albinism Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). (Human Phenotype Ontology, HP_0001022)
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Genes

11 genes co-occuring with the biological term albinism in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
AP3B1 adaptor-related protein complex 3, beta 1 subunit
FRMD7 FERM domain containing 7
G6PC3 glucose 6 phosphatase, catalytic, 3
GPR143 G protein-coupled receptor 143
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
OCA2 oculocutaneous albinism II
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC38A8 solute carrier family 38, member 8
SLC45A2 solute carrier family 45, member 2
TYR tyrosinase
TYRP1 tyrosinase-related protein 1