Human Phenotype Ontology 
Grandparent Node:
expand
Neoplasm of the gastrointestinal tract (HP:0007378)help
Parent Node:
expand
Malignant gastrointestinal tract tumors (HP:0006749)help
..Starting node
..expand
Gastrointestinal carcinoma (HP:0002672)help
Term ID: 2672
Name: Gastrointestinal carcinoma
Synonym: GI carcinoma
Definition:
Comments:
Reference: HP:0002672
Genes and Diseases:
 
       Child Nodes:
........expandHereditary nonpolyposis colorectal carcinoma (HP:0006716) help
........expandAdenocarcinoma of the intestines (HP:0040273) help
................... HP:0040274 Adenocarcinoma of the small intestine
................... HP:0040275 Adenocarcinoma of the large intestine

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002672HP:0002672Gastrointestinal carcinoma0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0002672HP:0002672Gastrointestinal carcinoma0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0002672HP:0002672Gastrointestinal carcinoma0AKT1 CL E G H207391OMIM:114500Colorectal cancer54
HP:0002672HP:0002672Gastrointestinal carcinoma0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0002672HP:0002672Gastrointestinal carcinoma0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0002672HP:0002672Gastrointestinal carcinoma0APC CL E G H324583OMIM:114500Colorectal cancer3179
HP:0002672HP:0002672Gastrointestinal carcinoma0APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040284 - Very rare3179
HP:0002672HP:0002672Gastrointestinal carcinoma0AURKA CL E G H679011393OMIM:114500Colorectal cancer1
HP:0002672HP:0002672Gastrointestinal carcinoma0AXIN2 CL E G H8313904OMIM:114500Colorectal cancer435
HP:0002672HP:0002672Gastrointestinal carcinoma0BAX CL E G H581959OMIM:114500Colorectal cancer4
HP:0002672HP:0002672Gastrointestinal carcinoma0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndrome385
HP:0002672HP:0002672Gastrointestinal carcinoma0BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome385
HP:0002672HP:0002672Gastrointestinal carcinoma0BRAF CL E G H6731097OMIM:114500Colorectal cancer276
HP:0002672HP:0002672Gastrointestinal carcinoma0BUB1 CL E G H6991148OMIM:114500Colorectal cancer5
HP:0002672HP:0002672Gastrointestinal carcinoma0BUB1B CL E G H7011149OMIM:114500Colorectal cancer76
HP:0002672HP:0002672Gastrointestinal carcinoma0CCND1 CL E G H5951582OMIM:114500Colorectal cancer1
HP:0002672HP:0002672Gastrointestinal carcinoma0CHEK2 CL E G H1120016627OMIM:114500Colorectal cancer833
HP:0002672HP:0002672Gastrointestinal carcinoma0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0002672HP:0002672Gastrointestinal carcinoma0CTNNB1 CL E G H14992514OMIM:114500Colorectal cancer88
HP:0002672HP:0002672Gastrointestinal carcinoma0DCC CL E G H16302701OMIM:114500Colorectal cancer36
HP:0002672HP:0002672Gastrointestinal carcinoma0DLC1 CL E G H103952897OMIM:114500Colorectal cancer11
HP:0002672HP:0002672Gastrointestinal carcinoma0EP300 CL E G H20333373OMIM:114500Colorectal cancer250
HP:0002672HP:0002672Gastrointestinal carcinoma0EPCAM CL E G H407211529OMIM:613244Colorectal cancer, hereditary nonpolyposis, type 8170
HP:0002672HP:0002672Gastrointestinal carcinoma0FGFR3 CL E G H22613690OMIM:114500Colorectal cancer145
HP:0002672HP:0002672Gastrointestinal carcinoma0FLCN CL E G H20116327310OMIM:114500Colorectal cancer332
HP:0002672HP:0002672Gastrointestinal carcinoma0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0002672HP:0002672Gastrointestinal carcinoma0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0002672HP:0002672Gastrointestinal carcinoma0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndrome9
HP:0002672HP:0002672Gastrointestinal carcinoma0MCC CL E G H41636935OMIM:114500Colorectal cancer6
HP:0002672HP:0002672Gastrointestinal carcinoma0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0002672HP:0002672Gastrointestinal carcinoma0MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome1819
HP:0002672HP:0002672Gastrointestinal carcinoma0MLH3 CL E G H270307128OMIM:114500Colorectal cancer131
HP:0002672HP:0002672Gastrointestinal carcinoma0MLH3 CL E G H270307128OMIM:614385Colorectal cancer, hereditary nonpolyposis, type 7131
HP:0002672HP:0002672Gastrointestinal carcinoma0MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome2162
HP:0002672HP:0002672Gastrointestinal carcinoma0MSH6 CL E G H29567329OMIM:614350Colorectal cancer, hereditary nonpolyposis, type 52232
HP:0002672HP:0002672Gastrointestinal carcinoma0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0002672HP:0002672Gastrointestinal carcinoma0MUTYH CL E G H45957527ORPHA:247798MUTYH-related attenuated familial adenomatous polyposis592
HP:0002672HP:0002672Gastrointestinal carcinoma0NRAS CL E G H48937989OMIM:114500Colorectal cancer102
HP:0002672HP:0002672Gastrointestinal carcinoma0NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0002672HP:0002672Gastrointestinal carcinoma0NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposis2
HP:0002672HP:0002672Gastrointestinal carcinoma0PDGFRL CL E G H51578805OMIM:114500Colorectal cancer2
HP:0002672HP:0002672Gastrointestinal carcinoma0PIK3CA CL E G H52908975OMIM:114500Colorectal cancer162
HP:0002672HP:0002672Gastrointestinal carcinoma0PLA2G2A CL E G H53209031OMIM:114500Colorectal cancer1
HP:0002672HP:0002672Gastrointestinal carcinoma0PMS2 CL E G H53959122OMIM:614337Colorectal cancer, hereditary nonpolyposis, type 41121
HP:0002672HP:0002672Gastrointestinal carcinoma0POLD1 CL E G H54249175ORPHA:447877Polymerase proofreading-related adenomatous polyposis731
HP:0002672HP:0002672Gastrointestinal carcinoma0POLE CL E G H54269177ORPHA:447877Polymerase proofreading-related adenomatous polyposis1129
HP:0002672HP:0002672Gastrointestinal carcinoma0PTPN12 CL E G H57829645OMIM:114500Colorectal cancer1
HP:0002672HP:0002672Gastrointestinal carcinoma0PTPRJ CL E G H57959673OMIM:114500Colorectal cancer3
HP:0002672HP:0002672Gastrointestinal carcinoma0RAD54B CL E G H2578817228OMIM:114500Colorectal cancer2
HP:0002672HP:0002672Gastrointestinal carcinoma0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0002672HP:0002672Gastrointestinal carcinoma0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0002672HP:0002672Gastrointestinal carcinoma0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0002672HP:0002672Gastrointestinal carcinoma0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0002672HP:0002672Gastrointestinal carcinoma0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0002672Gastrointestinal carcinoma0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0002672HP:0002672Gastrointestinal carcinoma0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0002672HP:0002672Gastrointestinal carcinoma0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0002672HP:0002672Gastrointestinal carcinoma0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0002672HP:0002672Gastrointestinal carcinoma0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0002672HP:0002672Gastrointestinal carcinoma0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0002672HP:0002672Gastrointestinal carcinoma0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0002672HP:0002672Gastrointestinal carcinoma0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0002672HP:0002672Gastrointestinal carcinoma0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0002672Gastrointestinal carcinoma0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0002672HP:0002672Gastrointestinal carcinoma0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0002672HP:0002672Gastrointestinal carcinoma0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0002672Gastrointestinal carcinoma0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0002672Gastrointestinal carcinoma0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0002672HP:0002672Gastrointestinal carcinoma0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0002672HP:0002672Gastrointestinal carcinoma0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0002672HP:0002672Gastrointestinal carcinoma0SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome504
HP:0002672HP:0002672Gastrointestinal carcinoma0SMAD4 CL E G H40896770OMIM:175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome504
HP:0002672HP:0002672Gastrointestinal carcinoma0SRC CL E G H671411283OMIM:114500Colorectal cancer15
HP:0002672HP:0002672Gastrointestinal carcinoma0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040281 - Very frequent740
HP:0002672HP:0002672Gastrointestinal carcinoma0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0002672HP:0002672Gastrointestinal carcinoma0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitis241
HP:0002672HP:0002672Gastrointestinal carcinoma0TGFBR2 CL E G H704811773OMIM:614331COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6253
HP:0002672HP:0002672Gastrointestinal carcinoma0TLR2 CL E G H709711848OMIM:114500Colorectal cancer5
HP:0002672HP:0002672Gastrointestinal carcinoma0TP53 CL E G H715711998OMIM:114500Colorectal cancer911
HP:0002672HP:0002672Gastrointestinal carcinoma0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0002672Gastrointestinal carcinoma0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310
HP:0002672HP:0040273Adenocarcinoma of the intestines1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0002672HP:0040273Adenocarcinoma of the intestines1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1AKT1 CL E G H207391OMIM:114500Colorectal cancer.54
HP:0002672HP:0040273Adenocarcinoma of the intestines1APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0002672HP:0040273Adenocarcinoma of the intestines1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1APC CL E G H324583OMIM:114500Colorectal cancer.3179
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1AURKA CL E G H679011393OMIM:114500Colorectal cancer.1
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1AXIN2 CL E G H8313904OMIM:114500Colorectal cancer.435
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1BAX CL E G H581959OMIM:114500Colorectal cancer.4
HP:0002672HP:0040273Adenocarcinoma of the intestines1BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndrome385
HP:0002672HP:0040273Adenocarcinoma of the intestines1BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome385
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1BRAF CL E G H6731097OMIM:114500Colorectal cancer.276
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1BUB1 CL E G H6991148OMIM:114500Colorectal cancer.5
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1BUB1B CL E G H7011149OMIM:114500Colorectal cancer.76
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1CCND1 CL E G H5951582OMIM:114500Colorectal cancer.1
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1CHEK2 CL E G H1120016627OMIM:114500Colorectal cancer.833
HP:0002672HP:0040273Adenocarcinoma of the intestines1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1CTNNB1 CL E G H14992514OMIM:114500Colorectal cancer.88
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1DCC CL E G H16302701OMIM:114500Colorectal cancer.36
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1DLC1 CL E G H103952897OMIM:114500Colorectal cancer.11
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1EP300 CL E G H20333373OMIM:114500Colorectal cancer.250
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1EPCAM CL E G H407211529OMIM:613244Colorectal cancer, hereditary nonpolyposis, type 8.170
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1FGFR3 CL E G H22613690OMIM:114500Colorectal cancer.145
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1FLCN CL E G H20116327310OMIM:114500Colorectal cancer.332
HP:0002672HP:0040273Adenocarcinoma of the intestines1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0002672HP:0040273Adenocarcinoma of the intestines1GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0002672HP:0040273Adenocarcinoma of the intestines1GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndrome9
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1MCC CL E G H41636935OMIM:114500Colorectal cancer.6
HP:0002672HP:0040273Adenocarcinoma of the intestines1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0002672HP:0040273Adenocarcinoma of the intestines1MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome1819
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1MLH3 CL E G H270307128OMIM:114500Colorectal cancer.131
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1MLH3 CL E G H270307128OMIM:614385Colorectal cancer, hereditary nonpolyposis, type 7.131
HP:0002672HP:0040273Adenocarcinoma of the intestines1MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome2162
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1MSH6 CL E G H29567329OMIM:614350Colorectal cancer, hereditary nonpolyposis, type 5.2232
HP:0002672HP:0040273Adenocarcinoma of the intestines1MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0002672HP:0040273Adenocarcinoma of the intestines1MUTYH CL E G H45957527ORPHA:247798MUTYH-related attenuated familial adenomatous polyposis592
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1NRAS CL E G H48937989OMIM:114500Colorectal cancer.102
HP:0002672HP:0040273Adenocarcinoma of the intestines1NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0002672HP:0040273Adenocarcinoma of the intestines1NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposis2
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1PDGFRL CL E G H51578805OMIM:114500Colorectal cancer.2
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1PIK3CA CL E G H52908975OMIM:114500Colorectal cancer.162
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1PLA2G2A CL E G H53209031OMIM:114500Colorectal cancer.1
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1PMS2 CL E G H53959122OMIM:614337Colorectal cancer, hereditary nonpolyposis, type 4.1121
HP:0002672HP:0040273Adenocarcinoma of the intestines1POLD1 CL E G H54249175ORPHA:447877Polymerase proofreading-related adenomatous polyposis731
HP:0002672HP:0040273Adenocarcinoma of the intestines1POLE CL E G H54269177ORPHA:447877Polymerase proofreading-related adenomatous polyposis1129
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1PTPN12 CL E G H57829645OMIM:114500Colorectal cancer.1
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1PTPRJ CL E G H57959673OMIM:114500Colorectal cancer.3
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1RAD54B CL E G H2578817228OMIM:114500Colorectal cancer.2
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0002672HP:0040273Adenocarcinoma of the intestines1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0002672HP:0040273Adenocarcinoma of the intestines1SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0002672HP:0040273Adenocarcinoma of the intestines1SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome504
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1SRC CL E G H671411283OMIM:114500Colorectal cancer.15
HP:0002672HP:0040273Adenocarcinoma of the intestines1TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitis241
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1TGFBR2 CL E G H704811773OMIM:614331COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6253
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1TLR2 CL E G H709711848OMIM:114500Colorectal cancer.5
HP:0002672HP:0006716Hereditary nonpolyposis colorectal carcinoma1TP53 CL E G H715711998OMIM:114500Colorectal cancer.911
HP:0002672HP:0040273Adenocarcinoma of the intestines1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0040275Adenocarcinoma of the large intestine2AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0002672HP:0040274Adenocarcinoma of the small intestine2AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare7
HP:0002672HP:0040275Adenocarcinoma of the large intestine2ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0002672HP:0040274Adenocarcinoma of the small intestine2APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0002672HP:0040274Adenocarcinoma of the small intestine2APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0002672HP:0040275Adenocarcinoma of the large intestine2BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndrome385
HP:0002672HP:0040274Adenocarcinoma of the small intestine2BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndrome385
HP:0002672HP:0040274Adenocarcinoma of the small intestine2BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome385
HP:0002672HP:0040274Adenocarcinoma of the small intestine2COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare2
HP:0002672HP:0040275Adenocarcinoma of the large intestine2COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0002672HP:0040275Adenocarcinoma of the large intestine2GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0002672HP:0040275Adenocarcinoma of the large intestine2GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0002672HP:0040275Adenocarcinoma of the large intestine2GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndrome9
HP:0002672HP:0040274Adenocarcinoma of the small intestine2GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndrome9
HP:0002672HP:0040275Adenocarcinoma of the large intestine2MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0002672HP:0040274Adenocarcinoma of the small intestine2MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0002672HP:0040274Adenocarcinoma of the small intestine2MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome1819
HP:0002672HP:0040274Adenocarcinoma of the small intestine2MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome2162
HP:0002672HP:0040275Adenocarcinoma of the large intestine2MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0002672HP:0040275Adenocarcinoma of the large intestine2MUTYH CL E G H45957527ORPHA:247798MUTYH-related attenuated familial adenomatous polyposis592
HP:0002672HP:0040274Adenocarcinoma of the small intestine2NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0002672HP:0040274Adenocarcinoma of the small intestine2NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposis2
HP:0002672HP:0040275Adenocarcinoma of the large intestine2POLD1 CL E G H54249175ORPHA:447877Polymerase proofreading-related adenomatous polyposis731
HP:0002672HP:0040275Adenocarcinoma of the large intestine2POLE CL E G H54269177ORPHA:447877Polymerase proofreading-related adenomatous polyposis1129
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0002672HP:0040275Adenocarcinoma of the large intestine2RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0002672HP:0040275Adenocarcinoma of the large intestine2SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0002672HP:0040274Adenocarcinoma of the small intestine2SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome504
HP:0002672HP:0040275Adenocarcinoma of the large intestine2TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0002672HP:0040275Adenocarcinoma of the large intestine2TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0002672HP:0030439Anal canal adenocarcinoma3 CL E G H
HP:0002672HP:0030412Ileal adenocarcinoma3 CL E G H
HP:0002672HP:0030411Jejunal adenocarcinoma3 CL E G H
HP:0002672HP:0040276Adenocarcinoma of the colon3AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare7
HP:0002672HP:0040276Adenocarcinoma of the colon3ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0002672HP:0006771Duodenal adenocarcinoma3APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0002672HP:0006771Duodenal adenocarcinoma3APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0002672HP:0006771Duodenal adenocarcinoma3BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040284 - Very rare385
HP:0002672HP:0040276Adenocarcinoma of the colon3BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040283 - Occasional385
HP:0002672HP:0006771Duodenal adenocarcinoma3BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome385
HP:0002672HP:0040276Adenocarcinoma of the colon3COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare2
HP:0002672HP:0040276Adenocarcinoma of the colon3GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0002672HP:0006771Duodenal adenocarcinoma3GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040284 - Very rare9
HP:0002672HP:0040276Adenocarcinoma of the colon3GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040283 - Occasional9
HP:0002672HP:0040276Adenocarcinoma of the colon3MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0002672HP:0006771Duodenal adenocarcinoma3MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome.1819
HP:0002672HP:0006771Duodenal adenocarcinoma3MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome.2162
HP:0002672HP:0040276Adenocarcinoma of the colon3MUTYH CL E G H45957527ORPHA:247798MUTYH-related attenuated familial adenomatous polyposisHP:0040282 - Frequent592
HP:0002672HP:0006771Duodenal adenocarcinoma3NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0002672HP:0006771Duodenal adenocarcinoma3NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposisHP:0040283 - Occasional2
HP:0002672HP:0040276Adenocarcinoma of the colon3POLD1 CL E G H54249175ORPHA:447877Polymerase proofreading-related adenomatous polyposisHP:0040283 - Occasional731
HP:0002672HP:0040276Adenocarcinoma of the colon3POLE CL E G H54269177ORPHA:447877Polymerase proofreading-related adenomatous polyposisHP:0040283 - Occasional1129
HP:0002672HP:0040276Adenocarcinoma of the colon3RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0002672HP:0040276Adenocarcinoma of the colon3RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0002672HP:0040276Adenocarcinoma of the colon3RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0002672HP:0040276Adenocarcinoma of the colon3RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0002672HP:0040276Adenocarcinoma of the colon3RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0002672HP:0040276Adenocarcinoma of the colon3RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0002672HP:0040276Adenocarcinoma of the colon3RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0002672HP:0040276Adenocarcinoma of the colon3RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0002672HP:0040276Adenocarcinoma of the colon3RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0002672HP:0040276Adenocarcinoma of the colon3RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0002672HP:0040276Adenocarcinoma of the colon3RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0002672HP:0040276Adenocarcinoma of the colon3RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0002672HP:0040276Adenocarcinoma of the colon3RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0002672HP:0040276Adenocarcinoma of the colon3RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0002672HP:0040276Adenocarcinoma of the colon3RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0002672HP:0040276Adenocarcinoma of the colon3RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0002672HP:0040276Adenocarcinoma of the colon3RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0002672HP:0040276Adenocarcinoma of the colon3RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0002672HP:0040276Adenocarcinoma of the colon3RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0002672HP:0040276Adenocarcinoma of the colon3RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0002672HP:0006771Duodenal adenocarcinoma3SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome504
HP:0002672HP:0040276Adenocarcinoma of the colon3TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1


Genes (72) :AAGAB ADA2 AKT1 APC AURKA AXIN2 BAX BMPR1A BRAF BUB1 BUB1B CCND1 CHEK2 COL14A1 CTNNB1 DCC DLC1 EP300 EPCAM FGFR3 FLCN GATA1 GPR35 GREM1 MCC MLH1 MLH3 MSH2 MSH6 MST1 MUTYH NRAS NTHL1 PDGFRL PIK3CA PLA2G2A PMS2 POLD1 POLE PTPN12 PTPRJ RAD54B RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SEMA4D SMAD4 SRC STK11 TCF4 TGFBR2 TLR2 TP53 TSR2 WRN

Diseases (24) :ORPHA:79501 ORPHA:124 OMIM:114500 OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:157794 OMIM:174900 OMIM:613244 ORPHA:171 OMIM:276300 OMIM:158320 OMIM:614385 OMIM:614350 ORPHA:247798 OMIM:616415 ORPHA:454840 OMIM:614337 ORPHA:447877 OMIM:175050 ORPHA:2869 OMIM:175200 OMIM:614331 ORPHA:902
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.