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:0001549	HP:0001549	Abnormal ileum morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0001549	HP:0001549	Abnormal ileum morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0001549	HP:0001549	Abnormal ileum morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0001549	HP:0001549	Abnormal ileum morphology	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0001549	HP:0001549	Abnormal ileum morphology	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0001549	HP:0001549	Abnormal ileum morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0001549	HP:0001549	Abnormal ileum morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0001549	HP:0001549	Abnormal ileum morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0001549	HP:0001549	Abnormal ileum morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0001549	HP:0001549	Abnormal ileum morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0001549	HP:0001549	Abnormal ileum morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0001549	HP:0001549	Abnormal ileum morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0001549	HP:0001549	Abnormal ileum morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0001549	HP:0001549	Abnormal ileum morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0001549	HP:0001549	Abnormal ileum morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0001549	HP:0001549	Abnormal ileum morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0001549	HP:0001549	Abnormal ileum morphology	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0001549	HP:0001549	Abnormal ileum morphology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001549	HP:0001549	Abnormal ileum morphology	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0001549	HP:0001549	Abnormal ileum morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001549	HP:0001549	Abnormal ileum morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001549	HP:0001549	Abnormal ileum morphology	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001549	HP:0001549	Abnormal ileum morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0001549	HP:0001549	Abnormal ileum morphology	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0001549	HP:0001549	Abnormal ileum morphology	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0001549	HP:0001549	Abnormal ileum morphology	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0001549	HP:0001549	Abnormal ileum morphology	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0001549	HP:0001549	Abnormal ileum morphology	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0001549	HP:0001549	Abnormal ileum morphology	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0001549	HP:0001549	Abnormal ileum morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001549	HP:0001549	Abnormal ileum morphology	0	RELA CL E G H	5970	9955	OMIM:618287	MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU		1
HP:0001549	HP:0001549	Abnormal ileum morphology	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001549	HP:0001549	Abnormal ileum morphology	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0001549	HP:0001549	Abnormal ileum morphology	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0001549	HP:0001549	Abnormal ileum morphology	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0001549	HP:0001549	Abnormal ileum morphology	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0001549	HP:0001549	Abnormal ileum morphology	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0001549	HP:0001549	Abnormal ileum morphology	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0001549	HP:0033433	Ileocecal ulcer	1	CL E G H
HP:0001549	HP:0002245	Meckel diverticulum	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0001549	HP:0002245	Meckel diverticulum	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0001549	HP:0002245	Meckel diverticulum	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0001549	HP:0032564	Ileitis	1	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0001549	HP:0011102	Ileal atresia	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0001549	HP:0002245	Meckel diverticulum	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0001549	HP:0002245	Meckel diverticulum	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0001549	HP:0002245	Meckel diverticulum	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0001549	HP:0002245	Meckel diverticulum	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0001549	HP:0002245	Meckel diverticulum	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0001549	HP:0002245	Meckel diverticulum	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001549	HP:0002245	Meckel diverticulum	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0001549	HP:0002245	Meckel diverticulum	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001549	HP:0002245	Meckel diverticulum	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0001549	HP:0002245	Meckel diverticulum	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0001549	HP:0002245	Meckel diverticulum	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0001549	HP:0002245	Meckel diverticulum	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.	172
HP:0001549	HP:0002245	Meckel diverticulum	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001549	HP:0011102	Ileal atresia	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0001549	HP:0002245	Meckel diverticulum	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001549	HP:0002245	Meckel diverticulum	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001549	HP:0002245	Meckel diverticulum	1	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001549	HP:0002245	Meckel diverticulum	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0001549	HP:0011102	Ileal atresia	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0001549	HP:0002245	Meckel diverticulum	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0001549	HP:0005229	Jejunoileal ulceration	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	11
HP:0001549	HP:0011102	Ileal atresia	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0001549	HP:0002245	Meckel diverticulum	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0001549	HP:0002245	Meckel diverticulum	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0001549	HP:0002245	Meckel diverticulum	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0001549	HP:0032564	Ileitis	1	RELA CL E G H	5970	9955	OMIM:618287	MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU		1
HP:0001549	HP:0002245	Meckel diverticulum	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001549	HP:0002245	Meckel diverticulum	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0001549	HP:0032024	Ileal ulcer	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0001549	HP:0005229	Jejunoileal ulceration	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	26
HP:0001549	HP:0011102	Ileal atresia	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0001549	HP:0002245	Meckel diverticulum	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0001549	HP:0002245	Meckel diverticulum	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0001549	HP:4000012	Necrotizing ileitis	2	CL E G H
HP:0001549	HP:0200116	Distal ileal atresia	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164