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: rs1085308048
rs1085308048
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.010 GeneticVariation BEFREE This report describes a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome. 10193515 1998