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:0001863	HP:0001863	Toe clinodactyly	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id		37
HP:0001863	HP:0001863	Toe clinodactyly	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001863	HP:0001863	Toe clinodactyly	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome		7
HP:0001863	HP:0001863	Toe clinodactyly	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0001863	HP:0001863	Toe clinodactyly	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	2
HP:0001863	HP:0001863	Toe clinodactyly	0	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus
HP:0001863	HP:0001863	Toe clinodactyly	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0001863	HP:0001863	Toe clinodactyly	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0001863	HP:0001863	Toe clinodactyly	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0001863	HP:0001863	Toe clinodactyly	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001863	HP:0001863	Toe clinodactyly	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0001863	HP:0001863	Toe clinodactyly	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0001863	HP:0001863	Toe clinodactyly	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0001863	HP:0001863	Toe clinodactyly	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0001863	HP:0001863	Toe clinodactyly	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001863	HP:0001863	Toe clinodactyly	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17		1
HP:0001863	HP:0001863	Toe clinodactyly	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0001863	HP:0001863	Toe clinodactyly	0	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus		3
HP:0001863	HP:0001863	Toe clinodactyly	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0001863	HP:0001863	Toe clinodactyly	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	124
HP:0001863	HP:0001863	Toe clinodactyly	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0001863	HP:0001863	Toe clinodactyly	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0001863	HP:0001863	Toe clinodactyly	0	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus		253
HP:0001863	HP:0001863	Toe clinodactyly	0	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus		149
HP:0001863	HP:0001863	Toe clinodactyly	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0001863	HP:0040018	Clinodactyly of hallux	1	CL E G H
HP:0001863	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:0001863	HP:0001864	Clinodactyly of the 5th toe	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0001863	HP:0011918	Clinodactyly of the 4th toe	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0001863	HP:0008115	Clinodactyly of the 3rd toe	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0001863	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:0001863	HP:0011918	Clinodactyly of the 4th toe	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001863	HP:0001864	Clinodactyly of the 5th toe	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001863	HP:0005824	Clinodactyly of the 2nd toe	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0001863	HP:0001864	Clinodactyly of the 5th toe	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0001863	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:0001863	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:0001863	HP:0011918	Clinodactyly of the 4th toe	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0001863	HP:0001864	Clinodactyly of the 5th toe	1	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17		1
HP:0001863	HP:0001864	Clinodactyly of the 5th toe	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0001863	HP:0011918	Clinodactyly of the 4th toe	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0001863	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:0001863	HP:0001864	Clinodactyly of the 5th toe	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0001863	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:0001863	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