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:0005222	HP:0005222	Bowel diverticulosis	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0005222	HP:0005222	Bowel diverticulosis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040282 - Frequent	89
HP:0005222	HP:0005222	Bowel diverticulosis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0005222	HP:0005222	Bowel diverticulosis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0005222	HP:0005222	Bowel diverticulosis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0005222	HP:0005222	Bowel diverticulosis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0005222	HP:0005222	Bowel diverticulosis	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660
HP:0005222	HP:0005222	Bowel diverticulosis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0005222	HP:0005222	Bowel diverticulosis	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0005222	HP:0005222	Bowel diverticulosis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0005222	HP:0005222	Bowel diverticulosis	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040282 - Frequent	172
HP:0005222	HP:0005222	Bowel diverticulosis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0005222	HP:0005222	Bowel diverticulosis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0005222	HP:0005222	Bowel diverticulosis	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0005222	HP:0005222	Bowel diverticulosis	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040282 - Frequent	63
HP:0005222	HP:0005222	Bowel diverticulosis	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0005222	HP:0005222	Bowel diverticulosis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0005222	HP:0005222	Bowel diverticulosis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0005222	HP:0005222	Bowel diverticulosis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0005222	HP:0005222	Bowel diverticulosis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0005222	HP:0005222	Bowel diverticulosis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0005222	HP:0005222	Bowel diverticulosis	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0005222	HP:0005222	Bowel diverticulosis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0005222	HP:0005222	Bowel diverticulosis	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0005222	HP:0005222	Bowel diverticulosis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0005222	HP:0005222	Bowel diverticulosis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0005222	HP:0005222	Bowel diverticulosis	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0005222	HP:0005222	Bowel diverticulosis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0005222	HP:0005222	Bowel diverticulosis	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0005222	HP:0005222	Bowel diverticulosis	0	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys		342
HP:0005222	HP:0005222	Bowel diverticulosis	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0005222	HP:0005222	Bowel diverticulosis	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0005222	HP:0005222	Bowel diverticulosis	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0005222	HP:0005222	Bowel diverticulosis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0005222	HP:0005222	Bowel diverticulosis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0005222	HP:0005222	Bowel diverticulosis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0005222	HP:0005222	Bowel diverticulosis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0005222	HP:0005222	Bowel diverticulosis	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0005222	HP:0005222	Bowel diverticulosis	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0005222	HP:0005222	Bowel diverticulosis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0005222	HP:0002253	Colonic diverticula	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0005222	HP:0002256	Small bowel diverticula	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0005222	HP:0002253	Colonic diverticula	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0002253	Colonic diverticula	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0002253	Colonic diverticula	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0002253	Colonic diverticula	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0002253	Colonic diverticula	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0002256	Small bowel diverticula	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0005222	HP:0002253	Colonic diverticula	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0002256	Small bowel diverticula	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0005222	HP:0002253	Colonic diverticula	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0005222	HP:0002253	Colonic diverticula	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0005222	HP:0002253	Colonic diverticula	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.	12
HP:0005222	HP:0002256	Small bowel diverticula	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0005222	HP:0002256	Small bowel diverticula	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0005222	HP:0002253	Colonic diverticula	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0002253	Colonic diverticula	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0005222	HP:0002253	Colonic diverticula	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0005222	HP:0002253	Colonic diverticula	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0005222	HP:0002253	Colonic diverticula	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0002256	Small bowel diverticula	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0005222	HP:0002253	Colonic diverticula	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0005222	HP:0002253	Colonic diverticula	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0005222	HP:0002253	Colonic diverticula	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0005222	HP:0002253	Colonic diverticula	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0005222	HP:0002253	Colonic diverticula	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162
HP:0005222	HP:0002253	Colonic diverticula	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0005222	HP:0002253	Colonic diverticula	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0005222	HP:0002253	Colonic diverticula	1	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys	.	342
HP:0005222	HP:0002253	Colonic diverticula	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0005222	HP:0002253	Colonic diverticula	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0005222	HP:0002253	Colonic diverticula	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0005222	HP:0002253	Colonic diverticula	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0002253	Colonic diverticula	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0002253	Colonic diverticula	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0002253	Colonic diverticula	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0002253	Colonic diverticula	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0005222	HP:0002253	Colonic diverticula	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0005222	HP:0002253	Colonic diverticula	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0005222	HP:0004800	Duodenal diverticula	2	CL E G H
HP:0005222	HP:0004799	Jejunoileal diverticula	2	CL E G H
HP:0005222	HP:0004786	Jejunal diverticula	2	CL E G H