Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites. 17726045 2007
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. 25122203 2014
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy. 19404735 2010
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome. 27039262 2016
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity. 25077176 2014
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. 10425038 1999
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587 1998
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835 1996
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. 15039971 2004
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. 11805335 2002
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. 25572163 2015
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR JPred4: a protein secondary structure prediction server. 25883141 2015
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Prevalence of deleterious ATM germline mutations in gastric cancer patients. 26506520 2015
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. 23632773 2013
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Ataxia-telangiectasia with female fertility. 25914063 2015
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. 22529920 2012
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. 22345219 2012
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980 1998
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95. 22649200 2012
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR New mutations in the ATM gene and clinical data of 25 AT patients. 21965147 2011
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866 1998
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100 GeneticVariation group CLINVAR Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases. 24506781 2014