Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation CLINVAR The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies. 28376765

2017
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 CausalMutation CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983

2016
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923

2016
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949

2016
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation CLINVAR Patterns and functional implications of rare germline variants across 12 cancer types. 26689913

2015
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441

2015
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441

2015
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation CLINVAR Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways. 21778326

2011
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation CLINVAR Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 19409520

2009
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 CausalMutation CLINVAR Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers. 18281469

2008
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation CLINVAR Evaluation of RAD50 in familial breast cancer predisposition. 16385572

2006
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation CLINVAR RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. 16474176

2006
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation CLINVAR Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. 14684699

2003
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.120 GeneticVariation CLINVAR

Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. 27913932

2017
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. 28961279

2017
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Multigene testing of moderate-risk genes: be mindful of the missense. 26787654

2016
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983

2016
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949

2016
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing. 25151137

2015
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation CLINVAR Human RAD50 makes a functional DNA-binding complex. 25828805

2015
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441

2015
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 26023681

2015
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation CLINVAR Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. 26094658

2015
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation CLINVAR Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 26023681

2015