Phenotype: Neoplasm of the colon (HP:0100273)
Associated genes and diseases:
gene_symbol: MLH1
disease_id: OMIM:158320
disease_name: MUIR-TORRE SYNDROME
gene_symbol: MLH1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MLH1
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: MLH1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MLH1
disease_id: OMIM:609310
disease_name: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
gene_symbol: MSH2
disease_id: OMIM:158320
disease_name: MUIR-TORRE SYNDROME
gene_symbol: MSH2
disease_id: OMIM:619096
disease_name: MISMATCH REPAIR CANCER SYNDROME 2
gene_symbol: MSH2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MSH2
disease_id: OMIM:120435
disease_name: LYNCH SYNDROME I
gene_symbol: MSH2
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: MSH2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH6
disease_id: OMIM:619097
disease_name: MISMATCH REPAIR CANCER SYNDROME 3
gene_symbol: MSH6
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MSH6
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: MSH6
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
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:174900
disease_name: JUVENILE POLYPOSIS 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: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
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: APC
disease_id: OMIM:135290
disease_name: DESMOID DISEASE, HEREDITARY
gene_symbol: C1S
disease_id: OMIM:617174
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
gene_symbol: PMS2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: PMS2
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: PMS2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS2
disease_id: OMIM:619101
disease_name: MISMATCH REPAIR CANCER SYNDROME 4
gene_symbol: MSH3
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
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: NTHL1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
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:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: NTHL1
disease_id: OMIM:616415
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 3
gene_symbol: MCM9
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MCM9
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: TSC2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: TSC2
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: CDH1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: CDH1
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: MBD4
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
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: TSC1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: TSC1
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: GREM1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
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: EPCAM
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: EPCAM
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: EPCAM
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: EPCAM
disease_id: OMIM:613244
disease_name: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
gene_symbol: MLH3
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MLH3
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: CTNNA1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: CTNNA1
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: PTEN
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: PTEN
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: SMAD4
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: SMAD4
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: SMAD4
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: RNF43
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: RNF43
disease_id: OMIM:608456
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 2
gene_symbol: TP53
disease_id: OMIM:151623
disease_name: LI-FRAUMENI SYNDROME
gene_symbol: TP53
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: TP53
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PMS1
disease_id: OMIM:120435
disease_name: LYNCH SYNDROME I
gene_symbol: PMS1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: SMAD7
disease_id: OMIM:612229
disease_name: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: CDKN2A
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: CDKN2A
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: MDM2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: TGFBR2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: KRAS
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: KRAS
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PIK3CA
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: FLCN
disease_id: OMIM:135150
disease_name: BIRT-HOGG-DUBE SYNDROME
gene_symbol: BUB3
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: BUB1
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: CEP57
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: TRIP13
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: BUB1B
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: BRCA1
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: RABL3
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PALB2
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PALLD
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: FOXE1
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
gene_symbol: HABP2
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
gene_symbol: MINPP1
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
gene_symbol: ENG
disease_id: ORPHA:329971
disease_name: Generalized juvenile polyposis/juvenile polyposis coli
gene_symbol: RPL15
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL8
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HEATR3
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL31
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS7
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS28
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL11
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS24
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL5
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS10
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: GATA1
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL9
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS17
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS15A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: TSR2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL18
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS29
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: ADA2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: MAD1L1
disease_id: OMIM:620189
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
gene_symbol: COL14A1
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
gene_symbol: AAGAB
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
gene_symbol: SEMA4A
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: ATM
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: NPAT
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: POLE
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: BRCA2
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: BMPR1A
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: RPS20
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: MUTYH
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: POLD1
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: CHEK2
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: STK11
disease_id: ORPHA:2869
disease_name: Peutz-Jeghers syndrome
Hamartomatous intestinal polyposis
PJS
gene_symbol: SDHA
disease_id: ORPHA:44890
disease_name: Gastrointestinal stromal tumor
GIST
Gastrointestinal stromal sarcoma
gene_symbol: SDHB
disease_id: ORPHA:44890
disease_name: Gastrointestinal stromal tumor
GIST
Gastrointestinal stromal sarcoma
gene_symbol: SDHC
disease_id: ORPHA:44890
disease_name: Gastrointestinal stromal tumor
GIST
Gastrointestinal stromal sarcoma
gene_symbol: PDGFRA
disease_id: ORPHA:44890
disease_name: Gastrointestinal stromal tumor
GIST
Gastrointestinal stromal sarcoma
gene_symbol: KIT
disease_id: ORPHA:44890
disease_name: Gastrointestinal stromal tumor
GIST
Gastrointestinal stromal sarcoma