PTEN, phosphatase and tensin homolog, 5728

N. diseases: 983; N. variants: 56
Disease: Hamartoma Syndrome, Multiple ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762518389
rs762518389
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.010 GeneticVariation BEFREE Moreover, by functional analysis we found that the ability of PTEN N48K mutant protein to inhibit the activation of the proto-oncogene PKB/Akt was impaired, supporting the involvement of N48K mutation in Cowden disease. 14675182 2003