Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated genes and diseases:
gene_symbol: AXIN2
disease_id: ORPHA:401911
disease_name: AXIN2-related attenuated familial adenomatous polyposis
AXIN2-related AFAP
AXIN2-related attenuated FAP
AXIN2-related attenuated familial polyposis coli
gene_symbol: AXIN2
disease_id: OMIM:608615
disease_name: OLIGODONTIA-COLORECTAL CANCER SYNDROME
gene_symbol: AXIN2
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: APC
disease_id: ORPHA:261584
disease_name: Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
gene_symbol: APC
disease_id: ORPHA:220460
disease_name: Attenuated familial adenomatous polyposis
AFAP
Attenuated FAP
Attenuated familial polyposis coli
gene_symbol: APC
disease_id: OMIM:175100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 1
gene_symbol: APC
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: RNF43
disease_id: ORPHA:157798
disease_name: Serrated polyposis syndrome
Hyperplastic polyposis syndrome
gene_symbol: RNF43
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: GREM1
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
gene_symbol: GREM1
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: BMPR1A
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
gene_symbol: BMPR1A
disease_id: ORPHA:329971
disease_name: Generalized juvenile polyposis/juvenile polyposis coli
gene_symbol: BMPR1A
disease_id: OMIM:610069
disease_name: POLYPOSIS SYNDROME, HEREDITARY MIXED, 2
gene_symbol: BMPR1A
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: BMPR1A
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: NTHL1
disease_id: ORPHA:454840
disease_name: NTHL1-related attenuated familial adenomatous polyposis
NTHL1-related AFAP
NTHL1-related attenuated FAP
gene_symbol: NTHL1
disease_id: OMIM:616415
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 3
gene_symbol: NTHL1
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: PMS2
disease_id: OMIM:619101
disease_name: MISMATCH REPAIR CANCER SYNDROME 4
gene_symbol: PMS2
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: MSH3
disease_id: OMIM:617100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 4
gene_symbol: MSH3
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: MSH3
disease_id: ORPHA:480536
disease_name: MSH3-related attenuated familial adenomatous polyposis
MSH3-related AFAP
MSH3-related attenuated FAP
MSH3-related attenuated familial polyposis coli
gene_symbol: EPCAM
disease_id: OMIM:613244
disease_name: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
gene_symbol: EPCAM
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: MUTYH
disease_id: ORPHA:247798
disease_name: MUTYH-related attenuated familial adenomatous polyposis
MUTYH-related AFAP
MUTYH-related attenuated FAP
MUTYH-related attenuated familial polyposis coli
gene_symbol: MUTYH
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: SMAD4
disease_id: ORPHA:329971
disease_name: Generalized juvenile polyposis/juvenile polyposis coli
gene_symbol: SMAD4
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: ENG
disease_id: ORPHA:329971
disease_name: Generalized juvenile polyposis/juvenile polyposis coli
gene_symbol: MBD4
disease_id: OMIM:619975
disease_name: TUMOR PREDISPOSITION SYNDROME 2
gene_symbol: MBD4
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: PTEN
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: PTEN
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: MLH1
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: MLH1
disease_id: OMIM:276300
disease_name: MISMATCH REPAIR CANCER SYNDROME 1
gene_symbol: MSH6
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: MCM9
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: POLD1
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: POLD1
disease_id: ORPHA:447877
disease_name: Polymerase proofreading-related adenomatous polyposis
PPAP
gene_symbol: TSC2
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: CDH1
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: STK11
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: POLE
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: POLE
disease_id: ORPHA:447877
disease_name: Polymerase proofreading-related adenomatous polyposis
PPAP
gene_symbol: TSC1
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: MSH2
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: MLH3
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: CTNNA1
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2