Disease-gene associations mined from literature

Human genes for ocular albinism

Ocular albinism [DOID:0050633]

An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.

Synonyms:  ocular albinism,  DOID:0050633,  ocular albinisms

Linkouts:  OMIM