Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 Biomarker MGD Germ-line mutations of PTEN cause Cowden's syndrome (CS), a multiple hamartoma condition resulting in increased susceptibility for the development of cancer. 10910075

2000

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 Biomarker MGD Mutation of Pten/Mmac1 in mice causes neoplasia in multiple organ systems. 9990064

1999

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 Biomarker MGD These results support the notion that PTEN haploinsufficiency plays a causal role in CD, LDD and BZS pathogenesis, and demonstrate that Pten is a tumour suppressor essential for embryonic development. 9697695

1998

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
1.000 Biomarker MGD PTEN is widely expressed, and Cowden disease consistently affects various organ systems, suggesting that the PTEN protein must have an important, although as yet poorly understood, function in cellular physiology. 9799734

1998