Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER
0.800 CausalMutation CLINVAR Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. 29348823

2017

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER
0.800 CausalMutation CLINVAR Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137

2016

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER
0.800 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441

2015

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER
0.800 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER
0.800 CausalMutation CLINVAR Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms. 23912341

2013

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER
0.800 CausalMutation CLINVAR Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair. 23080121

2012

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER
0.800 CausalMutation CLINVAR Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. 21227757

2011

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER
0.800 GeneticVariation CLINVAR hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. 11371508

2001

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER
0.800 GeneticVariation CLINVAR The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. 10612394

1999

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 CausalMutation CLINVAR Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient with Familial Breast Cancer. 28559769

2017

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 GeneticVariation CLINVAR Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. 29170652

2017

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 CausalMutation CLINVAR Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 25503501

2015

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 CausalMutation CLINVAR Ataxia telangiectasia: more variation at clinical and cellular levels. 25040471

2015

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 CausalMutation CLINVAR Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007

2012

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 GeneticVariation CLINVAR Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. 21227757

2011

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 CausalMutation CLINVAR Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene. 19383352

2008

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 GeneticVariation CLINVAR MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. 15269180

2004

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 CausalMutation CLINVAR Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1/ATLD1) mice. 14690604

2003

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 GeneticVariation CLINVAR hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. 11371508

2001

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 CausalMutation CLINVAR The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. 10612394

1999

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Ataxia-Telangiectasisa-Like Disorder 1
0.700 CausalMutation CLINVAR A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. 8445618

1993

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
Hereditary Breast and Ovarian Cancer Syndrome
0.400 GeneticVariation CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890

2016

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
0.110 CausalMutation CLINVAR

Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia
0.110 CausalMutation CLINVAR