Oculocutaneous Albinism Type 1
Oculocutaneous Albinism Type 1
About the Disease
Albinism, Oculocutaneous, Type Ia, also known as oculocutaneous albinism type 1, is related to albinism, oculocutaneous, type ib and oculocutaneous albinism, and has symptoms including photophobia An important gene associated with Albinism, Oculocutaneous, Type Ia is TYR (Tyrosinase), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Prader-Willi and Angelman syndrome. Affiliated tissues include skin, eye and retina, and related phenotypes are nystagmus and abnormality of visual evoked potentials
Common Targets
TYR | OCA2 | SLC45A2

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