ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Disease: Ataxia-Telangiectasia Variant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876175
Disease: Ataxia-Telangiectasia Variant
Ataxia-Telangiectasia Variant 		0.400 GermlineCausalMutation disease ORPHANET Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. 23946315 2013
CUI: C1876175
Disease: Ataxia-Telangiectasia Variant
Ataxia-Telangiectasia Variant 		0.400 CausalMutation disease CLINVAR