Gene: PTEN ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 CausalMutation disease CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 CausalMutation disease CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 CausalMutation disease CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 Biomarker disease BEFREE The clinical findings were consistent with the diagnosis of VACTERL-H. Molecular analysis of PTEN, FANCB, and HOXD13 genes revealed no mutation. 24411047 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 CausalMutation disease CLINVAR PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 22628360 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 Biomarker disease GENOMICS_ENGLAND Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 CausalMutation disease CLINVAR 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 		0.610 Biomarker disease GENOMICS_ENGLAND 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 		0.610 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 		0.610 Biomarker disease GENOMICS_ENGLAND Multiple hamartoma syndrome (Cowden's disease). 4635800 1972
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 GeneticVariation disease CLINVAR