Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 Biomarker disease MGD
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 CausalMutation disease CLINVAR Appendectomy, tonsillectomy, and neoplasia. 1097835 1975
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 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 		1.000 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 		1.000 CausalMutation disease CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 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 		1.000 Biomarker disease CTD_human Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 Biomarker disease CTD_human Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. 9286463 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 		1.000 GeneticVariation disease BEFREE A heterozygous frameshift mutation of the PTEN/MMAC1 gene in a patient with Lhermitte-Duclos disease - only the mutated allele was expressed in the cerebellar tumor. 9852626 1998
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 GeneticVariation disease BEFREE A candidate tumour suppressor gene, PTEN, has recently been identified within chromosome 10q23, the locus of the Cowden syndrome/Lhermitte Duclos disease susceptibility gene. 9764804 1998
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. 10468583 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 Biomarker disease CTD_human 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 		1.000 Biomarker disease CTD_human 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 		1.000 GeneticVariation disease BEFREE We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene. 10051160 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 10749983 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 Biomarker disease CTD_human PTEN mutation in a family with Cowden syndrome and autism. 11496368 2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 Biomarker disease CTD_human A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 11748304 2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		1.000 CausalMutation disease CLINVAR Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. 11476841 2001