Tumor predisposition syndrome

Disease Term Disease ID Gene Symbol Classification References Source
TUMOR PREDISPOSITION SYNDROME C3280492 BAP1 Causal Pathogenic evidence from ClinVar 18757409, 21874000, 21874003, 21941004, 21956388, 22545102, 22878500, 23684012, 24243779, 25687217, 25974357, 26119930, 26154183, 26683624, 26719535, 26896281 ClinVar
BRCA2 Causal Pathogenic evidence from ClinVar - ClinVar
MRE11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PALB2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PMS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -