PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Proteus-Like Syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909224
rs121909224
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840 2013
dbSNP: rs121909224
rs121909224
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. 22266152 2012
dbSNP: rs121909224
rs121909224
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		T 0.700 CausalMutation 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
dbSNP: rs121909224
rs121909224
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288 1997