abnormal iris pigmentation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal pigmentation of the iris. (Human Phenotype Ontology, HP_0008034)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008034
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Genes

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

Symbol Name
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACTB actin, beta
ACTG1 actin gamma 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
CDKL5 cyclin-dependent kinase-like 5
CHN1 chimerin 1
DTNBP1 dystrobrevin binding protein 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FGF3 fibroblast growth factor 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GPR143 G protein-coupled receptor 143
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LMX1B LIM homeobox transcription factor 1, beta
LYST lysosomal trafficking regulator
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MECP2 methyl CpG binding protein 2
MITF microphthalmia-associated transcription factor
MLPH melanophilin
MYH11 myosin, heavy chain 11, smooth muscle
MYO5A myosin VA (heavy chain 12, myoxin)
NDN necdin, melanoma antigen (MAGE) family member
OCA2 oculocutaneous albinism II
PAH phenylalanine hydroxylase
PAX3 paired box 3
PDE4D phosphodiesterase 4D, cAMP-specific
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PITX2 paired-like homeodomain 2
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTEN phosphatase and tensin homolog
RAB27A RAB27A, member RAS oncogene family
SKI SKI proto-oncogene
SLC45A2 solute carrier family 45, member 2
SNAI2 snail family zinc finger 2
SNRPN small nuclear ribonucleoprotein polypeptide N
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
TP63 tumor protein p63
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBE3A ubiquitin protein ligase E3A
UROC1 urocanate hydratase 1