Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker CTD_human Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis. 19968660

2010
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker CTD_human Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. 19321504

2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker CTD_human Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800

2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker CTD_human Polydactyly has previously been described in two patients with Lhermitte-Duclos disease and CS and is thus likely to be a rare sign of PTEN mutations. 17427195

2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker CTD_human Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. 14574156

2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker CTD_human PTEN mutation in a family with Cowden syndrome and autism. 11496368

2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 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: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker CTD_human Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease. 11685670

2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker 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
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker 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
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker 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
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker CTD_human Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288

1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker CTD_human Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266

1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker CTD_human Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. 9286463

1997