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 GENOMICS_ENGLAND

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.150 CausalMutation CLINVAR

Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.100 CausalMutation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 Biomarker GENOMICS_ENGLAND Multiple hamartoma syndrome (Cowden's disease). 4635800

1972

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 CausalMutation CLINVAR Appendectomy, tonsillectomy, and neoplasia. 1097835

1975

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 CausalMutation CLINVAR Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? 8071972

1994

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 Biomarker CTD_human Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288

1997

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 CausalMutation CLINVAR Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266

1997

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 CausalMutation CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288

1997

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 Biomarker CTD_human Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266

1997

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 GeneticVariation CLINVAR Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266

1997

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 CausalMutation CLINVAR Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. 9288766

1997

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 Biomarker CTD_human 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
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 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: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 GeneticVariation CLINVAR P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. 9256433

1997

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 Biomarker CTD_human Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. 9286463

1997

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 CausalMutation CLINVAR Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396

1997

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.300 Biomarker CTD_human Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682

1997

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 GeneticVariation 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
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 CausalMutation 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
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 CausalMutation CLINVAR PTEN germ-line mutations in juvenile polyposis coli. 9425889

1998

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 CausalMutation CLINVAR Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. 9856571

1998

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
0.800 CausalMutation CLINVAR Novel mutation of the PTEN gene in an Italian Cowden's disease kindred. 9735393

1998

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