abnormality of skin pigmentation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the pigmentation of the skin. (Human Phenotype Ontology, HP_0001000)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001000
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
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
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APC adenomatous polyposis coli
APOE apolipoprotein E
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BANF1 barrier to autointegration factor 1
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
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTK Bruton agammaglobulinemia tyrosine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CARD14 caspase recruitment domain family, member 14
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CCR6 chemokine (C-C motif) receptor 6
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDK4 cyclin-dependent kinase 4
CDKL5 cyclin-dependent kinase-like 5
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CEP57 centrosomal protein 57kDa
CHM choroideremia (Rab escort protein 1)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
COL3A1 collagen, type III, alpha 1
COL7A1 collagen, type VII, alpha 1
COX1
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CPOX coproporphyrinogen oxidase
CRX cone-rod homeobox
CTC1 CTS telomere maintenance complex component 1
CTGF connective tissue growth factor
CTNS cystinosin, lysosomal cystine transporter
CTSC cathepsin C
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
DST dystonin
DTNBP1 dystrobrevin binding protein 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EDN3 endothelin 3
EDNRB endothelin receptor type B
ELOVL4 ELOVL fatty acid elongase 4
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
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
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
FLNA filamin A, alpha
FOS FBJ murine osteosarcoma viral oncogene homolog
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
GPR143 G protein-coupled receptor 143
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
HMGA2 high mobility group AT-hook 2
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
IDUA iduronidase, alpha-L-
IGHV4-34 immunoglobulin heavy variable 4-34
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INSR insulin receptor
IRF5 interferon regulatory factor 5
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KIAA0319L KIAA0319-like
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
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LBR lamin B receptor
LEMD3 LEM domain containing 3
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LMNA lamin A/C
LYST lysosomal trafficking regulator
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MECP2 methyl CpG binding protein 2
MEN1 multiple endocrine neoplasia I
MFRP membrane frizzled-related protein
MITF microphthalmia-associated transcription factor
MLH1 mutL homolog 1
MLPH melanophilin
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MPL MPL proto-oncogene, thrombopoietin receptor
MRAP melanocortin 2 receptor accessory protein
MSH2 mutS homolog 2
MSH6 mutS homolog 6
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
MVK mevalonate kinase
MYO5A myosin VA (heavy chain 12, myoxin)
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
ND1
NDN necdin, melanoma antigen (MAGE) family member
NF1 neurofibromin 1
NHP2 NHP2 ribonucleoprotein
NLRP1 NLR family, pyrin domain containing 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH3 notch 3
NR0B1 nuclear receptor subfamily 0, group B, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PAX3 paired box 3
PAX6 paired box 6
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
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
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLH polymerase (DNA directed), eta
PORCN porcupine homolog (Drosophila)
POT1 protection of telomeres 1
PPOX protoporphyrinogen oxidase
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB27A RAB27A, member RAS oncogene family
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM28 RNA binding motif protein 28
RECQL4 RecQ protein-like 4
RIT1 Ras-like without CAAX 1
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)
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SKI SKI proto-oncogene
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC45A2 solute carrier family 45, member 2
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
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
SNRPN small nuclear ribonucleoprotein polypeptide N
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SPINK5 serine peptidase inhibitor, Kazal type 5
SPRED1 sprouty-related, EVH1 domain containing 1
SRD5A3 steroid 5 alpha-reductase 3
STK11 serine/threonine kinase 11
TCF4 transcription factor 4
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFR2 transferrin receptor 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TP63 tumor protein p63
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TUBGCP6 tubulin, gamma complex associated protein 6
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
UVSSA UV-stimulated scaffold protein A
WRAP53 WD repeat containing, antisense to TP53
XPC xeroderma pigmentosum, complementation group C
ZMPSTE24 zinc metallopeptidase STE24