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:0012848	HP:0012848	Small intestinal stenosis	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0012848	HP:0012848	Small intestinal stenosis	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0012848	HP:0012848	Small intestinal stenosis	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0012848	HP:0012848	Small intestinal stenosis	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0012848	HP:0012848	Small intestinal stenosis	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0012848	HP:0012848	Small intestinal stenosis	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0012848	HP:0012848	Small intestinal stenosis	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0012848	HP:0012848	Small intestinal stenosis	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0012848	HP:0012848	Small intestinal stenosis	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0012848	HP:0012848	Small intestinal stenosis	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0012848	HP:0012848	Small intestinal stenosis	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0012848	HP:0012848	Small intestinal stenosis	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0012848	HP:0012848	Small intestinal stenosis	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0012848	HP:0012848	Small intestinal stenosis	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0012848	HP:0012848	Small intestinal stenosis	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0012848	HP:0012848	Small intestinal stenosis	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0012848	HP:0012848	Small intestinal stenosis	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0012848	HP:0012848	Small intestinal stenosis	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0012848	HP:0012848	Small intestinal stenosis	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0012848	HP:0012848	Small intestinal stenosis	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0012848	HP:0012848	Small intestinal stenosis	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0012848	HP:0012848	Small intestinal stenosis	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome		9
HP:0012848	HP:0012848	Small intestinal stenosis	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0012848	HP:0012848	Small intestinal stenosis	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0012848	HP:0012848	Small intestinal stenosis	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome		71
HP:0012848	HP:0012848	Small intestinal stenosis	0	TTC7A CL E G H	57217	19750	ORPHA:2300	Multiple intestinal atresia		26
HP:0012848	HP:0012848	Small intestinal stenosis	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0012848	HP:0012848	Small intestinal stenosis	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0012848	HP:0100867	Duodenal stenosis	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0012848	HP:0100867	Duodenal stenosis	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0012848	HP:0100867	Duodenal stenosis	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0012848	HP:0100867	Duodenal stenosis	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0012848	HP:0100867	Duodenal stenosis	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0012848	HP:0100867	Duodenal stenosis	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0012848	HP:0100867	Duodenal stenosis	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0012848	HP:0100867	Duodenal stenosis	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0012848	HP:0100867	Duodenal stenosis	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0012848	HP:0100867	Duodenal stenosis	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0012848	HP:0100867	Duodenal stenosis	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0012848	HP:0100867	Duodenal stenosis	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0012848	HP:0100867	Duodenal stenosis	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0012848	HP:0100867	Duodenal stenosis	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0012848	HP:0100867	Duodenal stenosis	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0012848	HP:0100867	Duodenal stenosis	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0012848	HP:0100867	Duodenal stenosis	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0012848	HP:0100867	Duodenal stenosis	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0012848	HP:0100867	Duodenal stenosis	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0012848	HP:0100867	Duodenal stenosis	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0012848	HP:0100867	Duodenal stenosis	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0012848	HP:0100867	Duodenal stenosis	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	9
HP:0012848	HP:0100867	Duodenal stenosis	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0012848	HP:0100867	Duodenal stenosis	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0012848	HP:0100867	Duodenal stenosis	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	71
HP:0012848	HP:0100867	Duodenal stenosis	1	TTC7A CL E G H	57217	19750	ORPHA:2300	Multiple intestinal atresia	HP:0040281 - Very frequent	26
HP:0012848	HP:0100867	Duodenal stenosis	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0012848	HP:0100867	Duodenal stenosis	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125