ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Disease: Primary immune deficiency disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.010 GeneticVariation group BEFREE Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in ataxia-telangiectasia mutated (ATM) gene encoding a serine/threonine protein kinase. 30685876 2019