hypopigmentation of the skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A reduction of skin color related to a decrease in melanin production and deposition. (Human Phenotype Ontology, HP_0001010)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001010
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Genes

129 genes associated with the hypopigmentation of the skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACP5 acid phosphatase 5, tartrate resistant
ADAR adenosine deaminase, RNA-specific
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAD aminolevulinate dehydratase
ANTXR1 anthrax toxin receptor 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BLM Bloom syndrome, RecQ helicase-like
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTK Bruton agammaglobulinemia tyrosine kinase
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CCR6 chemokine (C-C motif) receptor 6
CDKL5 cyclin-dependent kinase-like 5
COL7A1 collagen, type VII, alpha 1
COX1
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CTC1 CTS telomere maintenance complex component 1
CTGF connective tissue growth factor
CTNS cystinosin, lysosomal cystine transporter
CTSC cathepsin C
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)
ERCC4 excision repair cross-complementation group 4
ERF Ets2 repressor factor
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FERMT1 fermitin family member 1
FGFR2 fibroblast growth factor receptor 2
HCCS holocytochrome c synthase
HFE hemochromatosis
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HRAS Harvey rat sarcoma viral oncogene homolog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IRF5 interferon regulatory factor 5
KIAA0319L KIAA0319-like
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LEMD3 LEM domain containing 3
LYST lysosomal trafficking regulator
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MECP2 methyl CpG binding protein 2
MEN1 multiple endocrine neoplasia I
MITF microphthalmia-associated transcription factor
MLPH melanophilin
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MYO5A myosin VA (heavy chain 12, myoxin)
ND1
NDN necdin, melanoma antigen (MAGE) family member
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PCNT pericentrin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB27A RAB27A, member RAS oncogene family
RAD51C RAD51 paralog C
RTEL1 regulator of telomere elongation helicase 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC45A2 solute carrier family 45, member 2
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLX4 SLX4 structure-specific endonuclease subunit
SNAI2 snail family zinc finger 2
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
TCF4 transcription factor 4
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
TP63 tumor protein p63
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TWIST2 twist family bHLH transcription factor 2
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
WRAP53 WD repeat containing, antisense to TP53
XPC xeroderma pigmentosum, complementation group C