PTEN, phosphatase and tensin homolog, 5728

N. diseases: 107; N. variants: 343
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 GeneticVariation disease CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 CausalMutation disease CLINVAR