generalized hypopigmentation Gene Set
Genes
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
|
