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 		0.020 GeneticVariation disease LHGDN High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays. 11714443 2001
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.020 GeneticVariation disease BEFREE High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays. 11714443 2001
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.020 GeneticVariation disease BEFREE Circulating lymphocytes from patients with the DNA-repair-deficient disorders, xeroderma pigmentosum (XP) and ataxia telangiectasia (A-T) have elevated frequencies of mutants at the hypoxanthine-guanine phosphoribosyltransferase (hprt) locus. 7683756 1993