Oculocutaneous albinism Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
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)
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Genes

8 genes involed in the disease Oculocutaneous albinism from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
TYR tyrosinase 5.0
DCT dopachrome tautomerase 5.0
OCA2 oculocutaneous albinism II 5.0
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 5.0
TYRP1 tyrosinase-related protein 1 5.0
SLC45A2 solute carrier family 45, member 2 5.0
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 5.0
LRMDA leucine rich melanocyte differentiation associated 5.0