disease of metabolism Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A disease that involving errors in metabolic processes of building or degradation of molecules. (Human Disease Ontology, DOID_0014667)
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Genes

405 genes involed in the disease disease of metabolism from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AASS aminoadipate-semialdehyde synthase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABHD5 abhydrolase domain containing 5
ADAM10 ADAM metallopeptidase domain 10
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRB3 adrenoceptor beta 3
AGA aspartylglucosaminidase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGRP agouti related neuropeptide
AGXT alanine-glyoxylate aminotransferase
AHCY adenosylhomocysteinase
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDOA aldolase A, fructose-bisphosphate
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG12 ALG12, alpha-1,6-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALG9 ALG9, alpha-1,2-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
AMT aminomethyltransferase
ANGPTL3 angiopoietin-like 3
APOA1 apolipoprotein A-I
APOB apolipoprotein B
APOC2 apolipoprotein C-II
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ARG1 arginase 1
ARL6 ADP-ribosylation factor-like 6
ARSA arylsulfatase A
ARSB arylsulfatase B
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATP13A2 ATPase type 13A2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
B2M beta-2-microglobulin
B3GALTL beta 1,3-galactosyltransferase-like
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BLK BLK proto-oncogene, Src family tyrosine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTD biotinidase
C10ORF2 chromosome 10 open reading frame 2
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAPN10 calpain 10
CARTPT CART prepropeptide
CAT catalase
CBS cystathionine-beta-synthase
CCDC28B coiled-coil domain containing 28B
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD38 CD38 molecule
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1
CEL carboxyl ester lipase
CEP19 centrosomal protein 19kDa
CEP290 centrosomal protein 290kDa
CISD2 CDGSH iron sulfur domain 2
CLCN5 chloride channel, voltage-sensitive 5
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLPS colipase, pancreatic
COG1 component of oligomeric golgi complex 1
COG4 component of oligomeric golgi complex 4
COG5 component of oligomeric golgi complex 5
COG6 component of oligomeric golgi complex 6
COG7 component of oligomeric golgi complex 7
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPOX coproporphyrinogen oxidase
CST3 cystatin C
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
CTSF cathepsin F
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DBT dihydrolipoamide branched chain transacylase E2
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DHCR7 7-dehydrocholesterol reductase
DLAT dihydrolipoamide S-acetyltransferase
DMP1 dentin matrix acidic phosphoprotein 1
DNA2 DNA replication helicase/nuclease 2
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DOLK dolichol kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DPYD dihydropyrimidine dehydrogenase
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ENO3 enolase 3 (beta, muscle)
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FASTKD2 FAST kinase domains 2
FECH ferrochelatase
FGA fibrinogen alpha chain
FGF23 fibroblast growth factor 23
FOXP3 forkhead box P3
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
G6PC glucose-6-phosphatase, catalytic subunit
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
GALC galactosylceramidase
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GALNS galactosamine (N-acetyl)-6-sulfatase
GALT galactose-1-phosphate uridylyltransferase
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GCGR glucagon receptor
GCH1 GTP cyclohydrolase 1
GCK glucokinase (hexokinase 4)
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLDC glycine dehydrogenase (decarboxylating)
GLUD1 glutamate dehydrogenase 1
GM2A GM2 ganglioside activator
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNMT glycine N-methyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GRN granulin
GSK3A glycogen synthase kinase 3 alpha
GSK3B glycogen synthase kinase 3 beta
GSN gelsolin
GUSB glucuronidase, beta
GYG1 glycogenin 1
GYS1 glycogen synthase 1 (muscle)
GYS2 glycogen synthase 2 (liver)
HADH hydroxyacyl-CoA dehydrogenase
HAL histidine ammonia-lyase
HAMP hepcidin antimicrobial peptide
HDAC8 histone deacetylase 8
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMBS hydroxymethylbilane synthase
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HNF4A hepatocyte nuclear factor 4, alpha
HPD 4-hydroxyphenylpyruvate dioxygenase
HPRT1 hypoxanthine phosphoribosyltransferase 1
HYAL1 hyaluronoglucosaminidase 1
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IER3IP1 immediate early response 3 interacting protein 1
IFIH1 interferon induced with helicase C domain 1
IFT27 intraflagellar transport 27
IL2RA interleukin 2 receptor, alpha
IL31RA interleukin 31 receptor A
IL6 interleukin 6
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
INSR insulin receptor
IRS1 insulin receptor substrate 1
ITM2B integral membrane protein 2B
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3
IVD isovaleryl-CoA dehydrogenase
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIF7 kinesin family member 7
KLF11 Kruppel-like factor 11
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMP2 lysosomal-associated membrane protein 2
LCAT lecithin-cholesterol acyltransferase
LCT lactase
LDHA lactate dehydrogenase A
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LEP leptin
LEPR leptin receptor
LIPA lipase A, lysosomal acid, cholesterol esterase
LPL lipoprotein lipase
LRPPRC leucine-rich pentatricopeptide repeat containing
LYZ lysozyme
LZTFL1 leucine zipper transcription factor-like 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1
MAT1A methionine adenosyltransferase I, alpha
MC4R melanocortin 4 receptor
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCEE methylmalonyl CoA epimerase
MCF2L2 MCF.2 cell line derived transforming sequence-like 2
MCM6 minichromosome maintenance complex component 6
MCOLN1 mucolipin 1
MEFV Mediterranean fever
MFSD8 major facilitator superfamily domain containing 8
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MPDU1 mannose-P-dolichol utilization defect 1
MPI mannose phosphate isomerase
MRAP2 melanocortin 2 receptor accessory protein 2
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MTTP microsomal triglyceride transfer protein
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
NAGLU N-acetylglucosaminidase, alpha
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA4 NDUFA4, mitochondrial complex associated
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NEUROD1 neuronal differentiation 1
NGLY1 N-glycanase 1
NLRP3 NLR family, pyrin domain containing 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR0B2 nuclear receptor subfamily 0, group B, member 2
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa
OSMR oncostatin M receptor
OTC ornithine carbamoyltransferase
PAH phenylalanine hydroxylase
PAX4 paired box 4
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCSK1 proprotein convertase subtilisin/kexin type 1
PCSK9 proprotein convertase subtilisin/kexin type 9
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHB pyruvate dehydrogenase (lipoamide) beta
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PDX1 pancreatic and duodenal homeobox 1
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PFKM phosphofructokinase, muscle
PGAM2 phosphoglycerate mutase 2 (muscle)
PGM1 phosphoglucomutase 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PHGDH phosphoglycerate dehydrogenase
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKB phosphorylase kinase, beta
PHKG2 phosphorylase kinase, gamma 2 (testis)
PHYH phytanoyl-CoA 2-hydroxylase
PLD3 phospholipase D family, member 3
PMM2 phosphomannomutase 2
PNPLA3 patatin-like phospholipase domain containing 3
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMC proopiomelanocortin
PPARG peroxisome proliferator-activated receptor gamma
PPOX protoporphyrinogen oxidase
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PPP5C protein phosphatase 5, catalytic subunit
PPT1 palmitoyl-protein thioesterase 1
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRNP prion protein
PSAP prosaposin
PSEN1 presenilin 1
PSEN2 presenilin 2
PTF1A pancreas specific transcription factor, 1a
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTRF polymerase I and transcript release factor
PTS 6-pyruvoyltetrahydropterin synthase
PYGL phosphorylase, glycogen, liver
PYGM phosphorylase, glycogen, muscle
QDPR quinoid dihydropteridine reductase
RETN resistin
RFT1 RFT1 homolog (S. cerevisiae)
RFX6 regulatory factor X, 6
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SAA1 serum amyloid A1
SAA2 serum amyloid A2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCO1 SCO1 cytochrome c oxidase assembly protein
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SGSH N-sulfoglucosamine sulfohydrolase
SH2B3 SH2B adaptor protein 3
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC16A11 solute carrier family 16, member 11
SLC16A13 solute carrier family 16, member 13
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC30A8 solute carrier family 30 (zinc transporter), member 8
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC6A14 solute carrier family 6 (amino acid transporter), member 14
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SORL1 sortilin-related receptor, L(DLR class) A repeats containing
SRD5A3 steroid 5 alpha-reductase 3
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
SUGCT succinyl-CoA:glutarate-CoA transferase
SUMF1 sulfatase modifying factor 1
SUMO4 small ubiquitin-like modifier 4
SURF1 surfeit 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TACSTD2 tumor-associated calcium signal transducer 2
TAT tyrosine aminotransferase
TAZ tafazzin
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TFR2 transferrin receptor 2
TGFBI transforming growth factor, beta-induced, 68kDa
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TMEM165 transmembrane protein 165
TMEM67 transmembrane protein 67
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TPP1 tripeptidyl peptidase I
TRIM32 tripartite motif containing 32
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
TTR transthyretin
TUB tubby bipartite transcription factor
TYMP thymidine phosphorylase
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UCP3 uncoupling protein 3 (mitochondrial, proton carrier)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WFS1 Wolfram syndrome 1 (wolframin)
ZFP57 ZFP57 zinc finger protein