Oculocutaneous Albinism Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. (Human Disease Ontology, DOID_0050632)
External Link https://www.disgenet.org/browser/0/1/0/C1847836
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ADM adrenomedullin
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
BMI1 BMI1 proto-oncogene, polycomb ring finger
CALR calreticulin
CANX calnexin
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD24 CD24 molecule
CDKN2A cyclin-dependent kinase inhibitor 2A
COMMD3-BMI1 COMMD3-BMI1 readthrough
CRP C-reactive protein, pentraxin-related
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
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
IL18 interleukin 18
LCN2 lipocalin 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MUC1 mucin 1, cell surface associated
MYEF2 myelin expression factor 2
NAGLU N-acetylglucosaminidase, alpha
NBAS neuroblastoma amplified sequence
OCA2 oculocutaneous albinism II
PRDX3 peroxiredoxin 3
PROM1 prominin 1
REN renin
SCN7A sodium channel, voltage gated, type VII alpha subunit
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC45A2 solute carrier family 45, member 2
TBX5 T-box 5
TYR tyrosinase
TYRP1 tyrosinase-related protein 1