albinism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). (Human Phenotype Ontology, HP_0001022)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001022
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Genes

11 genes associated with the albinism 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
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
DTNBP1 dystrobrevin binding protein 1
EDNRB endothelin receptor type B
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
MITF microphthalmia-associated transcription factor