Encephalopathy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0751267
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Genes

53 genes associated with the disease Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADD3 adducin 3 (gamma)
ADRA1B adrenoceptor alpha 1B
ALOX5AP arachidonate 5-lipoxygenase-activating protein
BCHE butyrylcholinesterase
BCL2L1 BCL2-like 1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCK cholecystokinin
CD3D CD3d molecule, delta (CD3-TCR complex)
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DNM1L dynamin 1-like
DYM dymeclin
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial
EGLN1 egl-9 family hypoxia-inducible factor 1
FOS FBJ murine osteosarcoma viral oncogene homolog
GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2
LAT linker for activation of T cells
LIPT2 lipoyl(octanoyl) transferase 2 (putative)
MECP2 methyl CpG binding protein 2
MFF mitochondrial fission factor
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NAXE NAD(P)HX epimerase
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)
NFE2L2 nuclear factor, erythroid 2-like 2
NQO1 NAD(P)H dehydrogenase, quinone 1
P2RX1 purinergic receptor P2X, ligand gated ion channel, 1
PLAT plasminogen activator, tissue
PON1 paraoxonase 1
PRKCD protein kinase C, delta
PTGES3 prostaglandin E synthase 3 (cytosolic)
RNASE6 ribonuclease, RNase A family, k6
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SRSF5 serine/arginine-rich splicing factor 5
ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1
SURF1 surfeit 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TBCD tubulin folding cofactor D
TBCE tubulin folding cofactor E
TGM1 transglutaminase 1
TICAM1 toll-like receptor adaptor molecule 1
TIMP3 TIMP metallopeptidase inhibitor 3
TRAF3 TNF receptor-associated factor 3
TRAPPC12 trafficking protein particle complex 12
UNC93B1 unc-93 homolog B1 (C. elegans)
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial