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 "Comments on: ""Two Routes for Renal 99mTc-DMSA Uptake into the Renal Cortical Tubular Cell""." 2557216 1989
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 7792600 1995
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR New mutations in the ataxia telangiectasia gene. 8698354 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR ATM mutations in cancer families. 8797579 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Analysis of the ATM protein in wild-type and ataxia telangiectasia cells. 9000145 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Biallelic mutations in the ATM gene in T-prolymphocytic leukemia. 9334731 1997
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. 9450874 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease 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
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease 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
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR ATM is usually rearranged in T-cell prolymphocytic leukaemia. 9488043 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9497252 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9497252 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 GeneticVariation disease CLINVAR A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587 1998
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.100 CausalMutation disease CLINVAR Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5. 9600235 1998