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