Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of the large intestine (HP:0100834)help
Parent Node:
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Neoplasm of the colon (HP:0100273)help
..Starting node
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Colon cancer (HP:0003003)help
Term ID: 3003
Name: Colon cancer
Synonym: Colon cancer
Definition:
Comments:
Reference: HP:0003003
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAdenocarcinoma of the colon (HP:0040276) help
..expandAdenomatous colonic polyposis (HP:0005227) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003003HP:0003003Colon cancer0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0003003HP:0003003Colon cancer0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040282 - Frequent3179
HP:0003003HP:0003003Colon cancer0APC CL E G H324583OMIM:135290Desmoid disease, hereditary3179
HP:0003003HP:0003003Colon cancer0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040283 - Occasional3179
HP:0003003HP:0003003Colon cancer0APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040282 - Frequent3179
HP:0003003HP:0003003Colon cancer0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040281 - Very frequent3179
HP:0003003HP:0003003Colon cancer0AXIN2 CL E G H8313904ORPHA:401911AXIN2-related attenuated familial adenomatous polyposisHP:0040283 - Occasional435
HP:0003003HP:0003003Colon cancer0AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0003003HP:0003003Colon cancer0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent385
HP:0003003HP:0003003Colon cancer0BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome385
HP:0003003HP:0003003Colon cancer0BMPR1A CL E G H6571076OMIM:610069POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2385
HP:0003003HP:0003003Colon cancer0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional5769
HP:0003003HP:0003003Colon cancer0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional7642
HP:0003003HP:0003003Colon cancer0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0003003HP:0003003Colon cancer0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0003003HP:0003003Colon cancer0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0003003HP:0003003Colon cancer0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional289
HP:0003003HP:0003003Colon cancer0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0003003HP:0003003Colon cancer0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0003003HP:0003003Colon cancer0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0003003HP:0003003Colon cancer0EPCAM CL E G H407211529OMIM:613244Colorectal cancer, hereditary nonpolyposis, type 8170
HP:0003003HP:0003003Colon cancer0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040281 - Very frequent170
HP:0003003HP:0003003Colon cancer0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040281 - Very frequent15
HP:0003003HP:0003003Colon cancer0FLCN CL E G H20116327310OMIM:135150Birt-Hogg-Dube syndrome332
HP:0003003HP:0003003Colon cancer0FOXE1 CL E G H23043806ORPHA:319487Familial papillary or follicular thyroid carcinomaHP:0040283 - Occasional9
HP:0003003HP:0003003Colon cancer0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent9
HP:0003003HP:0003003Colon cancer0HABP2 CL E G H30264798ORPHA:319487Familial papillary or follicular thyroid carcinomaHP:0040283 - Occasional58
HP:0003003HP:0003003Colon cancer0KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional196
HP:0003003HP:0003003Colon cancer0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040281 - Very frequent196
HP:0003003HP:0003003Colon cancer0MBD4 CL E G H89306919OMIM:6199751
HP:0003003HP:0003003Colon cancer0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0003003HP:0003003Colon cancer0MINPP1 CL E G H95627102ORPHA:319487Familial papillary or follicular thyroid carcinomaHP:0040283 - Occasional3
HP:0003003HP:0003003Colon cancer0MLH1 CL E G H42927127OMIM:609310COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC21819
HP:0003003HP:0003003Colon cancer0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040281 - Very frequent1819
HP:0003003HP:0003003Colon cancer0MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome.1819
HP:0003003HP:0003003Colon cancer0MLH1 CL E G H42927127ORPHA:587Muir-Torre syndromeHP:0040282 - Frequent1819
HP:0003003HP:0003003Colon cancer0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040281 - Very frequent131
HP:0003003HP:0003003Colon cancer0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040281 - Very frequent2162
HP:0003003HP:0003003Colon cancer0MSH2 CL E G H44367325OMIM:120435Lynch syndrome I.2162
HP:0003003HP:0003003Colon cancer0MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0003003HP:0003003Colon cancer0MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome.2162
HP:0003003HP:0003003Colon cancer0MSH2 CL E G H44367325ORPHA:587Muir-Torre syndromeHP:0040282 - Frequent2162
HP:0003003HP:0003003Colon cancer0MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040282 - Frequent5
HP:0003003HP:0003003Colon cancer0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040281 - Very frequent2232
HP:0003003HP:0003003Colon cancer0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0003003HP:0003003Colon cancer0MSH6 CL E G H29567329ORPHA:587Muir-Torre syndromeHP:0040282 - Frequent2232
HP:0003003HP:0003003Colon cancer0MUTYH CL E G H45957527OMIM:608456Familial adenomatous polyposis, 2592
HP:0003003HP:0003003Colon cancer0NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0003003HP:0003003Colon cancer0NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposisHP:0040282 - Frequent2
HP:0003003HP:0003003Colon cancer0PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional1349
HP:0003003HP:0003003Colon cancer0PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional192
HP:0003003HP:0003003Colon cancer0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040281 - Very frequent162
HP:0003003HP:0003003Colon cancer0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040281 - Very frequent56
HP:0003003HP:0003003Colon cancer0PMS1 CL E G H53789121OMIM:120435Lynch syndrome I.56
HP:0003003HP:0003003Colon cancer0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040281 - Very frequent1121
HP:0003003HP:0003003Colon cancer0PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0003003HP:0003003Colon cancer0RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional
HP:0003003HP:0003003Colon cancer0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0003003HP:0003003Colon cancer0SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 61.2
HP:0003003HP:0003003Colon cancer0SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional504
HP:0003003HP:0003003Colon cancer0SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome504
HP:0003003HP:0003003Colon cancer0SMAD7 CL E G H40926773OMIM:612229Caudal duplication anomaly1
HP:0003003HP:0003003Colon cancer0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040281 - Very frequent253
HP:0003003HP:0003003Colon cancer0TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional911
HP:0003003HP:0003003Colon cancer0TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome.911
HP:0003003HP:0003003Colon cancer0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0003003HP:0003003Colon cancer0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2


Genes (41) :APC AXIN2 BMPR1A BRCA1 BRCA2 BUB1 BUB1B BUB3 CDKN2A CEP57 CHEK2 EPCAM FAN1 FLCN FOXE1 GREM1 HABP2 KRAS MBD4 MDM2 MINPP1 MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH NTHL1 PALB2 PALLD PIK3CA PMS1 PMS2 RABL3 RPS19 SH3KBP1 SMAD4 SMAD7 TGFBR2 TP53 TRIP13

Diseases (34) :OMIM:175100 ORPHA:247806 OMIM:135290 ORPHA:261584 ORPHA:79665 ORPHA:99818 ORPHA:401911 OMIM:608615 ORPHA:157794 OMIM:174900 OMIM:610069 ORPHA:1333 ORPHA:1052 ORPHA:524 OMIM:613244 ORPHA:144 OMIM:135150 ORPHA:319487 OMIM:619975 OMIM:609310 OMIM:158320 ORPHA:587 OMIM:120435 OMIM:619096 ORPHA:480536 OMIM:619097 OMIM:608456 OMIM:616415 ORPHA:454840 OMIM:619101 OMIM:105650 OMIM:300310 OMIM:612229 OMIM:151623
 

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