renal cell carcinoma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.|A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. (Experimental Factor Ontology, EFO_0000681)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005584
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Genes

32 genes associated with the renal cell carcinoma 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
APC adenomatous polyposis coli
AXIN2 axin 2
BAX BCL2-associated X protein
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CDC73 cell division cycle 73
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DCC DCC netrin 1 receptor
DIRC2 disrupted in renal carcinoma 2
EP300 E1A binding protein p300
FGFR3 fibroblast growth factor receptor 3
FLCN folliculin
FN1 fibronectin 1
HNF1A HNF1 homeobox A
MCC mutated in colorectal cancers
MET MET proto-oncogene, receptor tyrosine kinase
MLH3 mutL homolog 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OGG1 8-oxoguanine DNA glycosylase
PDGFRL platelet-derived growth factor receptor-like
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PRCC papillary renal cell carcinoma (translocation-associated)
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPRJ protein tyrosine phosphatase, receptor type, J
RAD54B RAD54 homolog B (S. cerevisiae)
RNF139 ring finger protein 139
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
TFE3 transcription factor binding to IGHM enhancer 3
TP53 tumor protein p53
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase