abnormal choroid pigmentation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera (Mammalian Phenotype Ontology, MP_0005100)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005100
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13 gene mutations causing the abnormal choroid pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
DTNBP1 dystrobrevin binding protein 1
ECE1 endothelin converting enzyme 1
EDNRB endothelin receptor type B
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
KXD1 KxDL motif containing 1
LYST lysosomal trafficking regulator
MITF microphthalmia-associated transcription factor
PMEL premelanosome protein
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)