Cowden syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Cowden syndrome 201 AKT1 Causal Pathogenic evidence from ClinVar - ClinVar
PIK3CA Causal Pathogenic evidence from ClinVar - ClinVar
PTEN Causal Pathogenic evidence from ClinVar - ClinVar
SEC23B Causal Pathogenic evidence from ClinVar - ClinVar
KLLN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SDHB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SDHC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SDHD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
USF3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COWDEN SYNDROME 6 C3554519 AKT1 Causal Pathogenic evidence from ClinVar 23246288 ClinVar
COWDEN SYNDROME 5 C3554518 PIK3CA Causal Pathogenic evidence from ClinVar 16288007, 23246288 ClinVar
COWDEN SYNDROME 7 C4225179 SEC23B Causal Pathogenic evidence from ClinVar 19561605, 19621418, 20015893, 21252497, 21850656, 25044164, 26522472 ClinVar
COWDEN SYNDROME 4 C3554517 KLLN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -