PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Lhermitte-Duclos disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793345
rs1064793345
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease:
Lhermitte-Duclos disease 		C 0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938 2012
dbSNP: rs1064793345
rs1064793345
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease:
Lhermitte-Duclos disease 		C 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012