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ENSkin/hair/eye Pigmentation, Variation in, 1 (SHEP1)
Alias:
Skin/hair/eye Pigmentation 1, Blue/nonblue Eyes
Pigmentation, Hair, Blond/brown - Eyes, Blue/non-Blue, Type 1
Skin/hair/eye Pigmentation 1, Blond/brown Hair
Skin/hair/eye Pigmentation 1, Blue/brown Eyes
Eye Color, Blue/nonblue
Eye Color, Brown/blue
Brown Eye Color 2
Hair Color 3
Eye Color 3
Shep1
Eycl3
Bey2
Hcl3
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Skin/hair/eye Pigmentation, Variation in, 1, also known as skin/hair/eye pigmentation 1, blue/nonblue eyes, is related to albinism, oculocutaneous, type vi and acute contagious conjunctivitis. An important gene associated with Skin/hair/eye Pigmentation, Variation in, 1 is OCA2 (OCA2 Melanosomal Transmembrane Protein), and among its related pathways/superpathways is Prader-Willi and Angelman syndrome. Affiliated tissues include eye and skin, and related phenotype is adipose tissue.
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MALACARDS
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MGI
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