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
CUI: C0004096
Disease: Asthma
Asthma 		0.480 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.480 GeneticVariation disease GWASCAT A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases. 29785011 2018
CUI: C0004096
Disease: Asthma
Asthma 		0.480 GeneticVariation disease GWASCAT Identification of Four Novel Loci in Asthma in European American and African American Populations. 27611488 2017
CUI: C0004096
Disease: Asthma
Asthma 		0.480 GeneticVariation disease BEFREE Our findings first suggested that the variants in RAD50-IL13 region were not associated with asthma risk in Northeastern Han Chinese children. 26365633 2016
CUI: C0004096
Disease: Asthma
Asthma 		0.480 Biomarker disease BEFREE IL13, rather than RAD50, IL4, or IL5, is more likely to be the asthma susceptibility gene. 27050946 2016
CUI: C0004096
Disease: Asthma
Asthma 		0.480 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C0004096
Disease: Asthma
Asthma 		0.480 GeneticVariation disease BEFREE This is the first study validating that IL33, IL1R1, and RAD50 genes are associated with the risk of asthma in Chinese population. 26493291 2015
CUI: C0004096
Disease: Asthma
Asthma 		0.480 GeneticVariation disease BEFREE Genomewide association and epigenetic studies found a region within the RAD50 gene on chromosome 5q31 to be associated with total serum IgE levels and asthma. 24866380 2014
CUI: C0004096
Disease: Asthma
Asthma 		0.480 Biomarker disease CTD_human Four of these, GSDMB, IL33, RAD50 and IL1RL1, were previously reported as asthma susceptibility loci, but the effect sizes for these loci in our cohort were considerably larger than in the previous genome-wide association studies of asthma. 24241537 2014