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 |
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 |
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 |
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 |
Nijmegen Breakage Syndrome-Like Disorder
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Patterns and functional implications of rare germline variants across 12 cancer types.
|
26689913 |
2015 |
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 |
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 |
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 |
Nijmegen Breakage Syndrome-Like Disorder
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
|
19409520 |
2009 |
Nijmegen Breakage Syndrome-Like Disorder
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
|
19409520 |
2009 |
Nijmegen Breakage Syndrome-Like Disorder
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
|
19409520 |
2009 |
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 |
Nijmegen Breakage Syndrome-Like Disorder
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of RAD50 in familial breast cancer predisposition.
|
16385572 |
2006 |
Nijmegen Breakage Syndrome-Like Disorder
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.
|
16474176 |
2006 |
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 |
Nijmegen Breakage Syndrome-Like Disorder
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Asthma
|
0.480 |
GeneticVariation
|
disease |
GWASCAT |
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
|
30929738 |
2019 |
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 |
Asthma
|
0.480 |
GeneticVariation
|
disease |
GWASCAT |
Identification of Four Novel Loci in Asthma in European American and African American Populations.
|
27611488 |
2017 |
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 |
Asthma
|
0.480 |
Biomarker
|
disease |
BEFREE |
IL13, rather than RAD50, IL4, or IL5, is more likely to be the asthma susceptibility gene.
|
27050946 |
2016 |
Asthma
|
0.480 |
GeneticVariation
|
disease |
GWASCAT |
Detection and interpretation of shared genetic influences on 42 human traits.
|
27182965 |
2016 |
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 |
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 |
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 |