Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT The deubiquitinylation and localization of PTEN are regulated by a HAUSP-PML network. 18716620 2008
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Regulation of PTEN phosphorylation and stability by a tumor suppressor candidate protein. 15355975 2004
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography. 11494117 2001
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model. 11230179 2001
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302 2000
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. 9915974 1999
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 10400993 1999
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. 10234502 1999
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. 10051160 1999
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1. 9600246 1998
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Novel mutation of the PTEN gene in an Italian Cowden's disease kindred. 9735393 1998
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Germline PTEN mutations in Cowden syndrome-like families. 9832031 1998
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT The lipid phosphatase activity of PTEN is critical for its tumor supressor function. 9811831 1998
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011 1998
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT PTEN germ-line mutations in juvenile polyposis coli. 9425889 1998
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. 9345101 1997
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266 1997
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288 1997
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396 1997
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 GeneticVariation UNIPROT Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 9399897 1997
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
0.800 CausalMutation CLINVAR