Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1543
Gene Symbol: CYP1A1
CYP1A1
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 AlteredExpression LHGDN Genetic variation in genes for the xenobiotic-metabolizing enzymes CYP1A1, EPHX1, GSTM1, GSTT1, and GSTP1 and susceptibility to colorectal cancer in Lynch syndrome. 18768509

2008
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 GeneticVariation LHGDN Smooth-muscle myosin mutations in hereditary non-polyposis colorectal cancer syndrome. 18941465

2008
Entrez Id: 1312
Gene Symbol: COMT
COMT
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 GeneticVariation LHGDN Cytochrome P450 17A1 and catechol O-methyltransferase polymorphisms and age at Lynch syndrome colon cancer onset in Newfoundland. 17606708

2007
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 GeneticVariation LHGDN The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1. 17224235

2007
Entrez Id: 768
Gene Symbol: CA9
CA9
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 AlteredExpression LHGDN Carbonic anhydrase IX is highly expressed in hereditary nonpolyposis colorectal cancer. 17855694

2007
Entrez Id: 6790
Gene Symbol: AURKA
AURKA
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 GeneticVariation LHGDN Association between Aurora-A kinase polymorphisms and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population. 17219423

2007
Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 GeneticVariation LHGDN Cytochrome P450 17A1 and catechol O-methyltransferase polymorphisms and age at Lynch syndrome colon cancer onset in Newfoundland. 17606708

2007
Entrez Id: 6041
Gene Symbol: RNASEL
RNASEL
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 GeneticVariation LHGDN The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1. 17224235

2007
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 Biomarker LHGDN Inverse effects of mucin on survival of matched hereditary nonpolyposis colorectal cancer and sporadic colorectal cancer patients. 16857798

2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 GeneticVariation LHGDN BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. 15782118

2005
Entrez Id: 834
Gene Symbol: CASP1
CASP1
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 GeneticVariation LHGDN Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors. 12215842

2002
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 GeneticVariation LHGDN Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors. 12215842

2002
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.010 GeneticVariation LHGDN Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors. 12215842

2002
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.100 CausalMutation CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107

2017
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.100 CausalMutation CLINVAR Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome. 28369758

2017
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.100 GeneticVariation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.100 CausalMutation CLINVAR Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. 28195393

2017
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.100 GeneticVariation CLINVAR Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. 28531214

2017
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.100 GeneticVariation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.100 GeneticVariation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.100 CausalMutation CLINVAR Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. 27616075

2017
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.100 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.100 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.100 CausalMutation CLINVAR Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. 26687385

2016
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.100 CausalMutation CLINVAR Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. 26483394

2016