Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.020 GeneticVariation phenotype BEFREE The association of TNF genotype with earlier death in CCC should be taken into account when planning therapeutic intervention. 16427798 2006
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
0.020 GeneticVariation phenotype BEFREE The purpose of the present study was to compare the expression level of EGFR, syndecan-1 and ß-catenin in FLC, conventional hepatocellular carcinoma (cHCC) and cholangiocellular carcinoma (CCC) and to investigate the possibility of mutation both in EGFR and K-RAS. 22872444 2013
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.020 GeneticVariation phenotype BEFREE These results indicate that TNF polymorphisms are associated neither to CCC development nor to progression to more severe forms of cardiomyopathy in Brazilian Chagas disease patients. 17141882 2007
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
0.010 GeneticVariation phenotype BEFREE In conclusion, HPA-3 variant could be a protection factor for CCC in the female patients. 31538834 2020
Entrez Id: 472
Gene Symbol: ATM
ATM
0.010 GeneticVariation phenotype BEFREE ATM somatic mutation was more frequently detected in CCC (9%) and EC patients (18%) than in HGSC patients (4%). 31780705 2019
Entrez Id: 2130
Gene Symbol: EWSR1
EWSR1
0.010 GeneticVariation phenotype BEFREE Using break apart probe fluorescence in situ hybridization testing the tissue revealed the presence of a recurring translocation of the Ewing sarcoma (EWSR1) gene, confirming the diagnosis.CCC is a rare primary airway tumor. 30429005 2018
Entrez Id: 153090
Gene Symbol: DAB2IP
DAB2IP
0.010 GeneticVariation phenotype BEFREE Finally, 3 patients with AIP1 were diagnosed with cholangiocellular carcinoma (CCC).<i>Conclusion</i>. 28348580 2017
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
0.010 GeneticVariation phenotype BEFREE The second patient had a T11 wedge vertebra and a missense mutation at amino acid 413 corresponding to CCA (Pro)-->CTA (Leu). 16207213 2005
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
0.010 GeneticVariation phenotype BEFREE The differences in signaling pathway characteristics under sorafenib treatment between HCC (HLF, Huh7, PLC/PRF/5) and CCC (RBE, YSCCC, Huh28) cell lines were therefore investigated using cell proliferation, western blotting, and apoptosis analyses. 29251327 2018
Entrez Id: 7498
Gene Symbol: XDH
XDH
0.010 GeneticVariation phenotype BEFREE The XDH/XO cDNA and AO cDNA sequences of the xanthinuric patient were consistent with previously reported ones, whereas the MCS cDNA sequence revealed a point mutation of G to C in nucleotide 466, which changed codon 156 from GCC (Ala) to CCC (Pro). 14624414 2003
Entrez Id: 105375847
Gene Symbol: CERNA3
CERNA3
0.010 GeneticVariation phenotype BEFREE The second patient had a T11 wedge vertebra and a missense mutation at amino acid 413 corresponding to CCA (Pro)-->CTA (Leu). 16207213 2005
Entrez Id: 316
Gene Symbol: AOX1
AOX1
0.010 GeneticVariation phenotype BEFREE The XDH/XO cDNA and AO cDNA sequences of the xanthinuric patient were consistent with previously reported ones, whereas the MCS cDNA sequence revealed a point mutation of G to C in nucleotide 466, which changed codon 156 from GCC (Ala) to CCC (Pro). 14624414 2003
Entrez Id: 330
Gene Symbol: BIRC3
BIRC3
0.010 GeneticVariation phenotype BEFREE Finally, 3 patients with AIP1 were diagnosed with cholangiocellular carcinoma (CCC).<i>Conclusion</i>. 28348580 2017
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
0.010 GeneticVariation phenotype BEFREE However, we found a CCC (Pro) to CGC (Arg) codon 179 mutation in the ACI-158 serous carcinoma cell line, a CCC (Pro) to CTC (Leu) in a primary serous carcinoma as well as a CGC (Arg) to CAC (His) codon 258 mutation in a poorly differentiated endometrioid cancer. 21882256 2012
Entrez Id: 7099
Gene Symbol: TLR4
TLR4
0.010 GeneticVariation phenotype BEFREE In contrast, the heterozygous Toll-like receptor 4 (TLR4)-deficiency genotype D299G/T399I occurred more frequently in asymptomatic (14.8%) than CCC patients (3.1%; P = 0.02). 22302853 2012
Entrez Id: 9948
Gene Symbol: WDR1
WDR1
0.010 GeneticVariation phenotype BEFREE Finally, 3 patients with AIP1 were diagnosed with cholangiocellular carcinoma (CCC).<i>Conclusion</i>. 28348580 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.010 GeneticVariation phenotype BEFREE The frequently discordant genotypes of usual ductal hyperplasia/columnar cell change and concurrent carcinoma support a role for PIK3CA-activating point mutations in breast epithelial proliferation, perhaps more so than transformation. 24186142 2014
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.010 GeneticVariation phenotype BEFREE Germline BRCA1/2 mutations were frequently detected in HGSC and were rarely observed in CCC, EC, and MC patients. 31780705 2019
Entrez Id: 23204
Gene Symbol: ARL6IP1
ARL6IP1
0.010 GeneticVariation phenotype BEFREE Finally, 3 patients with AIP1 were diagnosed with cholangiocellular carcinoma (CCC).<i>Conclusion</i>. 28348580 2017
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
0.010 GeneticVariation phenotype BEFREE On the other hand, neither IGF2 transcripts nor H19 transcripts were detected in 2 CCCs or 10 MLCs studied. 9609998 1998
Entrez Id: 9863
Gene Symbol: MAGI2
MAGI2
0.010 GeneticVariation phenotype BEFREE Finally, 3 patients with AIP1 were diagnosed with cholangiocellular carcinoma (CCC).<i>Conclusion</i>. 28348580 2017
Entrez Id: 760
Gene Symbol: CA2
CA2
0.010 GeneticVariation phenotype BEFREE However, we found a CCC (Pro) to CGC (Arg) codon 179 mutation in the ACI-158 serous carcinoma cell line, a CCC (Pro) to CTC (Leu) in a primary serous carcinoma as well as a CGC (Arg) to CAC (His) codon 258 mutation in a poorly differentiated endometrioid cancer. 21882256 2012
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.010 GeneticVariation phenotype BEFREE Therefore, in contrast to the ras oncogenes, mutation of the p53 gene was frequently involved in the development of CCCs in both Japanese and Thai patients, irrespective of any difference in etiology. 8280380 1993
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.010 GeneticVariation phenotype BEFREE The purpose of the present study was to compare the expression level of EGFR, syndecan-1 and ß-catenin in FLC, conventional hepatocellular carcinoma (cHCC) and cholangiocellular carcinoma (CCC) and to investigate the possibility of mutation both in EGFR and K-RAS. 22872444 2013
Entrez Id: 139741
Gene Symbol: ACTRT1
ACTRT1
0.010 GeneticVariation phenotype BEFREE Finally, 3 patients with AIP1 were diagnosed with cholangiocellular carcinoma (CCC).<i>Conclusion</i>. 28348580 2017