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:0010508	HP:0010508	Metatarsus valgus	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0010508	HP:0010508	Metatarsus valgus	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0010508	HP:0010508	Metatarsus valgus	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0010508	HP:0010508	Metatarsus valgus	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040283 - Occasional	90
HP:0010508	HP:0010508	Metatarsus valgus	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0010508	HP:0010508	Metatarsus valgus	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0010508	HP:0010508	Metatarsus valgus	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0010508	HP:0010508	Metatarsus valgus	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	157
HP:0010508	HP:0010508	Metatarsus valgus	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	184
HP:0010508	HP:0010508	Metatarsus valgus	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040283 - Occasional	52
HP:0010508	HP:0010508	Metatarsus valgus	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0010508	HP:0010508	Metatarsus valgus	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	7
HP:0010508	HP:0010508	Metatarsus valgus	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	136
HP:0010508	HP:0010508	Metatarsus valgus	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0010508	HP:0010508	Metatarsus valgus	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	180
HP:0010508	HP:0010508	Metatarsus valgus	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	33
HP:0010508	HP:0010508	Metatarsus valgus	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	18
HP:0010508	HP:0010508	Metatarsus valgus	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	213
HP:0010508	HP:0010508	Metatarsus valgus	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	221
HP:0010508	HP:0010508	Metatarsus valgus	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0010508	HP:0010508	Metatarsus valgus	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0010508	HP:0010508	Metatarsus valgus	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	67
HP:0010508	HP:0010508	Metatarsus valgus	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6