Human Phenotype Ontology

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:0100834	HP:0100834	Neoplasm of the large intestine	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer		54
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	APC CL E G H	324	583	OMIM:114500	Colorectal cancer		3179
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis		435
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer		435
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer		4
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X		385
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		385
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer		276
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma		5769
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma		7642
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer		5
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer		76
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma		289
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer		833
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer		88
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer		36
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer		11
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		186
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer		250
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer		145
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer		332
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		9
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		58
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor		327
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma		196
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer		6
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		3
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MLH1 CL E G H	4292	7127	OMIM:609310	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2		1819
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome		1819
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer		131
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MLH3 CL E G H	27030	7128	OMIM:614385	Colorectal cancer, hereditary nonpolyposis, type 7		131
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MSH2 CL E G H	4436	7325	OMIM:120435	Lynch syndrome I		2162
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome		2162
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5		2232
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome		2232
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2		592
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer		102
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma		1349
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma		192
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor		337
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer		2
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer		162
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PMS1 CL E G H	5378	9121	OMIM:120435	Lynch syndrome I		56
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PMS2 CL E G H	5395	9122	OMIM:614337	Colorectal cancer, hereditary nonpolyposis, type 4		1121
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10		731
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12		1129
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer		3
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer		2
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040283 - Occasional	5
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor		304
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor		237
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor		147
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X		48
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma		504
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		504
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SMAD7 CL E G H	4092	6773	OMIM:612229	Caudal duplication anomaly		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer		15
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	TGFBR2 CL E G H	7048	11773	OMIM:614331	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6		253
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer		5
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer		911
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma		911
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0100834	Neoplasm of the large intestine	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0100834	HP:0100273	Neoplasm of the colon	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100834	HP:0100273	Neoplasm of the colon	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer	.	54
HP:0100834	HP:0100743	Neoplasm of the rectum	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0100834	HP:0100273	Neoplasm of the colon	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100834	HP:0100273	Neoplasm of the colon	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	APC CL E G H	324	583	OMIM:114500	Colorectal cancer	.	3179
HP:0100834	HP:0100743	Neoplasm of the rectum	1	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0100834	HP:0100273	Neoplasm of the colon	1	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0100834	HP:0100273	Neoplasm of the colon	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0100834	HP:0100273	Neoplasm of the colon	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100834	HP:0100273	Neoplasm of the colon	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer	.	1
HP:0100834	HP:0100743	Neoplasm of the rectum	1	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis	HP:0040283 - Occasional	435
HP:0100834	HP:0100273	Neoplasm of the colon	1	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis		435
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer	.	435
HP:0100834	HP:0100273	Neoplasm of the colon	1	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer	.	4
HP:0100834	HP:0100273	Neoplasm of the colon	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0100834	HP:0100273	Neoplasm of the colon	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0100834	HP:0100743	Neoplasm of the rectum	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	385
HP:0100834	HP:0100743	Neoplasm of the rectum	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		385
HP:0100834	HP:0100273	Neoplasm of the colon	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		385
HP:0100834	HP:0100743	Neoplasm of the rectum	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	385
HP:0100834	HP:0100273	Neoplasm of the colon	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0100834	HP:0100273	Neoplasm of the colon	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0100834	HP:0100273	Neoplasm of the colon	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0100834	HP:0100273	Neoplasm of the colon	1	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer	.	276
HP:0100834	HP:0100273	Neoplasm of the colon	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma		5769
HP:0100834	HP:0100273	Neoplasm of the colon	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma		7642
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer	.	5
HP:0100834	HP:0100273	Neoplasm of the colon	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer	.	76
HP:0100834	HP:0100273	Neoplasm of the colon	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0100834	HP:0100273	Neoplasm of the colon	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer	.	1
HP:0100834	HP:0100273	Neoplasm of the colon	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma		289
HP:0100834	HP:0100273	Neoplasm of the colon	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100834	HP:0100743	Neoplasm of the rectum	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0100834	HP:0100273	Neoplasm of the colon	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer	.	833
HP:0100834	HP:0100743	Neoplasm of the rectum	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0100834	HP:0100273	Neoplasm of the colon	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100834	HP:0100273	Neoplasm of the colon	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer	.	88
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer	.	36
HP:0100834	HP:0100743	Neoplasm of the rectum	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer	.	11
HP:0100834	HP:0030437	Anal canal neoplasm	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0100834	HP:0100743	Neoplasm of the rectum	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		186
HP:0100834	HP:0100273	Neoplasm of the colon	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		186
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer	.	250
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8	.	170
HP:0100834	HP:0100273	Neoplasm of the colon	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0100834	HP:0100273	Neoplasm of the colon	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0100834	HP:0100743	Neoplasm of the rectum	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	170
HP:0100834	HP:0100743	Neoplasm of the rectum	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	15
HP:0100834	HP:0100273	Neoplasm of the colon	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer	.	145
HP:0100834	HP:0100273	Neoplasm of the colon	1	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer	.	332
HP:0100834	HP:0100273	Neoplasm of the colon	1	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		9
HP:0100834	HP:0100273	Neoplasm of the colon	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0100834	HP:0100273	Neoplasm of the colon	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0100834	HP:0100743	Neoplasm of the rectum	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	9
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0100834	HP:0100273	Neoplasm of the colon	1	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		58
HP:0100834	HP:0100743	Neoplasm of the rectum	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0100834	HP:0100273	Neoplasm of the colon	1	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	327
HP:0100834	HP:0100743	Neoplasm of the rectum	1	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	327
HP:0100834	HP:0100743	Neoplasm of the rectum	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0100834	HP:0100273	Neoplasm of the colon	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma		196
HP:0100834	HP:0100743	Neoplasm of the rectum	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	196
HP:0100834	HP:0100273	Neoplasm of the colon	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0100834	HP:0100273	Neoplasm of the colon	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer	.	6
HP:0100834	HP:0100273	Neoplasm of the colon	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100834	HP:0100743	Neoplasm of the rectum	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0100834	HP:0100273	Neoplasm of the colon	1	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		3
HP:0100834	HP:0100273	Neoplasm of the colon	1	MLH1 CL E G H	4292	7127	OMIM:609310	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2		1819
HP:0100834	HP:0100743	Neoplasm of the rectum	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1819
HP:0100834	HP:0100273	Neoplasm of the colon	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100834	HP:0100273	Neoplasm of the colon	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100834	HP:0100273	Neoplasm of the colon	1	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome		1819
HP:0100834	HP:0100273	Neoplasm of the colon	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer	.	131
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	MLH3 CL E G H	27030	7128	OMIM:614385	Colorectal cancer, hereditary nonpolyposis, type 7	.	131
HP:0100834	HP:0100743	Neoplasm of the rectum	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	131
HP:0100834	HP:0100273	Neoplasm of the colon	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0100834	HP:0100743	Neoplasm of the rectum	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2162
HP:0100834	HP:0100273	Neoplasm of the colon	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0100834	HP:0100273	Neoplasm of the colon	1	MSH2 CL E G H	4436	7325	OMIM:120435	Lynch syndrome I		2162
HP:0100834	HP:0100273	Neoplasm of the colon	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0100834	HP:0100273	Neoplasm of the colon	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0100834	HP:0100273	Neoplasm of the colon	1	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome		2162
HP:0100834	HP:0100273	Neoplasm of the colon	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0100834	HP:0100743	Neoplasm of the rectum	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	5
HP:0100834	HP:0100273	Neoplasm of the colon	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5	.	2232
HP:0100834	HP:0100743	Neoplasm of the rectum	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	2232
HP:0100834	HP:0100273	Neoplasm of the colon	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0100834	HP:0100273	Neoplasm of the colon	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100834	HP:0100743	Neoplasm of the rectum	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100834	HP:0100273	Neoplasm of the colon	1	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome		2232
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0100834	HP:0100273	Neoplasm of the colon	1	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2		592
HP:0100834	HP:0100743	Neoplasm of the rectum	1	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0100834	HP:0100273	Neoplasm of the colon	1	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer	.	102
HP:0100834	HP:0100273	Neoplasm of the colon	1	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0100834	HP:0100273	Neoplasm of the colon	1	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0100834	HP:0100743	Neoplasm of the rectum	1	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	2
HP:0100834	HP:0100273	Neoplasm of the colon	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma		1349
HP:0100834	HP:0100273	Neoplasm of the colon	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma		192
HP:0100834	HP:0100743	Neoplasm of the rectum	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100834	HP:0100273	Neoplasm of the colon	1	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	337
HP:0100834	HP:0100743	Neoplasm of the rectum	1	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	337
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer	.	2
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer	.	162
HP:0100834	HP:0100743	Neoplasm of the rectum	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0100834	HP:0100743	Neoplasm of the rectum	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	162
HP:0100834	HP:0100273	Neoplasm of the colon	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer	.	1
HP:0100834	HP:0100743	Neoplasm of the rectum	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	56
HP:0100834	HP:0100273	Neoplasm of the colon	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0100834	HP:0100273	Neoplasm of the colon	1	PMS1 CL E G H	5378	9121	OMIM:120435	Lynch syndrome I		56
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	PMS2 CL E G H	5395	9122	OMIM:614337	Colorectal cancer, hereditary nonpolyposis, type 4	.	1121
HP:0100834	HP:0100743	Neoplasm of the rectum	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	1121
HP:0100834	HP:0100273	Neoplasm of the colon	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0100834	HP:0100273	Neoplasm of the colon	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100834	HP:0100743	Neoplasm of the rectum	1	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10		731
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0100834	HP:0100743	Neoplasm of the rectum	1	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	731
HP:0100834	HP:0100273	Neoplasm of the colon	1	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0100834	HP:0100743	Neoplasm of the rectum	1	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12		1129
HP:0100834	HP:0100743	Neoplasm of the rectum	1	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	1129
HP:0100834	HP:0100273	Neoplasm of the colon	1	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0100834	HP:0100743	Neoplasm of the rectum	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100834	HP:0100743	Neoplasm of the rectum	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0100834	HP:0100273	Neoplasm of the colon	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer	.	1
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer	.	3
HP:0100834	HP:0100273	Neoplasm of the colon	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer	.	2
HP:0100834	HP:0100273	Neoplasm of the colon	1	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome		5
HP:0100834	HP:0100743	Neoplasm of the rectum	1	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome		5
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0100834	HP:0100743	Neoplasm of the rectum	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	1
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0100834	HP:0100273	Neoplasm of the colon	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0100834	HP:0100273	Neoplasm of the colon	1	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	304
HP:0100834	HP:0100743	Neoplasm of the rectum	1	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	304
HP:0100834	HP:0100743	Neoplasm of the rectum	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0100834	HP:0100273	Neoplasm of the colon	1	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	237
HP:0100834	HP:0100743	Neoplasm of the rectum	1	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	237
HP:0100834	HP:0100743	Neoplasm of the rectum	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0100834	HP:0100273	Neoplasm of the colon	1	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	147
HP:0100834	HP:0100743	Neoplasm of the rectum	1	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional	147
HP:0100834	HP:0100743	Neoplasm of the rectum	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0100834	HP:0100743	Neoplasm of the rectum	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0100834	HP:0100273	Neoplasm of the colon	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0100834	HP:0100743	Neoplasm of the rectum	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	48
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0100834	HP:0100273	Neoplasm of the colon	1	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61		2
HP:0100834	HP:0100273	Neoplasm of the colon	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma		504
HP:0100834	HP:0100743	Neoplasm of the rectum	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		504
HP:0100834	HP:0100273	Neoplasm of the colon	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		504
HP:0100834	HP:0100273	Neoplasm of the colon	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0100834	HP:0100273	Neoplasm of the colon	1	SMAD7 CL E G H	4092	6773	OMIM:612229	Caudal duplication anomaly		1
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer	.	15
HP:0100834	HP:0100743	Neoplasm of the rectum	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0100834	HP:0100273	Neoplasm of the colon	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	TGFBR2 CL E G H	7048	11773	OMIM:614331	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6		253
HP:0100834	HP:0100743	Neoplasm of the rectum	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent	253
HP:0100834	HP:0100273	Neoplasm of the colon	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer	.	5
HP:0100834	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	1	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer	.	911
HP:0100834	HP:0100273	Neoplasm of the colon	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma		911
HP:0100834	HP:0100273	Neoplasm of the colon	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0100834	HP:0100273	Neoplasm of the colon	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100834	HP:0100743	Neoplasm of the rectum	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0100834	HP:0100273	Neoplasm of the colon	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0100834	HP:0040275	Adenocarcinoma of the large intestine	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0100273	Neoplasm of the colon	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0100834	HP:0100743	Neoplasm of the rectum	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0100834	HP:0030439	Anal canal adenocarcinoma	2	CL E G H
HP:0100834	HP:0030438	Anal canal squamous cell carcinoma	2	CL E G H
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	7
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0100834	HP:0200063	Colorectal polyposis	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100834	HP:0003003	Colon cancer	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	3179
HP:0100834	HP:0003003	Colon cancer	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	3179
HP:0100834	HP:0200063	Colorectal polyposis	2	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0100834	HP:0003003	Colon cancer	2	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0100834	HP:0003003	Colon cancer	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional	3179
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040281 - Very frequent	3179
HP:0100834	HP:0003003	Colon cancer	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040282 - Frequent	3179
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040281 - Very frequent	3179
HP:0100834	HP:0003003	Colon cancer	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040281 - Very frequent	3179
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040281 - Very frequent	3179
HP:0100834	HP:0200063	Colorectal polyposis	2	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	435
HP:0100834	HP:0003003	Colon cancer	2	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis	HP:0040283 - Occasional	435
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	435
HP:0100834	HP:0003003	Colon cancer	2	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0100834	HP:0100896	Rectal polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	385
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	385
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0100834	HP:0003003	Colon cancer	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0100834	HP:0100896	Rectal polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	385
HP:0100834	HP:0200063	Colorectal polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040280 - Obligate	385
HP:0100834	HP:0003003	Colon cancer	2	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0100834	HP:0003003	Colon cancer	2	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0100834	HP:0003003	Colon cancer	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	5769
HP:0100834	HP:0003003	Colon cancer	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	7642
HP:0100834	HP:0003003	Colon cancer	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0100834	HP:0003003	Colon cancer	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0100834	HP:0003003	Colon cancer	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0100834	HP:0003003	Colon cancer	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	289
HP:0100834	HP:0200063	Colorectal polyposis	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0100834	HP:0003003	Colon cancer	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0100834	HP:0003003	Colon cancer	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0100834	HP:0200063	Colorectal polyposis	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0100834	HP:0003003	Colon cancer	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	2
HP:0100834	HP:0200063	Colorectal polyposis	2	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent	670
HP:0100834	HP:0006763	Anal canal squamous carcinoma	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040283 - Occasional	217
HP:0100834	HP:0100896	Rectal polyposis	2	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	186
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	186
HP:0100834	HP:0003003	Colon cancer	2	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0100834	HP:0003003	Colon cancer	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	170
HP:0100834	HP:0003003	Colon cancer	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	15
HP:0100834	HP:0003003	Colon cancer	2	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0100834	HP:0003003	Colon cancer	2	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	9
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0100834	HP:0200063	Colorectal polyposis	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	9
HP:0100834	HP:0100896	Rectal polyposis	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0100834	HP:0003003	Colon cancer	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0100834	HP:0003003	Colon cancer	2	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	58
HP:0100834	HP:0200063	Colorectal polyposis	2	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent
HP:0100834	HP:0200063	Colorectal polyposis	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0100834	HP:0003003	Colon cancer	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	196
HP:0100834	HP:0003003	Colon cancer	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	196
HP:0100834	HP:0003003	Colon cancer	2	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0100834	HP:0003003	Colon cancer	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0100834	HP:0200063	Colorectal polyposis	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0100834	HP:0003003	Colon cancer	2	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	3
HP:0100834	HP:0003003	Colon cancer	2	MLH1 CL E G H	4292	7127	OMIM:609310	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2		1819
HP:0100834	HP:0003003	Colon cancer	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1819
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100834	HP:0003003	Colon cancer	2	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0100834	HP:0003003	Colon cancer	2	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040282 - Frequent	1819
HP:0100834	HP:0003003	Colon cancer	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	131
HP:0100834	HP:0003003	Colon cancer	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2162
HP:0100834	HP:0003003	Colon cancer	2	MSH2 CL E G H	4436	7325	OMIM:120435	Lynch syndrome I	.	2162
HP:0100834	HP:0003003	Colon cancer	2	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0100834	HP:0003003	Colon cancer	2	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040282 - Frequent	2162
HP:0100834	HP:0003003	Colon cancer	2	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0100834	HP:0003003	Colon cancer	2	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	5
HP:0100834	HP:0200063	Colorectal polyposis	2	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	5
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	5
HP:0100834	HP:0003003	Colon cancer	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2232
HP:0100834	HP:0003003	Colon cancer	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100834	HP:0003003	Colon cancer	2	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040282 - Frequent	2232
HP:0100834	HP:0003003	Colon cancer	2	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2		592
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2	.	592
HP:0100834	HP:0200063	Colorectal polyposis	2	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	592
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0100834	HP:0100896	Rectal polyposis	2	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0100834	HP:0003003	Colon cancer	2	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0100834	HP:0003003	Colon cancer	2	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	2
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	2
HP:0100834	HP:0003003	Colon cancer	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	1349
HP:0100834	HP:0003003	Colon cancer	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	192
HP:0100834	HP:0200063	Colorectal polyposis	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0100834	HP:0003003	Colon cancer	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	162
HP:0100834	HP:0003003	Colon cancer	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	56
HP:0100834	HP:0003003	Colon cancer	2	PMS1 CL E G H	5378	9121	OMIM:120435	Lynch syndrome I	.	56
HP:0100834	HP:0003003	Colon cancer	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1121
HP:0100834	HP:0003003	Colon cancer	2	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100834	HP:0200063	Colorectal polyposis	2	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10	.	731
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	731
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	731
HP:0100834	HP:0200063	Colorectal polyposis	2	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	731
HP:0100834	HP:0200063	Colorectal polyposis	2	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12	.	1129
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	1129
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	1129
HP:0100834	HP:0200063	Colorectal polyposis	2	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	1129
HP:0100834	HP:0200063	Colorectal polyposis	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040280 - Obligate	948
HP:0100834	HP:0003003	Colon cancer	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0100834	HP:0200063	Colorectal polyposis	2	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040281 - Very frequent	5
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040282 - Frequent	5
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0100834	HP:0003003	Colon cancer	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0100834	HP:0200063	Colorectal polyposis	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0100834	HP:0200063	Colorectal polyposis	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0100834	HP:0200063	Colorectal polyposis	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0100834	HP:0200063	Colorectal polyposis	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0100834	HP:0003003	Colon cancer	2	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.	2
HP:0100834	HP:0003003	Colon cancer	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	504
HP:0100834	HP:0005227	Adenomatous colonic polyposis	2	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	504
HP:0100834	HP:0100896	Rectal polyposis	2	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	504
HP:0100834	HP:0003003	Colon cancer	2	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0100834	HP:0003003	Colon cancer	2	SMAD7 CL E G H	4092	6773	OMIM:612229	Caudal duplication anomaly		1
HP:0100834	HP:0003003	Colon cancer	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	253
HP:0100834	HP:0003003	Colon cancer	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	911
HP:0100834	HP:0003003	Colon cancer	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0100834	HP:0200063	Colorectal polyposis	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0100834	HP:0003003	Colon cancer	2	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0100834	HP:0003003	Colon cancer	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0100834	HP:0040276	Adenocarcinoma of the colon	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0100834	HP:0200063	Colorectal polyposis	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1