Oculocutaneous albinism Gene Set

Dataset ClinVar Gene-Phenotype Associations 2025
Category disease or phenotype associations
Type phenotype
Description An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. (Human Disease Ontology, DOID_0050632)
External Link https://www.ncbi.nlm.nih.gov/medgen/36250
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Genes

9 genes associated with the Oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Symbol Name
AMACR alpha-methylacyl-CoA racemase
LRMDA leucine rich melanocyte differentiation associated
MITF microphthalmia-associated transcription factor
OCA2 oculocutaneous albinism II
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC45A2 solute carrier family 45, member 2
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
WDR45 WD repeat domain 45