Adenomatous polyposis

Disease Term Disease ID Gene Symbol Classification References Source
Adenomatous Polyps C0206677 APC Causal Pathogenic evidence from ClinVar 12810952 ClinVar
DEFA5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15844706 -
APC-related attenuated familial adenomatous polyposis 247806 APC Causal Pathogenic evidence from ClinVar - ClinVar
Familial adenomatous polyposis due to 5q22.2 microdeletion 261584 APC Causal Pathogenic evidence from ClinVar - ClinVar
AXIN2-related attenuated familial adenomatous polyposis 401911 AXIN2 Causal Pathogenic evidence from ClinVar - ClinVar
FAMILIAL ADENOMATOUS POLYPOSIS 4 C4310719 MSH3 Causal Pathogenic evidence from ClinVar 10706084, 27476653 ClinVar
MSH3-related attenuated familial adenomatous polyposis 480536 MSH3 Causal Pathogenic evidence from ClinVar - ClinVar
MUTYH-related attenuated familial adenomatous polyposis 247798 MUTYH Causal Pathogenic evidence from ClinVar - ClinVar
FAMILIAL ADENOMATOUS POLYPOSIS 3 C4225157 NTHL1 Causal Pathogenic evidence from ClinVar 25938944, 26559593, 27329137, 27720914 ClinVar
NTHL1-related attenuated familial adenomatous polyposis 454840 NTHL1 Causal Pathogenic evidence from ClinVar - ClinVar
Polymerase proofreading-related adenomatous polyposis 447877 POLD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POLE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -