hypopigmentation of hair Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005599
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Genes

60 genes associated with the hypopigmentation of hair 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
ATM ATM serine/threonine kinase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CDKL5 cyclin-dependent kinase-like 5
CTC1 CTS telomere maintenance complex component 1
CTNS cystinosin, lysosomal cystine transporter
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DTNBP1 dystrobrevin binding protein 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRT71 keratin 71, type II
KRT74 keratin 74, type II
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LIPH lipase, member H
LPAR6 lysophosphatidic acid receptor 6
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
MYO5A myosin VA (heavy chain 12, myoxin)
NDN necdin, melanoma antigen (MAGE) family member
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
OCA2 oculocutaneous albinism II
PAH phenylalanine hydroxylase
PAX3 paired box 3
PDE4D phosphodiesterase 4D, cAMP-specific
PEPD peptidase D
RAB27A RAB27A, member RAS oncogene family
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RTEL1 regulator of telomere elongation helicase 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC45A2 solute carrier family 45, member 2
SNAI2 snail family zinc finger 2
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMCO1 transmembrane and coiled-coil domains 1
TP63 tumor protein p63
TYR tyrosinase
UBE3A ubiquitin protein ligase E3A
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UROC1 urocanate hydratase 1
USB1 U6 snRNA biogenesis 1
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like