Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610 1992
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. 1338764 1992
Entrez Id: 5925
Gene Symbol: RB1
RB1 		0.100 CausalMutation group CLINVAR Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis. 1577465 1992
Entrez Id: 5925
Gene Symbol: RB1
RB1 		0.100 CausalMutation group CLINVAR Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. 1352883 1992
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.170 GeneticVariation group CLINVAR TP53 gene mutation profile in esophageal squamous cell carcinomas. 8242631 1993
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.170 CausalMutation group CLINVAR Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings. 8479749 1993
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.170 GeneticVariation group CLINVAR The transforming and suppressor functions of p53 alleles: effects of mutations that disrupt phosphorylation, oligomerization and nuclear translocation. 8458321 1993
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.170 GeneticVariation group BEFREE Direct sequencing of the mutant band revealed that one patient had a C to T transition at codon 138 (Ala to Val) and one patient had a G to C transversion at codon 139 (Lys to Asn). p53 mutations in germline cells in hereditary cancer syndromes predispose the family members to the development of malignancies. 8321049 1993
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.130 GeneticVariation group CLINVAR Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. 8261515 1993
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		0.130 CausalMutation group CLINVAR Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. 8261515 1993
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis. 8395941 1993
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. 8381579 1993
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Alleles of the APC gene: an attenuated form of familial polyposis. 8252630 1993
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 GeneticVariation group CLINVAR Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. 8381580 1993
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR The APC (adenomatous polyposis coli) gene: a novel mutation in an FAP patient and a DdeI polymorphism in the 5' noncoding region. 8103406 1993
Entrez Id: 324
Gene Symbol: APC
APC 		0.110 CausalMutation group CLINVAR Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. 8381580 1993
Entrez Id: 2176
Gene Symbol: FANCC
FANCC 		0.100 CausalMutation group CLINVAR A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. 7689011 1993
Entrez Id: 2176
Gene Symbol: FANCC
FANCC 		0.100 CausalMutation group CLINVAR A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. 8348157 1993
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels. 7904209 1993
Entrez Id: 5925
Gene Symbol: RB1
RB1 		0.100 CausalMutation group CLINVAR Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma. 8346255 1993
Entrez Id: 2176
Gene Symbol: FANCC
FANCC 		0.100 CausalMutation group CLINVAR FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. 8103176 1993
Entrez Id: 5979
Gene Symbol: RET
RET 		0.200 CausalMutation group CLINVAR Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. 7907913 1994
Entrez Id: 5979
Gene Symbol: RET
RET 		0.200 CausalMutation group CLINVAR RET proto-oncogene mutations in French MEN 2A and FMTC families. 7874109 1994
Entrez Id: 5979
Gene Symbol: RET
RET 		0.200 CausalMutation group CLINVAR RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. 7849720 1994
Entrez Id: 5979
Gene Symbol: RET
RET 		0.200 CausalMutation group CLINVAR Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. 7881414 1994