hyperpigmentation of the skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A darkening of the skin related to an increase in melanin production and deposition. (Human Phenotype Ontology, HP_0000953)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000953
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Genes

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

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACP5 acid phosphatase 5, tartrate resistant
ADAR adenosine deaminase, RNA-specific
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ANTXR2 anthrax toxin receptor 2
APC adenomatous polyposis coli
APOE apolipoprotein E
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BANF1 barrier to autointegration factor 1
BLM Bloom syndrome, RecQ helicase-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CARD14 caspase recruitment domain family, member 14
CASR calcium-sensing receptor
COL3A1 collagen, type III, alpha 1
COX7B cytochrome c oxidase subunit VIIb
CPOX coproporphyrinogen oxidase
CTC1 CTS telomere maintenance complex component 1
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
DKC1 dyskeratosis congenita 1, dyskerin
DNASE1L3 deoxyribonuclease I-like 3
ELOVL4 ELOVL fatty acid elongase 4
ERCC4 excision repair cross-complementation group 4
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
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GBA glucosidase, beta, acid
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GMPPA GDP-mannose pyrophosphorylase A
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
HAMP hepcidin antimicrobial peptide
HCCS holocytochrome c synthase
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HGD homogentisate 1,2-dioxygenase
HLA-B major histocompatibility complex, class I, B
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HPS1 Hermansky-Pudlak syndrome 1
HRAS Harvey rat sarcoma viral oncogene homolog
IGHV4-34 immunoglobulin heavy variable 4-34
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INSR insulin receptor
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LBR lamin B receptor
LYST lysosomal trafficking regulator
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MITF microphthalmia-associated transcription factor
MLH1 mutL homolog 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MRAP melanocortin 2 receptor accessory protein
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MVK mevalonate kinase
MYO5A myosin VA (heavy chain 12, myoxin)
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NHP2 NHP2 ribonucleoprotein
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH3 notch 3
NR0B1 nuclear receptor subfamily 0, group B, member 1
OCA2 oculocutaneous albinism II
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PAX6 paired box 6
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PORCN porcupine homolog (Drosophila)
PPOX protoporphyrinogen oxidase
PRDM16 PR domain containing 16
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM28 RNA binding motif protein 28
RTEL1 regulator of telomere elongation helicase 1
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
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
SEC23A Sec23 homolog A (S. cerevisiae)
SKI SKI proto-oncogene
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNAI2 snail family zinc finger 2
SPINK5 serine peptidase inhibitor, Kazal type 5
STK11 serine/threonine kinase 11
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFR2 transferrin receptor 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TP63 tumor protein p63
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TYR tyrosinase
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
WRAP53 WD repeat containing, antisense to TP53
ZMPSTE24 zinc metallopeptidase STE24