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ENAlbinism, Oculocutaneous, Type Iv (OCA4)
Alias:
Oca4
Oculocutaneous Albinism Type 4
Oculocutaneous Albinism, Type Iv
Oculocutaneous Albinism Type Iv
Albinism, Oculocutaneous, 4
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Albinism, Oculocutaneous, Type Iv, also known as oca4, is related to albinism, oculocutaneous, type ia and microphthalmia. An important gene associated with Albinism, Oculocutaneous, Type Iv is SLC45A2 (Solute Carrier Family 45 Member 2), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Prader-Willi and Angelman syndrome. Affiliated tissues include skin and eye, and related phenotypes are nystagmus and abnormality of retinal pigmentation
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