C11orf65, chromosome 11 open reading frame 65, 160140
N. diseases: 45; N. variants: 387
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. | 26822949 | 2016 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. | 26483394 | 2016 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. | 24556621 | 2014 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. | 24556621 | 2014 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes. | 23454770 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. | 21833744 | 2011 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Functional consequences of ATM sequence variants for chromosomal radiosensitivity. | 15101044 | 2004 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Functional consequences of ATM sequence variants for chromosomal radiosensitivity. | 15101044 | 2004 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers. | 14970866 | 2004 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | DNA damage-induced cell-cycle phase regulation of p53 and p21waf1 in normal and ATM-defective cells. | 14586414 | 2003 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. | 12497634 | 2003 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. | 12673797 | 2003 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. | 10817650 | 2000 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. | 10817650 | 2000 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | 9887333 | 1999 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | 9887333 | 1999 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. | 9443866 | 1998 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. | 8808599 | 1996 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. | 8808599 | 1996 |