generalized hyperpigmentation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007440
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Genes

28 genes associated with the generalized hyperpigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
BRAF B-Raf proto-oncogene, serine/threonine kinase
CPOX coproporphyrinogen oxidase
DKC1 dyskeratosis congenita 1, dyskerin
GJB6 gap junction protein, beta 6, 30kDa
GMPPA GDP-mannose pyrophosphorylase A
GNAS GNAS complex locus
HAMP hepcidin antimicrobial peptide
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HRAS Harvey rat sarcoma viral oncogene homolog
INSR insulin receptor
KRAS Kirsten rat sarcoma viral oncogene homolog
LYST lysosomal trafficking regulator
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MYO5A myosin VA (heavy chain 12, myoxin)
PAX6 paired box 6
PPOX protoporphyrinogen oxidase
PTEN phosphatase and tensin homolog
RTEL1 regulator of telomere elongation helicase 1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TP63 tumor protein p63