iris hypopigmentation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal reduction in the amount of pigmentation of the iris. (Human Phenotype Ontology, HP_0007730)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007730
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Genes

26 genes associated with the iris hypopigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AP3B1 adaptor-related protein complex 3, beta 1 subunit
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
DTNBP1 dystrobrevin binding protein 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GPR143 G protein-coupled receptor 143
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
LYST lysosomal trafficking regulator
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MLPH melanophilin
MYO5A myosin VA (heavy chain 12, myoxin)
NDN necdin, melanoma antigen (MAGE) family member
OCA2 oculocutaneous albinism II
PITX2 paired-like homeodomain 2
PRDM16 PR domain containing 16
RAB27A RAB27A, member RAS oncogene family
SKI SKI proto-oncogene
SLC45A2 solute carrier family 45, member 2
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
TYR tyrosinase
TYRP1 tyrosinase-related protein 1