irritability Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000737
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Genes

50 genes associated with the irritability 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
ACOX1 acyl-CoA oxidase 1, palmitoyl
ALPL alkaline phosphatase, liver/bone/kidney
AMT aminomethyltransferase
AQP2 aquaporin 2 (collecting duct)
ARG1 arginase 1
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
AVPR2 arginine vasopressin receptor 2
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
COG4 component of oligomeric golgi complex 4
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DNMT1 DNA (cytosine-5-)-methyltransferase 1
FBP1 fructose-1,6-bisphosphatase 1
GCH1 GTP cyclohydrolase 1
GCSH glycine cleavage system protein H (aminomethyl carrier)
GLDC glycine dehydrogenase (decarboxylating)
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
IFIH1 interferon induced with helicase C domain 1
JPH3 junctophilin 3
MAPT microtubule-associated protein tau
NSDHL NAD(P) dependent steroid dehydrogenase-like
OTC ornithine carbamoyltransferase
PAH phenylalanine hydroxylase
PPT1 palmitoyl-protein thioesterase 1
PRF1 perforin 1 (pore forming protein)
PRNP prion protein
PSEN1 presenilin 1
PTS 6-pyruvoyltetrahydropterin synthase
QDPR quinoid dihydropteridine reductase
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TCN2 transcobalamin II
TK2 thymidine kinase 2, mitochondrial
TMEM237 transmembrane protein 237
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)