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: 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 ABC ATPase signature helices in Rad50 link nucleotide state to Mre11 interface for DNA repair. 21441914

2011
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 Breast cancer susceptibility: current knowledge and implications for genetic counselling. 19092773

2009
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 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. 26094658

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 Evaluation of RAD50 in familial breast cancer predisposition. 16385572

2006
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation CLINVAR Evaluation of RAD50 in familial breast cancer predisposition. 16385572

2006
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation 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 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. 24240112

2014
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Germline variants in MRE11/RAD50/NBN complex genes in childhood leukemia. 24093751

2013
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: 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: 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 19409520

2009
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation CLINVAR Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 19409520

2009
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: 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: 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 Learning our ABCs: Rad50 directs MRN repair functions via adenylate kinase activity from the conserved ATP binding cassette. 17386254

2007
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation CLINVAR Molecular cloning and characterization of splice variants of human RAD50 gene. 10415333

1999
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Mre11-Rad50-Nbs1 conformations and the control of sensing, signaling, and effector responses at DNA double-strand breaks. 21035407

2010
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