Disease Term Disease ID Gene Symbol Classification References Source
Proteus syndrome 744 AKT1 Causal Pathogenic evidence from ClinVar - ClinVar
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Proteus Syndrome C0085261 AKT1 Causal Pathogenic evidence from ClinVar 18954143, 21793738, 23246288 ClinVar
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11476841, 11748304, 12471211, 12938083, 17286265, 17427195 -