Disease: Ataxia Telangiectasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827 2018
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052 2017
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052 2017
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study. 27873105 2017
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. 27913932 2017
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002 2017
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations. 28007021 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins. 26635394 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. 26915675 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer. 27599564 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. 26483394 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. 27083775 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. 27159176 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Novel ATM mutations with ataxia-telangiectasia. 26628246 2016