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:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer		54
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	APC CL E G H	324	583	OMIM:114500	Colorectal cancer		3179
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer		1
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer		435
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer		4
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer		276
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer		5
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer		76
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer		1
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer		833
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer		88
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer		36
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer		11
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer		250
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer		145
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer		332
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer		6
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer		131
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	MLH3 CL E G H	27030	7128	OMIM:614385	Colorectal cancer, hereditary nonpolyposis, type 7		131
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5		2232
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer		102
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer		2
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer		162
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer		1
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	PMS2 CL E G H	5395	9122	OMIM:614337	Colorectal cancer, hereditary nonpolyposis, type 4		1121
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer		1
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer		3
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer		2
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer		15
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	TGFBR2 CL E G H	7048	11773	OMIM:614331	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6		253
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer		5
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer		911
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0006749	Malignant gastrointestinal tract tumors	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer		54
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	APC CL E G H	324	583	OMIM:114500	Colorectal cancer		3179
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer		1
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer		435
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer		4
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer		276
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer		5
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer		76
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer		1
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer		833
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer		88
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer		36
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer		11
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer		250
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer		145
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer		332
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer		6
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer		131
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	MLH3 CL E G H	27030	7128	OMIM:614385	Colorectal cancer, hereditary nonpolyposis, type 7		131
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5		2232
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer		102
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer		2
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer		162
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer		1
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	PMS2 CL E G H	5395	9122	OMIM:614337	Colorectal cancer, hereditary nonpolyposis, type 4		1121
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer		1
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer		3
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer		2
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer		15
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040281 - Very frequent	740
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	TGFBR2 CL E G H	7048	11773	OMIM:614331	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6		253
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer		5
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer		911
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0002672	Gastrointestinal carcinoma	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional	310
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer	.	54
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	APC CL E G H	324	583	OMIM:114500	Colorectal cancer	.	3179
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer	.	1
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer	.	435
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer	.	4
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer	.	276
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer	.	5
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer	.	76
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer	.	1
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer	.	833
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer	.	88
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer	.	36
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer	.	11
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer	.	250
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8	.	170
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer	.	145
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer	.	332
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer	.	6
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer	.	131
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	MLH3 CL E G H	27030	7128	OMIM:614385	Colorectal cancer, hereditary nonpolyposis, type 7	.	131
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5	.	2232
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer	.	102
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer	.	2
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer	.	162
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer	.	1
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	PMS2 CL E G H	5395	9122	OMIM:614337	Colorectal cancer, hereditary nonpolyposis, type 4	.	1121
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer	.	1
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer	.	3
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer	.	2
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer	.	15
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	TGFBR2 CL E G H	7048	11773	OMIM:614331	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6		253
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer	.	5
HP:0006749	HP:0006716	Hereditary nonpolyposis colorectal carcinoma	2	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer	.	911
HP:0006749	HP:0040273	Adenocarcinoma of the intestines	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	7
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	2
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0006749	HP:0040274	Adenocarcinoma of the small intestine	3	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0006749	HP:0040275	Adenocarcinoma of the large intestine	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0006749	HP:0030412	Ileal adenocarcinoma	4	CL E G H
HP:0006749	HP:0030411	Jejunal adenocarcinoma	4	CL E G H
HP:0006749	HP:0030439	Anal canal adenocarcinoma	4	CL E G H
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	7
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0006749	HP:0006771	Duodenal adenocarcinoma	4	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0006749	HP:0006771	Duodenal adenocarcinoma	4	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	385
HP:0006749	HP:0006771	Duodenal adenocarcinoma	4	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare	385
HP:0006749	HP:0006771	Duodenal adenocarcinoma	4	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare	2
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	9
HP:0006749	HP:0006771	Duodenal adenocarcinoma	4	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare	9
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0006749	HP:0006771	Duodenal adenocarcinoma	4	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0006749	HP:0006771	Duodenal adenocarcinoma	4	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0006749	HP:0006771	Duodenal adenocarcinoma	4	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0006749	HP:0006771	Duodenal adenocarcinoma	4	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040283 - Occasional	2
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	731
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	1129
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0006749	HP:0006771	Duodenal adenocarcinoma	4	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0006749	HP:0040276	Adenocarcinoma of the colon	4	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1