Disease: Nijmegen Breakage Syndrome-Like Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation disease CLINVAR The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies. 28376765 2017
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 CausalMutation disease CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983 2016
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation disease CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923 2016
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation disease CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949 2016
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation disease CLINVAR Patterns and functional implications of rare germline variants across 12 cancer types. 26689913 2015
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 CausalMutation disease 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
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation disease 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
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation disease 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
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 Biomarker disease GENOMICS_ENGLAND Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 19409520 2009
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation disease CLINVAR Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 19409520 2009
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GermlineCausalMutation disease ORPHANET Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 19409520 2009
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 CausalMutation disease CLINVAR Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers. 18281469 2008
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation disease CLINVAR Evaluation of RAD50 in familial breast cancer predisposition. 16385572 2006
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation disease CLINVAR RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. 16474176 2006
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 GeneticVariation disease CLINVAR Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. 14684699 2003
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 Biomarker disease CTD_human