Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 GeneticVariation disease CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation disease CLINVAR PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 22628360 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 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 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. 22266152 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation disease CLINVAR Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome. 16007494 2005
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation disease CLINVAR Appendectomy, tonsillectomy, and neoplasia. 1097835 1975
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation disease CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation disease CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation disease CLINVAR Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 23475934 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 GeneticVariation disease CLINVAR Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals. 22261759 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation disease CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 GeneticVariation disease CLINVAR Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. 24375884 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 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 		0.100 GeneticVariation disease CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation disease 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 		0.100 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 		0.100 CausalMutation disease CLINVAR Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 21956414 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 GeneticVariation disease 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 		0.100 CausalMutation disease CLINVAR The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. 10468583 1999
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 GeneticVariation disease CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 GeneticVariation disease CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 GeneticVariation disease CLINVAR Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. 14566704 2003