Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 GeneticVariation BEFREE Germline PTEN mutations have been found to occur in 80% of classic Cowden syndrome (CS), 60% of Bannayan-Riley-Ruvalcaba syndrome (BRRS), up to 20% of Proteus syndrome (PS), and approximately 50% of a Proteus-like syndrome (PSL). 12938083

2003

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 GeneticVariation CLINVAR Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. 14566704

2003

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 Biomarker CTD_human Germline mutation of the tumour suppressor PTEN in Proteus syndrome. 12471211

2002

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 Biomarker 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
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 CausalMutation CLINVAR Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. 11476841

2001

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 GermlineCausalMutation ORPHANET 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
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 CausalMutation 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
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 CausalMutation CLINVAR The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. 10468583

1999

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 GeneticVariation 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
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 CausalMutation 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
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 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: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 CausalMutation CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288

1997

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 CausalMutation CLINVAR Appendectomy, tonsillectomy, and neoplasia. 1097835

1975

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
0.740 Biomarker GENOMICS_ENGLAND