renal cell carcinoma Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
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://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:4450
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Genes

79 genes associated with the disease renal cell carcinoma in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
EPAS1 endothelial PAS domain protein 1 1.48714
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 1.4474
ZEB2 zinc finger E-box binding homeobox 2 1.39396
SCARB1 scavenger receptor class B, member 1 1.37327
PDZD2 PDZ domain containing 2 1.21019
CEP85L centrosomal protein 85kDa-like 1.04846
USP10 ubiquitin specific peptidase 10 1.02476
APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 1.02476
TMEM44 transmembrane protein 44 1.01514
KAT2B K(lysine) acetyltransferase 2B 1.00407
LINC00189 long intergenic non-protein coding RNA 189 0.986376
DCC DCC netrin 1 receptor 0.971169
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 0.960778
FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 0.951514
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.947208
OGFRL1 opioid growth factor receptor-like 1 0.932777
FRMD8 FERM domain containing 8 0.93103
ASCC2 activating signal cointegrator 1 complex subunit 2 0.916706
PCSK6 proprotein convertase subtilisin/kexin type 6 0.911472
IQSEC3 IQ motif and Sec7 domain 3 0.898875
MAN1B1 mannosidase, alpha, class 1B, member 1 0.88094
SHROOM3 shroom family member 3 0.877977
LOC146513 uncharacterized LOC146513 0.877977
MIR99AHG mir-99a-let-7c cluster host gene 0.877396
CNTN4 contactin 4 0.873981
ZMYND15 zinc finger, MYND-type containing 15 0.871229
TTYH1 tweety family member 1 0.859451
LOC100507195 uncharacterized LOC100507195 0.857354
BTNL2 butyrophilin-like 2 0.84116
ALKBH6 alkB, alkylation repair homolog 6 (E. coli) 0.832379
DOCK1 dedicator of cytokinesis 1 0.826025
CLIP3 CAP-GLY domain containing linker protein 3 0.818753
SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 0.815307
PTPRO protein tyrosine phosphatase, receptor type, O 0.789217
PAQR5 progestin and adipoQ receptor family member V 0.788564
GPA33 glycoprotein A33 (transmembrane) 0.788239
ADARB2 adenosine deaminase, RNA-specific, B2 (non-functional) 0.783797
AIFM2 apoptosis-inducing factor, mitochondrion-associated, 2 0.780437
SP100 SP100 nuclear antigen 0.778649
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6 0.776603
GTSF1 gametocyte specific factor 1 0.769887
RNF168 ring finger protein 168, E3 ubiquitin protein ligase 0.767882
FAM13A family with sequence similarity 13, member A 0.764659
DPH6 diphthamine biosynthesis 6 0.762941
FOXP1 forkhead box P1 0.754478
MRPL23 mitochondrial ribosomal protein L23 0.754478
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 0.748359
PPA2 pyrophosphatase (inorganic) 2 0.734059
DLG2 discs, large homolog 2 (Drosophila) 0.714752
PARK2 parkin RBR E3 ubiquitin protein ligase 0.712959
GNAI1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 0.712564
NUDT3 nudix (nucleoside diphosphate linked moiety X)-type motif 3 0.711585
PITPNM3 PITPNM family member 3 0.711001
DOCK5 dedicator of cytokinesis 5 0.708319
CDH23 cadherin-related 23 0.705888
DGKI diacylglycerol kinase, iota 0.70172
TMEM222 transmembrane protein 222 0.701015
CEP128 centrosomal protein 128kDa 0.698242
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.692261
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 0.691618
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 0.689868
AADACL3 arylacetamide deacetylase-like 3 0.688615
ARID1A AT rich interactive domain 1A (SWI-like) 0.682862
INSC inscuteable homolog (Drosophila) 0.681111
LOXHD1 lipoxygenase homology domains 1 0.678682
MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0.6784
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 0.676587
SLIT3 slit homolog 3 (Drosophila) 0.675623
MROH2A maestro heat-like repeat family member 2A 0.675077
RAI1 retinoic acid induced 1 0.674534
MTUS1 microtubule associated tumor suppressor 1 0.67239
ADGRB3 adhesion G protein-coupled receptor B3 0.672258
SASH1 SAM and SH3 domain containing 1 0.669747
ONECUT2 one cut homeobox 2 0.668936
GPR17 G protein-coupled receptor 17 0.668836
AXIN2 axin 2 0.627273
ZC3HC1 zinc finger, C3HC-type containing 1 0.611686
DNAH12 dynein, axonemal, heavy chain 12 0.555623
TMEM132D transmembrane protein 132D 0.50809