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:0010344	HP:0010344	Deviation of the 5th toe	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id		37
HP:0010344	HP:0010344	Deviation of the 5th toe	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0010344	HP:0010344	Deviation of the 5th toe	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome		7
HP:0010344	HP:0010344	Deviation of the 5th toe	0	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus
HP:0010344	HP:0010344	Deviation of the 5th toe	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0010344	HP:0010344	Deviation of the 5th toe	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0010344	HP:0010344	Deviation of the 5th toe	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0010344	HP:0010344	Deviation of the 5th toe	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0010344	HP:0010344	Deviation of the 5th toe	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17		1
HP:0010344	HP:0010344	Deviation of the 5th toe	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0010344	HP:0010344	Deviation of the 5th toe	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0010344	HP:0010344	Deviation of the 5th toe	0	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus		3
HP:0010344	HP:0010344	Deviation of the 5th toe	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0010344	HP:0010344	Deviation of the 5th toe	0	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus		253
HP:0010344	HP:0010344	Deviation of the 5th toe	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0010344	HP:0010344	Deviation of the 5th toe	0	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus		149
HP:0010344	HP:0100346	Fibular deviation of the 5th toe	1	CL E G H
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0010344	HP:0100347	Tibial deviation of the 5th toe	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17		1
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent	3
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent	253
HP:0010344	HP:0001864	Clinodactyly of the 5th toe	1	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent	149