abnormal iris pigmentation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal pigmentation of the iris. (Human Phenotype Ontology, HP_0008034)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005102
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Genes

15 gene mutations causing the abnormal iris pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
DCT dopachrome tautomerase
DTNBP1 dystrobrevin binding protein 1
GPNMB glycoprotein (transmembrane) nmb
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
KDM8 lysine (K)-specific demethylase 8
LYST lysosomal trafficking regulator
MITF microphthalmia-associated transcription factor
PITX3 paired-like homeodomain 3
RAB38 RAB38, member RAS oncogene family
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
TMC8 transmembrane channel-like 8
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)