TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: Achalasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1321756
Disease: Achalasia
Achalasia 		0.020 GeneticVariation disease BEFREE We applied a fluorescence in situ hybridization technique in 20 such patients and found aneuploidies of chromosomes 7, 11, and 17 in 60% (12 of 20 specimens) and deletion of the TP53 gene in 54.5% (6 of 11 specimens; it was only possible to obtain data by FISH technique from 11 of the 20 achalasia patients). 15104278 2004
CUI: C1321756
Disease: Achalasia
Achalasia 		0.020 GeneticVariation disease BEFREE (1.) p53 alterations, overexpression and mutational change, are an early event in patients with achalasia; (2.) 10757119 2000