Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR "BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the ""BRCA paradox""?" 22984553 2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 CausalMutation group CLINVAR "BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the ""BRCA paradox""?" 22984553 2012
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.130 CausalMutation group CLINVAR "BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the ""BRCA paradox""?" 22984553 2012
Entrez Id: 5979
Gene Symbol: RET
RET 		0.200 CausalMutation group CLINVAR "Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 ""Janus"" genetic variation." 20152359 2010
Entrez Id: 5925
Gene Symbol: RB1
RB1 		0.100 CausalMutation group CLINVAR "Identification of three novel RB1 mutations in Brazilian patients with retinoblastoma by ""exon by exon"" PCR mediated SSCP analysis." 15166261 2004
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR "Is the P25L a ""real"" VHL mutation?" 11257211 2001
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 CausalMutation group CLINVAR "Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations." 19340607 2009
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.130 GeneticVariation group CLINVAR "Multiple small ""imaging"" branch-duct type intraductal papillary mucinous neoplasms (IPMNs) in familial pancreatic cancer: indicator for concomitant high grade pancreatic intraepithelial neoplasia?" 23179793 2013
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 CausalMutation group CLINVAR "Mutational spectrum in breast cancer associated 29021639 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.150 CausalMutation group CLINVAR "[Essential to discover hereditary colorectal and endometrial cancer. Mutations in ""HNPCC individuals"" can cause several different tumors]." 12362848 2002
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 GeneticVariation group CLINVAR 126 novel mutations in Italian patients with neurofibromatosis type 1. 26740943 2015
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR 126 novel mutations in Italian patients with neurofibromatosis type 1. 26740943 2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.110 CausalMutation group CLINVAR 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. 26273102 2015
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		0.110 GeneticVariation group CLINVAR 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. 26273102 2015
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.100 GeneticVariation group CLINVAR 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. 26273102 2015
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		0.100 CausalMutation group CLINVAR 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. 26273102 2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.100 CausalMutation group CLINVAR 15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas. 26113600 2015
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.170 CausalMutation group CLINVAR 17p Deletion in acute myeloid leukemia and myelodysplastic syndrome. Analysis of breakpoints and deleted segments by fluorescence in situ. 9446663 1998
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.170 GeneticVariation group CLINVAR 2009 version of the Chompret criteria for Li Fraumeni syndrome. 19652052 2009
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.130 CausalMutation group CLINVAR 2157delG: a frequent mutation in BRCA2 missed by PTT. 11106360 2000
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.100 CausalMutation group CLINVAR BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. 28174632 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 CausalMutation group CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.130 GeneticVariation group CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.130 CausalMutation group CLINVAR BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. 29088781 2017