Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.700 GermlineCausalMutation ORPHANET Finding germline PTEN mutations in patients with BRRS, PS, and PSL suggests equivalent risks of developing malignancy as in CS with implications for medical management. 12938083

2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.700 GermlineCausalMutation ORPHANET Germline mutation of the tumour suppressor PTEN in Proteus syndrome. 12471211

2002
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.700 GermlineCausalMutation ORPHANET Germline PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission. 11476841

2001