encephalopathy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001298
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Genes

81 genes associated with the encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAD9 acyl-CoA dehydrogenase family, member 9
ACY1 aminoacylase 1
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BOLA3 bolA family member 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
CHD2 chromodomain helicase DNA binding protein 2
CLP1 cleavage and polyadenylation factor I subunit 1
COG8 component of oligomeric golgi complex 8
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CPT1A carnitine palmitoyltransferase 1A (liver)
D2HGDH D-2-hydroxyglutarate dehydrogenase
DGUOK deoxyguanosine kinase
DLD dihydrolipoamide dehydrogenase
DOCK7 dedicator of cytokinesis 7
FADD Fas (TNFRSF6)-associated via death domain
FBXL4 F-box and leucine-rich repeat protein 4
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GCDH glutaryl-CoA dehydrogenase
GLUL glutamate-ammonia ligase
GLYCTK glycerate kinase
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
HADH hydroxyacyl-CoA dehydrogenase
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HTRA1 HtrA serine peptidase 1
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
LIAS lipoic acid synthetase
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MPC1 mitochondrial pyruvate carrier 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
NECAP1 NECAP endocytosis associated 1
NRXN1 neurexin 1
NUBPL nucleotide binding protein-like
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PNPO pyridoxamine 5'-phosphate oxidase
RANBP2 RAN binding protein 2
RNASEH2B ribonuclease H2, subunit B
ROGDI rogdi homolog (Drosophila)
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SH2D1A SH2 domain containing 1A
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STXBP1 syntaxin binding protein 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SYNGAP1 synaptic Ras GTPase activating protein 1
TBC1D24 TBC1 domain family, member 24
TMEM70 transmembrane protein 70
TREX1 three prime repair exonuclease 1
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSFM Ts translation elongation factor, mitochondrial
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
VTI1A vesicle transport through interaction with t-SNAREs 1A