Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN 154 PHTS individuals with a deleterious germline PTEN mutation were recruited from the activity of the Institut Bergonié genetic laboratory. 23335809

2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN A series of 3,399 individuals meeting relaxed International Cowden Consortium PHTS criteria were prospectively recruited; 368 individuals were found to have deleterious germline PTEN mutations. 22252256

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. 20600018

2010
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN Ubiquitination regulates PTEN nuclear import and tumor suppression. 17218261

2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. 15987703

2005
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN PTEN mutations are common in sporadic microsatellite stable colorectal cancer. 14724591

2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.800 Biomarker CLINGEN Pten is essential for embryonic development and tumour suppression. 9697695

1998