neoplasm of the skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008069
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Genes

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

Symbol Name
ACVRL1 activin A receptor type II-like 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAD aminolevulinate dehydratase
ALX3 ALX homeobox 3
APC adenomatous polyposis coli
ASXL1 additional sex combs like transcriptional regulator 1
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BRAF B-Raf proto-oncogene, serine/threonine kinase
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CDKN2A cyclin-dependent kinase inhibitor 2A
CHEK2 checkpoint kinase 2
COL1A1 collagen, type I, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL7A1 collagen, type VII, alpha 1
CREBBP CREB binding protein
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSA cathepsin A
CTSC cathepsin C
CXCR4 chemokine (C-X-C motif) receptor 4
CYLD cylindromatosis (turban tumor syndrome)
DDB2 damage-specific DNA binding protein 2, 48kDa
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DOCK8 dedicator of cytokinesis 8
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
ECM1 extracellular matrix protein 1
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
ENG endoglin
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FCN3 ficolin (collagen/fibrinogen domain containing) 3
FERMT1 fermitin family member 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FLT4 fms-related tyrosine kinase 4
GDF2 growth differentiation factor 2
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
GLI3 GLI family zinc finger 3
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC6 glypican 6
GPR143 G protein-coupled receptor 143
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
ING1 inhibitor of growth family, member 1
KDR kinase insert domain receptor
KIF1B kinesin family member 1B
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
KRT1 keratin 1, type II
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT5 keratin 5, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT9 keratin 9, type I
LRRC8A leucine rich repeat containing 8 family, member A
MAMLD1 mastermind-like domain containing 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEN1 multiple endocrine neoplasia I
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MITF microphthalmia-associated transcription factor
MLH1 mutL homolog 1
MMP1 matrix metallopeptidase 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MTM1 myotubularin 1
MUTYH mutY homolog
MVK mevalonate kinase
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NOTCH1 notch 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLCD1 phospholipase C, delta 1
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLH polymerase (DNA directed), eta
PORCN porcupine homolog (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RMRP RNA component of mitochondrial RNA processing endoribonuclease
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)
SETBP1 SET binding protein 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC45A2 solute carrier family 45, member 2
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SNAI2 snail family zinc finger 2
SPRED1 sprouty-related, EVH1 domain containing 1
SRD5A3 steroid 5 alpha-reductase 3
STK4 serine/threonine kinase 4
SUFU suppressor of fused homolog (Drosophila)
TCF3 transcription factor 3
TERC telomerase RNA component
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b
TP53 tumor protein p53
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TYR tyrosinase
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WNT10A wingless-type MMTV integration site family, member 10A
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
XPC xeroderma pigmentosum, complementation group C