD1* Sod1   Alliance of Genome Resources
type 2 diabetes mellitus SOD2* Sod2   Alliance of Genome Resources
type 2 diabetes mellitus SOD3* Sod3   Alliance of Genome Resources
type 2 diabetes mellitus SORBS1* Sorbs1   Alliance of Genome Resources
type 2 diabetes mellitus SPHK1* Sphk1   Alliance of Genome Resources
type 2 diabetes mellitus SRC* Src   Alliance of Genome Resources
type 2 diabetes mellitus SREBF1* Srebf1   Alliance of Genome Resources
type 2 diabetes mellitus SREBF2* Srebf2   Alliance of Genome Resources
type 2 diabetes mellitus USF1* Usf1   Alliance of Genome Resources
type 2 diabetes mellitus UTS2* Uts2   Alliance of Genome Resources
type 2 diabetes mellitus XRCC1* Xrcc1   Alliance of Genome Resources
type 2 diabetes mellitus VPS26A* Vps26a   Alliance of Genome Resources
type 2 diabetes mellitus WFS1* Wfs1   Alliance of Genome Resources
type 2 diabetes mellitus LIPC* Lipc   Alliance of Genome Resources
type 2 diabetes mellitus KLF11* Klf11   Alliance of Genome Resources
type 2 diabetes mellitus KIF6* Kif6   Alliance of Genome Resources
type 2 diabetes mellitus LMNA* Lmna   Alliance of Genome Resources
type 2 diabetes mellitus KCNQ1* Kcnq1   Alliance of Genome Resources
type 2 diabetes mellitus KCNJ11* Kcnj11   Alliance of Genome Resources
type 2 diabetes mellitus ITGA2* Itga2   Alliance of Genome Resources
type 2 diabetes mellitus ISL1* Isl1   Alliance of Genome Resources
type 2 diabetes mellitus INSR* Insr 1 model Alliance of Genome Resources
type 2 diabetes mellitus INPPL1* Inppl1   Alliance of Genome Resources
type 2 diabetes mellitus IL10* Il10   Alliance of Genome Resources
type 2 diabetes mellitus IL6* Il6   Alliance of Genome Resources
type 2 diabetes mellitus IL1RN* Il1rn   Alliance of Genome Resources
type 2 diabetes mellitus IL1B* Il1b   Alliance of Genome Resources
type 2 diabetes mellitus IKBKB* Ikbkb   Alliance of Genome Resources
type 2 diabetes mellitus IGFBP3* Igfbp3   Alliance of Genome Resources
type 2 diabetes mellitus IGF2R* Igf2r   Alliance of Genome Resources
type 2 diabetes mellitus IGF2BP2* Igf2bp2   Alliance of Genome Resources
type 2 diabetes mellitus IGF1* Igf1   Alliance of Genome Resources
type 2 diabetes mellitus IFNG* Ifng   Alliance of Genome Resources
type 2 diabetes mellitus IDE* Ide   Alliance of Genome Resources
type 2 diabetes mellitus HSPA1B*, HSPA1A Hspa1a, Hspa1b   Alliance of Genome Resources
type 2 diabetes mellitus HSD11B1* Hsd11b1   Alliance of Genome Resources
type 2 diabetes mellitus HNF4A* Hnf4a   Alliance of Genome Resources
type 2 diabetes mellitus HNF1B* Hnf1b   Alliance of Genome Resources
type 2 diabetes mellitus HMOX1* Hmox1   Alliance of Genome Resources
type 2 diabetes mellitus HMGCR* Hmgcr   Alliance of Genome Resources
type 2 diabetes mellitus HK2* Hk2   Alliance of Genome Resources
type 2 diabetes mellitus HIF1A* Hif1a   Alliance of Genome Resources
tyrosinemia TAT* Tat   Alliance of Genome Resources
tyrosinemia type II TAT* Tat   Alliance of Genome Resources
urocanase deficiency UROC1* Uroc1   Alliance of Genome Resources
vitamin B12 deficiency FUT2*, SEC1P Fut2, Sec1   Alliance of Genome Resources
warfarin resistance CYP2C9*, CYP2C8, CYP2C18, CYP2C19 Cyp2c29, Cyp2c37, Cyp2c38, Cyp2c39, Cyp2c50, Cyp2c55, Cyp2c65, Cyp2c66   Alliance of Genome Resources
warfarin resistance VKORC1* Vkorc1   Alliance of Genome Resources
xanthinuria type I XDH* Xdh   Alliance of Genome Resources
X-linked warfarin sensitivity F9* F9   Alliance of Genome Resources
Zellweger syndrome PHYH* Phyh   Alliance of Genome Resources
Zellweger syndrome NR5A1* Nr5a1   Alliance of Genome Resources
Zellweger syndrome ABCD3* Abcd3   Alliance of Genome Resources

 
Transgenes and other genome features developed in mice to model this disease.
     Disease Term Transgenes and Other Genome Features Mouse Models
  alpha 1-antitrypsin deficiency Tg(SERPINA1*E342K)#Slcw 1 model
  alpha 1-antitrypsin deficiency Serpina1 1 model
  cerebral amyloid angiopathy Tg(Prnp-ITM2B*)7Jckr 1 model
  cerebral amyloid angiopathy Tg(Thy1-APPSwDutIowa)BWevn 1 model
  cerebral amyloid angiopathy Tg(Thy1-APPDutch)#Jckr 4 models
  cerebral amyloid angiopathy Tg(Thy1-APP)3Somm 1 model
  cerebral amyloid angiopathy Tg(Prnp-ITM2B*)1Ruvi 3 models
  cerebral amyloid angiopathy Tg(Prnp-APPSweArc)#Rmni 1 model
  cerebral amyloid angiopathy Tg(APPswe,PSEN1dE9)85Dbo 2 models
  cerebral amyloid angiopathy Tg(Thy1-APPSwe,Prnp-PSEN2*N141I)152HLaoz 2 models
  Crigler-Najjar syndrome Ugt1 2 models
  diabetes mellitus Tg(Myh6-Ppara)404-3Dpk 1 model
  diabetes mellitus Rr124128 2 models
  diabetes mellitus Tg(Myh6-Ppara)402-2Dpk 1 model
  Finnish type amyloidosis Tg(Ckm-GSN*D187N)AJewe 2 models
  hyperinsulinemic hypoglycemia Tg(Ins2-GLUD1*H454Y)2Csta 1 model
  hyperinsulinemic hypoglycemia Tg(Ins2-GLUD1*H454Y)1Csta 1 model
  lethal congenital glycogen storage disease of heart Tg(Myh6/tetO-PRKAG2*N488I)1Chib 1 model
  lethal congenital glycogen storage disease of heart Tg(Myh6-PRKAG2*T400N)1Feah 1 model
  maturity-onset diabetes of the young type 3 Tg(Ins2-Hnf1a)#Cbw 1 model
  maturity-onset diabetes of the young type 3 Tg(Ins2-TCF1*P291)2Kya 1 model
  metabolic dysfunction-associated steatotic liver disease Tg(Alb-SREBF1_ic)#Jkot 1 model
  metabolic dysfunction-associated steatotic liver disease Tg(aP2-SREBF1c)9884Reh 1 model
  methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Tg(Alb-Mut)#Cpv 1 model
  pseudohypoparathyroidism Del(2Nespas-Gnas)1Hju 1 model
  renal hypomagnesemia 3 Tg(RNU6-RNAi:Cldn16)551Dago 1 model
  Sandhoff disease Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa 1 model
  Sandhoff disease Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa 1 model
  steatotic liver disease Tg(Alb-PDGFC)#Jcam 1 model
  steatotic liver disease Tg(Mup3-Plau)350-2Eps 1 model
  Tangier disease Tg(CMV-EGFP,Rnu6-siAbca1)#Wcyy 1 model
  transient neonatal diabetes mellitus Tg(RP3-340H11)29Kel 1 model
  transthyretin amyloidosis Tg(TTR-V30M)15Imeg 3 models
  transthyretin amyloidosis Tg(TTR)#Jbux 1 model
  type 1 diabetes mellitus H2-I 1 model
  type 1 diabetes mellitus Tcra 13 models
  type 1 diabetes mellitus Tg(Cryaa-TAg,Ins2-CALM1)26Ove 2 models
  type 1 diabetes mellitus Tg(H2-Ea-G6pc2)69Tkay 1 model
  type 1 diabetes mellitus Tg(H2-Ea-Ins2)1Wehi 1 model
  type 1 diabetes mellitus Tg(H2-Ead)12Lt 1 model
  type 1 diabetes mellitus Tg(HLA-A/H2-D/B2M)1Dvs 2 models
  type 1 diabetes mellitus Tg(Igh-6/Igh-V281)3Jwt 2 models
  type 1 diabetes mellitus Tg(Igh-VB1-8/Igh-6m)1Mjsk 1 model
  type 1 diabetes mellitus Tg(IghelMD4)4Ccg 1 model
  type 1 diabetes mellitus Tg(Ins1-Cat,Tyr)25Pne 2 models
  type 1 diabetes mellitus Tg(Ins2*Y16A)3Ell 1 model
  type 1 diabetes mellitus Tg(Ins2-CD80)3B7Flv 4 models
  type 1 diabetes mellitus Tg(Ins2-Fasl)24Ach 3 models
  type 1 diabetes mellitus Tg(Ins2-GP)34-20Olds 2 models
  type 1 diabetes mellitus Tg(Ins2-HBEGF)5Rin 1 model
  type 1 diabetes mellitus Tg(Ins2-Nos2)31Okam 1 model
  type 1 diabetes mellitus Tg(Ins2-Nos2)40Okam 4 models
  type 1 diabetes mellitus Tg(Ins2-NP)25-3Olds 2 models
  type 1 diabetes mellitus Tg(INS-MT2A,Tyr)1Pne 2 models
  type 1 diabetes mellitus Tg(TcraTcrbNY8.3)1Pesa 1 model
  type 1 diabetes mellitus Tg(TcraAI4)1Dvs 5 models
  type 1 diabetes mellitus Tg(INS-SOD2)3Pne 1 model
  type 1 diabetes mellitus 2 Tg(Ins-Igf2)1Fbos 3 models
  type 2 diabetes mellitus Tg(aP2-SREBF1c)9884Reh 1 model
  type 2 diabetes mellitus Tg(Ckm-IGF1R*K1003R)1Dlr 1 model
  type 2 diabetes mellitus Tg(Ins2-IAPP)L13Gjsc 1 model
  type 2 diabetes mellitus Tg(Mafg-Nfe2l1)1Mym 1 model
  type 2 diabetes mellitus Tg(Mafg-Nfe2l1)6Mym 1 model
  type 2 diabetes mellitus Tg(UcpDta)1Kz 2 models
  type 2 diabetes mellitus Timo 1 model