Gene: PTEN ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 9399897 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. 9288766 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 9399897 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease. 9797362 1998
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011 1998
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR PTEN germ-line mutations in juvenile polyposis coli. 9425889 1998
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011 1998
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. 9915974 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). 10076877 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. 10468583 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Identification of PTEN mutations in five families with Bannayan-Zonana syndrome. 10232405 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Identification of PTEN mutations in five families with Bannayan-Zonana syndrome. 10232405 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 10400993 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome. 11071384 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers. 10807691 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR A novel PTEN mutation in a Japanese patient with Cowden disease. 10848731 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Phosphorylation of the PTEN tail regulates protein stability and function. 10866658 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease. 10920277 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Stabilization and productive positioning roles of the C2 domain of PTEN tumor suppressor. 11156408 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302 2000