Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0.100 GeneticVariation 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
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0.100 CausalMutation CLINVAR Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. 10353779

1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0.100 CausalMutation CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288

1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0.100 CausalMutation 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
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0.100 CausalMutation CLINVAR Appendectomy, tonsillectomy, and neoplasia. 1097835

1975