decreased eye pigmentation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description the eye has less pigmentation than normal with a possible range of color from dark red, somewhat reduced in pigment, to pink, typical of albinism or ocular albinism (Mammalian Phenotype Ontology, MP_0005172)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005172
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Genes

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

Symbol Name
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
DTNBP1 dystrobrevin binding protein 1
HPS1 Hermansky-Pudlak syndrome 1
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
LYST lysosomal trafficking regulator
MITF microphthalmia-associated transcription factor
NF1 neurofibromin 1
OCA2 oculocutaneous albinism II
PAX6 paired box 6
RAB38 RAB38, member RAS oncogene family
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC45A2 solute carrier family 45, member 2
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
VSX2 visual system homeobox 2
Funding