Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Prevalence of deleterious ATM germline mutations in gastric cancer patients. 26506520 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR T-cell ALL in ataxia telangiectasia cured with only 7 weeks of anti-leukemic therapy. 24663073 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report. 26380989 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Prevalence of deleterious ATM germline mutations in gastric cancer patients. 26506520 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Clinical variability in ataxia-telangiectasia. 25957637 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Spontaneous ATM Gene Reversion in A-T iPSC to Produce an Isogenic Cell Line. 26677768 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Myoclonus in ataxia-telangiectasia. 25793145 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. 26094658 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. 25572163 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening. 26296696 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. 26270727 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR HBOC multi-gene panel testing: comparison of two sequencing centers. 26022348 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage? 26693373 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Ataxia-telangiectasia with female fertility. 25914063 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland. 25330149 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis. 26491069 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 25503501 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 GeneticVariation group CLINVAR Ataxia telangiectasia: more variation at clinical and cellular levels. 25040471 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Ataxia telangiectasia: more variation at clinical and cellular levels. 25040471 2015
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation group CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872 2014