Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.150 CausalMutation disease CLINVAR
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease GENOMICS_ENGLAND Multiple hamartoma syndrome (Cowden's disease). 4635800 1972
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Appendectomy, tonsillectomy, and neoplasia. 1097835 1975
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease 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 		0.800 Biomarker disease CTD_human Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease CTD_human Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease CLINVAR Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. 9288766 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease 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 		0.800 CausalMutation disease 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 		0.800 GeneticVariation disease CLINVAR P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. 9256433 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease 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 		0.800 CausalMutation disease 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 		0.300 Biomarker disease CTD_human Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease 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 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR PTEN germ-line mutations in juvenile polyposis coli. 9425889 1998
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. 9856571 1998
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Novel mutation of the PTEN gene in an Italian Cowden's disease kindred. 9735393 1998
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 Biomarker disease CLINGEN Pten is essential for embryonic development and tumour suppression. 9697695 1998
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1. 9600246 1998