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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0.710 | GeneticVariation | BEFREE | The oldest patient with A-T reported so far was a 78-year-old patient who was compound heterozygous for <i>ATM</i> c.8147T>C. | 30819809 | 2019 | |||||||
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C | 0.710 | CausalMutation | CLINVAR | Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. | 26976419 | 2016 | ||||||
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C | 0.710 | CausalMutation | CLINVAR | Clinical variability in ataxia-telangiectasia. | 25957637 | 2015 | ||||||
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C | 0.710 | GeneticVariation | CLINVAR | New mutations in the ATM gene and clinical data of 25 AT patients. | 21965147 | 2011 | ||||||
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C | 0.710 | CausalMutation | CLINVAR | New mutations in the ATM gene and clinical data of 25 AT patients. | 21965147 | 2011 | ||||||
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C | 0.710 | CausalMutation | CLINVAR | Ataxia telangiectasia: the consequences of a delayed diagnosis. | 21354641 | 2011 | ||||||
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C | 0.710 | CausalMutation | CLINVAR | Clinical spectrum of ataxia-telangiectasia in adulthood. | 19535770 | 2009 | ||||||
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C | 0.710 | CausalMutation | CLINVAR | Ataxia-telangiectasia: without ataxia or telangiectasia? | 19605768 | 2009 | ||||||
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C | 0.710 | GeneticVariation | CLINVAR | Clinical spectrum of ataxia-telangiectasia in adulthood. | 19535770 | 2009 | ||||||
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C | 0.710 | CausalMutation | CLINVAR | Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. | 16864838 | 2006 | ||||||
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C | 0.710 | GeneticVariation | CLINVAR | Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. | 16864838 | 2006 | ||||||
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C | 0.710 | GeneticVariation | CLINVAR | Functional consequences of sequence alterations in the ATM gene. | 15279808 | 2005 | ||||||
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C | 0.710 | CausalMutation | CLINVAR | Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. | 11805335 | 2002 | ||||||
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C | 0.710 | GeneticVariation | CLINVAR | Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. | 11805335 | 2002 | ||||||
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C | 0.710 | CausalMutation | CLINVAR | "Comments on: ""Two Routes for Renal 99mTc-DMSA Uptake into the Renal Cortical Tubular Cell""." | 2557216 | 1989 |