Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal large intestine morphology (HP:0002250)

Grandparent Node:
Neoplasm of the gastrointestinal tract (HP:0007378)

Parent Node:
Neoplasm of the large intestine (HP:0100834)

..Starting node
..Neoplasm of the colon (HP:0100273)

Term ID:

100273

Name:

Neoplasm of the colon

Synonym:

Colon tumor; Colon tumour

Definition:

Comments:

Reference:

HP:0100273

Genes and Diseases:

Child Nodes:

........

Colon cancer (HP:0003003)

........

Adenomatous colonic polyposis (HP:0005227)

........

Adenocarcinoma of the colon (HP:0040276)

Sister Nodes:

Adenocarcinoma of the large intestine (HP:0040275)

Anal canal neoplasm (HP:0030437)

Hereditary nonpolyposis colorectal carcinoma (HP:0006716)

Neoplasm of the rectum (HP:0100743)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100273	HP:0100273	Neoplasm of the colon	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0100273	HP:0100273	Neoplasm of the colon	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100273	HP:0100273	Neoplasm of the colon	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100273	HP:0100273	Neoplasm of the colon	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100273	HP:0100273	Neoplasm of the colon	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0100273	HP:0100273	Neoplasm of the colon	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0100273	HP:0100273	Neoplasm of the colon	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100273	HP:0100273	Neoplasm of the colon	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0100273	HP:0100273	Neoplasm of the colon	0	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis		435
HP:0100273	HP:0100273	Neoplasm of the colon	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0100273	HP:0100273	Neoplasm of the colon	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0100273	HP:0100273	Neoplasm of the colon	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0100273	HP:0100273	Neoplasm of the colon	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		385
HP:0100273	HP:0100273	Neoplasm of the colon	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0100273	HP:0100273	Neoplasm of the colon	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0100273	HP:0100273	Neoplasm of the colon	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0100273	HP:0100273	Neoplasm of the colon	0	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0100273	HP:0100273	Neoplasm of the colon	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma		5769
HP:0100273	HP:0100273	Neoplasm of the colon	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma		7642
HP:0100273	HP:0100273	Neoplasm of the colon	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0100273	HP:0100273	Neoplasm of the colon	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0100273	HP:0100273	Neoplasm of the colon	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0100273	HP:0100273	Neoplasm of the colon	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma		289
HP:0100273	HP:0100273	Neoplasm of the colon	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100273	HP:0100273	Neoplasm of the colon	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0100273	HP:0100273	Neoplasm of the colon	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100273	HP:0100273	Neoplasm of the colon	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0100273	HP:0100273	Neoplasm of the colon	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		186
HP:0100273	HP:0100273	Neoplasm of the colon	0	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0100273	HP:0100273	Neoplasm of the colon	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0100273	HP:0100273	Neoplasm of the colon	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0100273	HP:0100273	Neoplasm of the colon	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0100273	HP:0100273	Neoplasm of the colon	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		9
HP:0100273	HP:0100273	Neoplasm of the colon	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0100273	HP:0100273	Neoplasm of the colon	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0100273	HP:0100273	Neoplasm of the colon	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		58
HP:0100273	HP:0100273	Neoplasm of the colon	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	327
HP:0100273	HP:0100273	Neoplasm of the colon	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma		196
HP:0100273	HP:0100273	Neoplasm of the colon	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0100273	HP:0100273	Neoplasm of the colon	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0100273	HP:0100273	Neoplasm of the colon	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100273	HP:0100273	Neoplasm of the colon	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		3
HP:0100273	HP:0100273	Neoplasm of the colon	0	MLH1 CL E G H	4292	7127	OMIM:609310	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2		1819
HP:0100273	HP:0100273	Neoplasm of the colon	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0100273	HP:0100273	Neoplasm of the colon	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100273	HP:0100273	Neoplasm of the colon	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0100273	HP:0100273	Neoplasm of the colon	0	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome		1819
HP:0100273	HP:0100273	Neoplasm of the colon	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0100273	HP:0100273	Neoplasm of the colon	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0100273	HP:0100273	Neoplasm of the colon	0	MSH2 CL E G H	4436	7325	OMIM:120435	Lynch syndrome I		2162
HP:0100273	HP:0100273	Neoplasm of the colon	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0100273	HP:0100273	Neoplasm of the colon	0	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome		2162
HP:0100273	HP:0100273	Neoplasm of the colon	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0100273	HP:0100273	Neoplasm of the colon	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0100273	HP:0100273	Neoplasm of the colon	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0100273	HP:0100273	Neoplasm of the colon	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0100273	HP:0100273	Neoplasm of the colon	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100273	HP:0100273	Neoplasm of the colon	0	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome		2232
HP:0100273	HP:0100273	Neoplasm of the colon	0	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2		592
HP:0100273	HP:0100273	Neoplasm of the colon	0	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0100273	HP:0100273	Neoplasm of the colon	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0100273	HP:0100273	Neoplasm of the colon	0	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0100273	HP:0100273	Neoplasm of the colon	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma		1349
HP:0100273	HP:0100273	Neoplasm of the colon	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma		192
HP:0100273	HP:0100273	Neoplasm of the colon	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	337
HP:0100273	HP:0100273	Neoplasm of the colon	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0100273	HP:0100273	Neoplasm of the colon	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0100273	HP:0100273	Neoplasm of the colon	0	PMS1 CL E G H	5378	9121	OMIM:120435	Lynch syndrome I		56
HP:0100273	HP:0100273	Neoplasm of the colon	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0100273	HP:0100273	Neoplasm of the colon	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100273	HP:0100273	Neoplasm of the colon	0	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0100273	HP:0100273	Neoplasm of the colon	0	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0100273	HP:0100273	Neoplasm of the colon	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0100273	HP:0100273	Neoplasm of the colon	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0100273	HP:0100273	Neoplasm of the colon	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome		5
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100273	HP:0100273	Neoplasm of the colon	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0100273	HP:0100273	Neoplasm of the colon	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	304
HP:0100273	HP:0100273	Neoplasm of the colon	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	237
HP:0100273	HP:0100273	Neoplasm of the colon	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	147
HP:0100273	HP:0100273	Neoplasm of the colon	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0100273	HP:0100273	Neoplasm of the colon	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0100273	HP:0100273	Neoplasm of the colon	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma		504
HP:0100273	HP:0100273	Neoplasm of the colon	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		504
HP:0100273	HP:0100273	Neoplasm of the colon	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0100273	HP:0100273	Neoplasm of the colon	0	SMAD7 CL E G H	4092	6773	OMIM:612229	Caudal duplication anomaly		1
HP:0100273	HP:0100273	Neoplasm of the colon	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0100273	HP:0100273	Neoplasm of the colon	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0100273	HP:0100273	Neoplasm of the colon	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma		911
HP:0100273	HP:0100273	Neoplasm of the colon	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0100273	HP:0100273	Neoplasm of the colon	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100273	HP:0100273	Neoplasm of the colon	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0100273	HP:0100273	Neoplasm of the colon	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	7
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100273	HP:0003003	Colon cancer	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100273	HP:0003003	Colon cancer	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	3179
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	3179
HP:0100273	HP:0003003	Colon cancer	1	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0100273	HP:0003003	Colon cancer	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional	3179
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040281 - Very frequent	3179
HP:0100273	HP:0003003	Colon cancer	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040282 - Frequent	3179
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040281 - Very frequent	3179
HP:0100273	HP:0003003	Colon cancer	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040281 - Very frequent	3179
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040281 - Very frequent	3179
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	435
HP:0100273	HP:0003003	Colon cancer	1	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis	HP:0040283 - Occasional	435
HP:0100273	HP:0003003	Colon cancer	1	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	385
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	385
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0100273	HP:0003003	Colon cancer	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040280 - Obligate	385
HP:0100273	HP:0003003	Colon cancer	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0100273	HP:0003003	Colon cancer	1	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0100273	HP:0003003	Colon cancer	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	5769
HP:0100273	HP:0003003	Colon cancer	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	7642
HP:0100273	HP:0003003	Colon cancer	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0100273	HP:0003003	Colon cancer	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0100273	HP:0003003	Colon cancer	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0100273	HP:0003003	Colon cancer	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	289
HP:0100273	HP:0003003	Colon cancer	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0100273	HP:0003003	Colon cancer	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0100273	HP:0003003	Colon cancer	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	2
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	186
HP:0100273	HP:0003003	Colon cancer	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0100273	HP:0003003	Colon cancer	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	170
HP:0100273	HP:0003003	Colon cancer	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	15
HP:0100273	HP:0003003	Colon cancer	1	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0100273	HP:0003003	Colon cancer	1	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	9
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0100273	HP:0003003	Colon cancer	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	9
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0100273	HP:0003003	Colon cancer	1	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	58
HP:0100273	HP:0003003	Colon cancer	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	196
HP:0100273	HP:0003003	Colon cancer	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	196
HP:0100273	HP:0003003	Colon cancer	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0100273	HP:0003003	Colon cancer	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0100273	HP:0003003	Colon cancer	1	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	3
HP:0100273	HP:0003003	Colon cancer	1	MLH1 CL E G H	4292	7127	OMIM:609310	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2		1819
HP:0100273	HP:0003003	Colon cancer	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1819
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100273	HP:0003003	Colon cancer	1	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040282 - Frequent	1819
HP:0100273	HP:0003003	Colon cancer	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0100273	HP:0003003	Colon cancer	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	131
HP:0100273	HP:0003003	Colon cancer	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2162
HP:0100273	HP:0003003	Colon cancer	1	MSH2 CL E G H	4436	7325	OMIM:120435	Lynch syndrome I	.	2162
HP:0100273	HP:0003003	Colon cancer	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0100273	HP:0003003	Colon cancer	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162
HP:0100273	HP:0003003	Colon cancer	1	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040282 - Frequent	2162
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0100273	HP:0003003	Colon cancer	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	5
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	5
HP:0100273	HP:0003003	Colon cancer	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2232
HP:0100273	HP:0003003	Colon cancer	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100273	HP:0003003	Colon cancer	1	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040282 - Frequent	2232
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2	.	592
HP:0100273	HP:0003003	Colon cancer	1	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2		592
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0100273	HP:0003003	Colon cancer	1	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0100273	HP:0003003	Colon cancer	1	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	2
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	2
HP:0100273	HP:0003003	Colon cancer	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	1349
HP:0100273	HP:0003003	Colon cancer	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	192
HP:0100273	HP:0003003	Colon cancer	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	162
HP:0100273	HP:0003003	Colon cancer	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	56
HP:0100273	HP:0003003	Colon cancer	1	PMS1 CL E G H	5378	9121	OMIM:120435	Lynch syndrome I	.	56
HP:0100273	HP:0003003	Colon cancer	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1121
HP:0100273	HP:0003003	Colon cancer	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	731
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	731
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	1129
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	1129
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040280 - Obligate	948
HP:0100273	HP:0003003	Colon cancer	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040282 - Frequent	5
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0100273	HP:0003003	Colon cancer	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0100273	HP:0003003	Colon cancer	1	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0100273	HP:0003003	Colon cancer	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	504
HP:0100273	HP:0005227	Adenomatous colonic polyposis	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	504
HP:0100273	HP:0003003	Colon cancer	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0100273	HP:0003003	Colon cancer	1	SMAD7 CL E G H	4092	6773	OMIM:612229	Caudal duplication anomaly		1
HP:0100273	HP:0003003	Colon cancer	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	253
HP:0100273	HP:0003003	Colon cancer	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	911
HP:0100273	HP:0003003	Colon cancer	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0100273	HP:0003003	Colon cancer	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0100273	HP:0003003	Colon cancer	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0100273	HP:0040276	Adenocarcinoma of the colon	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1

Genes (78) :AAGAB ADA2 APC AXIN2 BLM BMPR1A BRCA1 BRCA2 BUB1 BUB1B BUB3 CDKN2A CEP57 CHEK2 COL14A1 ENG EPCAM FAN1 FLCN FOXE1 GATA1 GREM1 HABP2 KIT KRAS MBD4 MDM2 MINPP1 MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH NTHL1 PALB2 PALLD PDGFRA PIK3CA PMS1 PMS2 POLD1 POLE PTEN RABL3 RNF43 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SDHA SDHB SDHC SEMA4A SH3KBP1 SMAD4 SMAD7 STK11 TGFBR2 TP53 TRIP13 TSR2

Diseases (47) :ORPHA:79501 ORPHA:124 OMIM:175100 ORPHA:247806 OMIM:135290 ORPHA:261584 ORPHA:79665 ORPHA:99818 ORPHA:401911 OMIM:608615 ORPHA:125 ORPHA:440437 ORPHA:329971 ORPHA:157794 ORPHA:79076 OMIM:174900 OMIM:610069 ORPHA:1333 ORPHA:1052 ORPHA:524 OMIM:613244 ORPHA:144 OMIM:135150 ORPHA:319487 ORPHA:44890 OMIM:619975 OMIM:609310 OMIM:276300 OMIM:158320 ORPHA:587 OMIM:120435 OMIM:619096 OMIM:617100 ORPHA:480536 OMIM:619097 OMIM:608456 ORPHA:247798 OMIM:616415 ORPHA:454840 OMIM:619101 ORPHA:447877 ORPHA:157798 OMIM:105650 OMIM:300310 OMIM:612229 ORPHA:2869 OMIM:151623

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

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