generalized hypopigmentation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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23 genes associated with the generalized 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
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
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LEMD3 LEM domain containing 3
LYST lysosomal trafficking regulator
MITF microphthalmia-associated transcription factor
MLPH melanophilin
MYO5A myosin VA (heavy chain 12, myoxin)
NDN necdin, melanoma antigen (MAGE) family member
OCRL oculocerebrorenal syndrome of Lowe
PAH phenylalanine hydroxylase
SLC45A2 solute carrier family 45, member 2
SNRPN small nuclear ribonucleoprotein polypeptide N
TP63 tumor protein p63
TYR tyrosinase