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 | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
0.800 | GeneticVariation | UNIPROT | Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. | 27664052 | 2017 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. | 24418350 | 2014 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. | 20050888 | 2010 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Modeling ATM mutant proteins from missense changes confirms retained kinase activity. | 19431188 | 2009 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. | 10817650 | 2000 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. | 10234507 | 1999 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | 9887333 | 1999 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. | 9450874 | 1998 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. | 9872980 | 1998 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. | 9443866 | 1998 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. | 9711876 | 1998 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. | 9792409 | 1998 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Genotype-phenotype relationships in ataxia-telangiectasia and variants. | 9497252 | 1998 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. | 9521587 | 1998 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. | 9463314 | 1998 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. | 9150358 | 1997 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Predominance of null mutations in ataxia-telangiectasia. | 8845835 | 1996 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. | 8808599 | 1996 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. | 8789452 | 1996 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia. | 9043869 | 1996 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | A single ataxia telangiectasia gene with a product similar to PI-3 kinase. | 7792600 | 1995 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. | 8589678 | 1995 | |||||||
|
|
|
G | 0.800 | GeneticVariation | CLINVAR |