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:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040282 - Frequent	1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional	3179
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS		3179
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional	192
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	385
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		385
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040281 - Very frequent	385
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040283 - Occasional	242
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	3
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional	88
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		186
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	170
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040283 - Occasional	33
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency	HP:0040284 - Very rare	132
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	159
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency	HP:0040281 - Very frequent	70
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040283 - Occasional	303
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional	303
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B	.	143
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	15
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent	59
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040283 - Occasional
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FGA CL E G H	2243	3661	ORPHA:98881	Familial dysfibrinogenemia	HP:0040281 - Very frequent	47
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FGA CL E G H	2243	3661	ORPHA:101041	Familial hypofibrinogenemia	HP:0040281 - Very frequent	47
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FGB CL E G H	2244	3662	ORPHA:98881	Familial dysfibrinogenemia	HP:0040281 - Very frequent	62
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FGB CL E G H	2244	3662	ORPHA:101041	Familial hypofibrinogenemia	HP:0040281 - Very frequent	62
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FGG CL E G H	2266	3694	ORPHA:98881	Familial dysfibrinogenemia	HP:0040281 - Very frequent	34
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	FGG CL E G H	2266	3694	ORPHA:101041	Familial hypofibrinogenemia	HP:0040281 - Very frequent	34
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	23
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	23
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	8
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	8
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	21
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent	4
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	55
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040282 - Frequent	26
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent	60
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	119
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	69
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia	.	69
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	80
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	57
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III		1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	327
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	196
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040283 - Occasional	56
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional	125
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040283 - Occasional	77
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent	281
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1819
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	131
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2162
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2232
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent	150
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	337
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	162
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	56
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1121
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional	63
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040281 - Very frequent	948
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040281 - Very frequent	80
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	304
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	237
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	237
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	147
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	147
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	129
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional	137
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent	48
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040283 - Occasional	39
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	13
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		504
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040282 - Frequent	740
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.	2
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus		78
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TEK CL E G H	7010	11724	OMIM:600195	Venous malformations, multiple cutaneous and mucosal		78
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	253
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent	3
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040283 - Occasional	134
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy		56
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	389
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0002239	HP:0002239	Gastrointestinal hemorrhage	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0002239	HP:0032144	Coffee ground vomitus	1	CL E G H
HP:0002239	HP:0002573	Hematochezia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002239	HP:0002248	Hematemesis	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002239	HP:0002249	Melena	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002239	HP:0002573	Hematochezia	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0002239	HP:0002584	Intestinal bleeding	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0002239	HP:0002249	Melena	1	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS		3179
HP:0002239	HP:0002573	Hematochezia	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0002239	HP:0002249	Melena	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0002239	HP:0002573	Hematochezia	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002239	HP:0002248	Hematemesis	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional	169
HP:0002239	HP:0002249	Melena	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional	169
HP:0002239	HP:0002573	Hematochezia	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	385
HP:0002239	HP:0002573	Hematochezia	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040281 - Very frequent	385
HP:0002239	HP:0002573	Hematochezia	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0002239	HP:0002584	Intestinal bleeding	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0002239	HP:0002249	Melena	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0002239	HP:0002573	Hematochezia	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0002239	HP:0002249	Melena	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional
HP:0002239	HP:0002249	Melena	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0002239	HP:0002248	Hematemesis	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0002239	HP:0002249	Melena	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0002239	HP:0002248	Hematemesis	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0002239	HP:0002249	Melena	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0002239	HP:0002248	Hematemesis	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0002239	HP:0002248	Hematemesis	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002239	HP:0002249	Melena	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002239	HP:0002584	Intestinal bleeding	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0002239	HP:0002573	Hematochezia	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0002239	HP:0002249	Melena	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0002239	HP:0002248	Hematemesis	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0002239	HP:0002573	Hematochezia	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	186
HP:0002239	HP:0002249	Melena	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002239	HP:0002248	Hematemesis	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002239	HP:0002573	Hematochezia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002239	HP:0002573	Hematochezia	1	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040284 - Very rare	159
HP:0002239	HP:0002249	Melena	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0002239	HP:0002248	Hematemesis	1	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0002239	HP:0002248	Hematemesis	1	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0002239	HP:0002248	Hematemesis	1	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0002239	HP:0002248	Hematemesis	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	23
HP:0002239	HP:0002249	Melena	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	23
HP:0002239	HP:0002248	Hematemesis	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	8
HP:0002239	HP:0002249	Melena	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	8
HP:0002239	HP:0002248	Hematemesis	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	21
HP:0002239	HP:0002573	Hematochezia	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040281 - Very frequent	9
HP:0002239	HP:0002573	Hematochezia	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0002239	HP:0002248	Hematemesis	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002239	HP:0002573	Hematochezia	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002239	HP:0002573	Hematochezia	1	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0002239	HP:0002249	Melena	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	119
HP:0002239	HP:0002249	Melena	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	69
HP:0002239	HP:0002249	Melena	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	80
HP:0002239	HP:0002249	Melena	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional	1
HP:0002239	HP:0002248	Hematemesis	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0002239	HP:0002248	Hematemesis	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0002239	HP:0002249	Melena	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0002239	HP:0002248	Hematemesis	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0002239	HP:0002573	Hematochezia	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0002239	HP:0002249	Melena	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0002239	HP:0002584	Intestinal bleeding	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0002239	HP:0002573	Hematochezia	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0002239	HP:0002249	Melena	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional
HP:0002239	HP:0002573	Hematochezia	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0002239	HP:0002573	Hematochezia	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	504
HP:0002239	HP:0002573	Hematochezia	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0002239	HP:0002573	Hematochezia	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	.	504
HP:0002239	HP:0002249	Melena	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	HP:0040283 - Occasional	1
HP:0002239	HP:0002584	Intestinal bleeding	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0002239	HP:0002573	Hematochezia	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002239	HP:0002584	Intestinal bleeding	1	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus	HP:0040282 - Frequent	78
HP:0002239	HP:0002584	Intestinal bleeding	1	TEK CL E G H	7010	11724	OMIM:600195	Venous malformations, multiple cutaneous and mucosal	.	78
HP:0002239	HP:0002573	Hematochezia	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	.	26
HP:0002239	HP:0002248	Hematemesis	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0002239	HP:0002248	Hematemesis	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0002239	HP:0002573	Hematochezia	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0002239	HP:0002249	Melena	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0002239	HP:0002248	Hematemesis	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0002239	HP:0002573	Hematochezia	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0002239	HP:0012849	Small intestinal bleeding	2	CL E G H