neoplasm by histology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Neoplasm categorized according to type of histological abnormality. (Human Phenotype Ontology, HP_0011792)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011792
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Genes

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

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANTXR2 anthrax toxin receptor 2
APC adenomatous polyposis coli
ASCL1 achaete-scute family bHLH transcription factor 1
ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1
AXIN2 axin 2
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BAX BCL2-associated X protein
BDNF brain-derived neurotrophic factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CCBE1 collagen and calcium binding EGF domains 1
CDC73 cell division cycle 73
CDK4 cyclin-dependent kinase 4
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
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
CHEK2 checkpoint kinase 2
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
CREB1 cAMP responsive element binding protein 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSC cathepsin C
DCC DCC netrin 1 receptor
DDB2 damage-specific DNA binding protein 2, 48kDa
DDIT3 DNA-damage-inducible transcript 3
DHCR24 24-dehydrocholesterol reductase
DICER1 dicer 1, ribonuclease type III
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
EDN3 endothelin 3
EP300 E1A binding protein p300
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC3 excision repair cross-complementation group 3
EWSR1 EWS RNA-binding protein 1
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FAT4 FAT atypical cadherin 4
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FLCN folliculin
FLNA filamin A, alpha
FOXC2 forkhead box C2
FOXO1 forkhead box O1
FUS FUS RNA binding protein
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GDNF glial cell derived neurotrophic factor
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GPC3 glypican 3
GPC4 glypican 4
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HDAC4 histone deacetylase 4
HMGA2 high mobility group AT-hook 2
HRAS Harvey rat sarcoma viral oncogene homolog
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IGF2 insulin-like growth factor 2
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
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
KRT10 keratin 10, type I
KRT17 keratin 17, type I
LEMD3 LEM domain containing 3
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCC mutated in colorectal cancers
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEN1 multiple endocrine neoplasia I
MITF microphthalmia-associated transcription factor
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MNX1 motor neuron and pancreas homeobox 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MTAP methylthioadenosine phosphorylase
NBN nibrin
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOTCH3 notch 3
NR4A3 nuclear receptor subfamily 4, group A, member 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
OCA2 oculocutaneous albinism II
OFD1 oral-facial-digital syndrome 1
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PAX7 paired box 7
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDGFRL platelet-derived growth factor receptor-like
PHOX2B paired-like homeobox 2b
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLCD1 phospholipase C, delta 1
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLH polymerase (DNA directed), eta
POT1 protection of telomeres 1
PRDM16 PR domain containing 16
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPRJ protein tyrosine phosphatase, receptor type, J
RAD54B RAD54 homolog B (S. cerevisiae)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1 retinoblastoma 1
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RPS19 ribosomal protein S19
RUNX1 runt-related transcription factor 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
SETBP1 SET binding protein 1
SKI SKI proto-oncogene
SLC22A18 solute carrier family 22, member 18
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SMAD4 SMAD family member 4
SOS1 son of sevenless homolog 1 (Drosophila)
SOX18 SRY (sex determining region Y)-box 18
SOX2 SRY (sex determining region Y)-box 2
SPRED1 sprouty-related, EVH1 domain containing 1
SSX1 synovial sarcoma, X breakpoint 1
SSX2 synovial sarcoma, X breakpoint 2
STK11 serine/threonine kinase 11
SUFU suppressor of fused homolog (Drosophila)
TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFG TRK-fused gene
TP53 tumor protein p53
TRIM37 tripartite motif containing 37
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XPC xeroderma pigmentosum, complementation group C