PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT The deubiquitinylation and localization of PTEN are regulated by a HAUSP-PML network. 18716620 2008
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation BEFREE G129E is a common germline PTEN mutations found in Cowden syndrome patients. 17324556 2007
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Regulation of PTEN phosphorylation and stability by a tumor suppressor candidate protein. 15355975 2004
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 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
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography. 11494117 2001
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302 2000
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 10400993 1999
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. 10051160 1999
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation BEFREE A PTEN mutant associated with Cowden's disease (PTEN;G129E) has protein phosphatase activity yet is defective in dephosphorylating inositol 1,3,4,5-tetrakisphosphate in vitro and fails to arrest cells in G1. 10051603 1999
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. 10234502 1999
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. 9915974 1999
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Germline PTEN mutations in Cowden syndrome-like families. 9832031 1998
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011 1998
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1. 9600246 1998
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT PTEN germ-line mutations in juvenile polyposis coli. 9425889 1998
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Novel mutation of the PTEN gene in an Italian Cowden's disease kindred. 9735393 1998
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Here we report that a missense mutation in PTEN, PTEN-G129E, which is observed in two Cowden disease kindreds, specifically ablates the ability of PTEN to recognize inositol phospholipids as a substrate, suggesting that loss of the lipid phosphatase activity is responsible for the etiology of the disease. 9811831 1998
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396 1997
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 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
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266 1997
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 9399897 1997
dbSNP: rs121909218
rs121909218
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0018553
Disease:
Hamartoma Syndrome, Multiple 		0.820 GeneticVariation UNIPROT Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288 1997