absent eye pigmentation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of melanin (pigment) in the eye either due to absent melanocytes or failure of melanin synthesis (Mammalian Phenotype Ontology, MP_0008480)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008480
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Genes

8 gene mutations causing the absent eye pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
FUZ fuzzy planar cell polarity protein
HPS3 Hermansky-Pudlak syndrome 3
MITF microphthalmia-associated transcription factor
OCA2 oculocutaneous albinism II
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC45A2 solute carrier family 45, member 2
TYR tyrosinase