abnormality of blood glucose concentration Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the concentration of glucose in the blood. (Human Phenotype Ontology, HP_0011015)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011015
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Genes

130 genes associated with the abnormality of blood glucose concentration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
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
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALDOB aldolase B, fructose-bisphosphate
ATP7A ATPase, Cu++ transporting, alpha polypeptide
AUH AU RNA binding protein/enoyl-CoA hydratase
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
CA5A carbonic anhydrase VA, mitochondrial
CAMKMT calmodulin-lysine N-methyltransferase
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CISD2 CDGSH iron sulfur domain 2
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CRH corticotropin releasing hormone
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DBT dihydrolipoamide branched chain transacylase E2
DGUOK deoxyguanosine kinase
DLD dihydrolipoamide dehydrogenase
DOLK dolichol kinase
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FBP1 fructose-1,6-bisphosphatase 1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
G6PC glucose-6-phosphatase, catalytic subunit
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
GK glycerol kinase
GLI3 GLI family zinc finger 3
GLUD1 glutamate dehydrogenase 1
GPC3 glypican 3
GPC4 glypican 4
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
HESX1 HESX homeobox 1
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
HNF1A HNF1 homeobox A
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
INS insulin
INSR insulin receptor
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KDM6A lysine (K)-specific demethylase 6A
LHX4 LIM homeobox 4
LMNA lamin A/C
LRPPRC leucine-rich pentatricopeptide repeat containing
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MEN1 multiple endocrine neoplasia I
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
MTO1 mitochondrial tRNA translation optimization 1
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
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NNT nicotinamide nucleotide transhydrogenase
NOTCH3 notch 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NSD1 nuclear receptor binding SET domain protein 1
NUBPL nucleotide binding protein-like
OTC ornithine carbamoyltransferase
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)
PCSK1 proprotein convertase subtilisin/kexin type 1
PGM1 phosphoglucomutase 1
PHKA2 phosphorylase kinase, alpha 2 (liver)
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PNPO pyridoxamine 5'-phosphate oxidase
POMC proopiomelanocortin
PPARG peroxisome proliferator-activated receptor gamma
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PREPL prolyl endopeptidase-like
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PROP1 PROP paired-like homeobox 1
PTEN phosphatase and tensin homolog
PYGL phosphorylase, glycogen, liver
RFX6 regulatory factor X, 6
SERAC1 serine active site containing 1
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SUCLG1 succinate-CoA ligase, alpha subunit
UQCRB ubiquinol-cytochrome c reductase binding protein
UQCRC2 ubiquinol-cytochrome c reductase core protein II
WFS1 Wolfram syndrome 1 (wolframin)
ZFP57 ZFP57 zinc finger protein
ZMPSTE24 zinc metallopeptidase STE24