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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Genes

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)