abnormality of carbohydrate metabolism/homeostasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the metabolism/homeostasis of a carbohydrate. (Human Phenotype Ontology, HP_0011013)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011013
Similar Terms
Downloads & Tools

Genes

400 genes associated with the abnormality of carbohydrate metabolism/homeostasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACAD9 acyl-CoA dehydrogenase family, member 9
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACAT2 acetyl-CoA acetyltransferase 2
AGA aspartylglucosaminidase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALAS2 5'-aminolevulinate synthase 2
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALMS1 Alstrom syndrome protein 1
APOE apolipoprotein E
AR androgen receptor
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARMC5 armadillo repeat containing 5
ARSB arylsulfatase B
ATM ATM serine/threonine kinase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
AUH AU RNA binding protein/enoyl-CoA hydratase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
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
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEST1 bestrophin 1
BLK BLK proto-oncogene, Src family tyrosine kinase
BLM Bloom syndrome, RecQ helicase-like
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
C2ORF71 chromosome 2 open reading frame 71
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CA5A carbonic anhydrase VA, mitochondrial
CAMKMT calmodulin-lysine N-methyltransferase
CAV1 caveolin 1, caveolae protein, 22kDa
CDHR1 cadherin-related family member 1
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEL carboxyl ester lipase
CEP290 centrosomal protein 290kDa
CERKL ceramide kinase-like
CISD2 CDGSH iron sulfur domain 2
CLCN5 chloride channel, voltage-sensitive 5
CLIP2 CAP-GLY domain containing linker protein 2
CLRN1 clarin 1
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
COA5 cytochrome c oxidase assembly factor 5
COG1 component of oligomeric golgi complex 1
COG5 component of oligomeric golgi complex 5
COG6 component of oligomeric golgi complex 6
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRH corticotropin releasing hormone
CRX cone-rod homeobox
CTC1 CTS telomere maintenance complex component 1
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DBT dihydrolipoamide branched chain transacylase E2
DCAF17 DDB1 and CUL4 associated factor 17
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DGUOK deoxyguanosine kinase
DHDDS dehydrodolichyl diphosphate synthase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DLD dihydrolipoamide dehydrogenase
DOLK dolichol kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
EYS eyes shut homolog (Drosophila)
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM161A family with sequence similarity 161, member A
FAN1 FANCD2/FANCI-associated nuclease 1
FASTKD2 FAST kinase domains 2
FBN1 fibrillin 1
FBP1 fructose-1,6-bisphosphatase 1
FGFR1 fibroblast growth factor receptor 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC2 forkhead box C2
FOXP3 forkhead box P3
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FSCN2 fascin actin-bundling protein 2, retinal
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
FXN frataxin
G6PC glucose-6-phosphatase, catalytic subunit
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GALNS galactosamine (N-acetyl)-6-sulfatase
GALT galactose-1-phosphate uridylyltransferase
GATA6 GATA binding protein 6
GCDH glutaryl-CoA dehydrogenase
GCK glucokinase (hexokinase 4)
GH1 growth hormone 1
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GK glycerol kinase
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GLIS3 GLIS family zinc finger 3
GLUD1 glutamate dehydrogenase 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GPC3 glypican 3
GPC4 glypican 4
GPI glucose-6-phosphate isomerase
GSS glutathione synthetase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GUSB glucuronidase, beta
GYS2 glycogen synthase 2 (liver)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HADH hydroxyacyl-CoA dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HAMP hepcidin antimicrobial peptide
HBB hemoglobin, beta
HESX1 HESX homeobox 1
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGA1 high mobility group AT-hook 1
HMGA2 high mobility group AT-hook 2
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HNF4A hepatocyte nuclear factor 4, alpha
HRAS Harvey rat sarcoma viral oncogene homolog
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HYAL1 hyaluronoglucosaminidase 1
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IER3IP1 immediate early response 3 interacting protein 1
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INS insulin
INSR insulin receptor
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine (K)-specific demethylase 6A
KIZ kizuna centrosomal protein
KLF11 Kruppel-like factor 11
KLHL7 kelch-like family member 7
LDHA lactate dehydrogenase A
LEMD3 LEM domain containing 3
LHX1 LIM homeobox 1
LHX4 LIM homeobox 4
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPE lipase, hormone-sensitive
LMNA lamin A/C
LMNB2 lamin B2
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRPPRC leucine-rich pentatricopeptide repeat containing
LZTFL1 leucine zipper transcription factor-like 1
MAK male germ cell-associated kinase
MANBA mannosidase, beta A, lysosomal
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCOLN1 mucolipin 1
MEN1 multiple endocrine neoplasia I
MERTK MER proto-oncogene, tyrosine kinase
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLYCD malonyl-CoA decarboxylase
MPC1 mitochondrial pyruvate carrier 1
MPI mannose phosphate isomerase
MPV17 MpV17 mitochondrial inner membrane protein
MRAP melanocortin 2 receptor accessory protein
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTO1 mitochondrial tRNA translation optimization 1
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
ND1
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
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)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEK2 NIMA-related kinase 2
NEU1 sialidase 1 (lysosomal sialidase)
NEUROD1 neuronal differentiation 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHP2 NHP2 ribonucleoprotein
NKX2-5 NK2 homeobox 5
NNT nicotinamide nucleotide transhydrogenase
NOP10 NOP10 ribonucleoprotein
NOTCH3 notch 3
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRL neural retina leucine zipper
NSD1 nuclear receptor binding SET domain protein 1
NUBPL nucleotide binding protein-like
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OTC ornithine carbamoyltransferase
OTX2 orthodenticle homeobox 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX4 paired box 4
PC pyruvate carboxylase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial)
PCNT pericentrin
PCSK1 proprotein convertase subtilisin/kexin type 1
PDE11A phosphodiesterase 11A
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDE8B phosphodiesterase 8B
PDHX pyruvate dehydrogenase complex, component X
PDX1 pancreatic and duodenal homeobox 1
PET100 PET100 homolog (S. cerevisiae)
PGM1 phosphoglucomutase 1
PHKA2 phosphorylase kinase, alpha 2 (liver)
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLCD1 phospholipase C, delta 1
PLIN1 perilipin 1
PMM2 phosphomannomutase 2
PNPLA2 patatin-like phospholipase domain containing 2
PNPO pyridoxamine 5'-phosphate oxidase
POC1A POC1 centriolar protein A
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMC proopiomelanocortin
PPARG peroxisome proliferator-activated receptor gamma
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRCD progressive rod-cone degeneration
PREPL prolyl endopeptidase-like
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PROP1 PROP paired-like homeobox 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRSS1 protease, serine, 1 (trypsin 1)
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTRF polymerase I and transcript release factor
PYGL phosphorylase, glycogen, liver
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RFC2 replication factor C (activator 1) 2, 40kDa
RFT1 RFT1 homolog (S. cerevisiae)
RFX6 regulatory factor X, 6
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RTEL1 regulator of telomere elongation helicase 1
SAG S-antigen; retina and pineal gland (arrestin)
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBDS Shwachman-Bodian-Diamond syndrome
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SERAC1 serine active site containing 1
SGSH N-sulfoglucosamine sulfohydrolase
SHH sonic hedgehog
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC16A12 solute carrier family 16, member 12
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC7A14 solute carrier family 7, member 14
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPATA7 spermatogenesis associated 7
SPINK1 serine peptidase inhibitor, Kazal type 1
SRD5A3 steroid 5 alpha-reductase 3
SUCLG1 succinate-CoA ligase, alpha subunit
SUMF1 sulfatase modifying factor 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TBL2 transducin (beta)-like 2
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TRIM32 tripartite motif containing 32
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRNE
TTC37 tetratricopeptide repeat domain 37
TTC8 tetratricopeptide repeat domain 8
TTPA tocopherol (alpha) transfer protein
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UQCRB ubiquinol-cytochrome c reductase binding protein
UQCRC2 ubiquinol-cytochrome c reductase core protein II
USB1 U6 snRNA biogenesis 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VANGL1 VANGL planar cell polarity protein 1
WDPCP WD repeat containing planar cell polarity effector
WFS1 Wolfram syndrome 1 (wolframin)
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
ZFP57 ZFP57 zinc finger protein
ZMPSTE24 zinc metallopeptidase STE24
ZNF513 zinc finger protein 513