Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
0.030 GeneticVariation BEFREE Cowden disease is a genetic disorder associated with a mutation of the PTEN gene and is known to be easily complicated by generalized vascular malformations and malignant tumors. 29636101

2018

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
0.030 GeneticVariation BEFREE We discuss previous reports about vascular malformations in patients with Cowden syndrome and PTEN mutations. 27105569

2016

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
0.030 Biomarker BEFREE Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. 27358095

2016