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.
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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 |