Tyrosinase-positive oculocutaneous albinism Gene Set

Dataset ClinVar Gene-Phenotype Associations 2025
Category disease or phenotype associations
Type phenotype
External Link NULL
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Genes

4 genes associated with the Tyrosinase-positive oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Symbol Name
ATP5ME ATP synthase membrane subunit e
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
OCA2 oculocutaneous albinism II
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta