Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation CLINVAR