Phenotype: Large intestinal polyposis (HP:0030255)
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: 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: 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
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: APC
disease_id: ORPHA:220460
disease_name: Attenuated familial adenomatous polyposis
AFAP
Attenuated FAP
Attenuated familial polyposis coli
gene_symbol: FLCN
disease_id: OMIM:135150
disease_name: BIRT-HOGG-DUBE SYNDROME
gene_symbol: SEC23B
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHB
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHD
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHC
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: USF3
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: KLLN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: KEAP1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: DICER1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: TP53
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: CDKN2A
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: MDM2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: CHEK2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome