Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541

1996

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541

1996

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918

1996

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR ATM mutations in cancer families. 8797579

1996

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835

1996

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835

1996

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR A gene transcribed from the bidirectional ATM promoter coding for a serine rich protein: amino acid sequence, structure and expression studies. 8923007

1996

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia. 9043869

1996

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Heterozygous ATM mutations do not contribute to early onset of breast cancer. 9054948

1997

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. 9150358

1997

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Recombinant ATM protein complements the cellular A-T phenotype. 9244351

1997

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR 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

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9497252

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia. 9682216

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999