Albinism Gene Set

Dataset ClinVar Gene-Phenotype Associations 2025
Category disease or phenotype associations
Type phenotype
Description An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). (Human Phenotype Ontology, HP_0001022)
External Link http://www.omim.org/entry/203200
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Genes

3 genes associated with the Albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Symbol Name
OCA2 oculocutaneous albinism II
TYR tyrosinase
TYRP1 tyrosinase-related protein 1