Disease

Albinism

About the Disease
Albinism is related to albinism, oculocutaneous, type ia and albinism, ocular, with late-onset sensorineural deafness. An important gene associated with Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Prader-Willi and Angelman syndrome. The drugs Pirfenidone and Nitisinone have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone marrow, and related phenotypes are pigmentation and homeostasis/metabolism

Common Targets
GNAI3 | LRMDA | TYR | HPS1 | OCA2 | SLC45A2 | TYRP1 | RAB27A | GPR143 | KIT

疾病靶点研报
Albinism

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