Albinism, Oculocutaneous Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0078918
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Genes

46 genes associated with the disease Albinism, Oculocutaneous in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
ATP7B ATPase, Cu++ transporting, beta polypeptide
AURKB aurora kinase B
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
CDK4 cyclin-dependent kinase 4
CDKN2A cyclin-dependent kinase inhibitor 2A
CRYBG1 crystallin beta-gamma domain containing 1
CSF3 colony stimulating factor 3 (granulocyte)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DTNBP1 dystrobrevin binding protein 1
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
FGL1 fibrinogen-like 1
G6PC3 glucose 6 phosphatase, catalytic, 3
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GOLGA6L2 golgin A6 family-like 2
GPR143 G protein-coupled receptor 143
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS6 Hermansky-Pudlak syndrome 6
IGF1R insulin-like growth factor 1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LYST lysosomal trafficking regulator
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MGMT O-6-methylguanine-DNA methyltransferase
MITF microphthalmia-associated transcription factor
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OCA2 oculocutaneous albinism II
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLXNA2 plexin A2
PMEL premelanosome protein
POT1 protection of telomeres 1
PTEN phosphatase and tensin homolog
RAB38 RAB38, member RAS oncogene family
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC45A2 solute carrier family 45, member 2
TFF1 trefoil factor 1
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
VPS13B vacuolar protein sorting 13 homolog B (yeast)