Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002362	HP:0002362	Shuffling gait	0	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	696	2433	164770
HP:0002362	HP:0002362	Shuffling gait	0	DNAJC6 CL E G H	9829	615528	Parkinson disease 19a, juvenile-onset	615528	C3809811	OMIM	1	310	15469	608375
HP:0002362	HP:0002362	Shuffling gait	0	FBXO7 CL E G H	25793	171695				ORPHA	1	243	13586	605648
HP:0002362	HP:0002362	Shuffling gait	0	KDM5C CL E G H	8242	300534	Mental retardation, syndromic, Claes-Jensen type, X-linked	300534	C1845243	OMIM	1	756	11114	314690
HP:0002362	HP:0002362	Shuffling gait	0	L1CAM CL E G H	3897	303350	Spastic paraplegia 1	303350	C0795953	OMIM	1	968	6470	308840
HP:0002362	HP:0002362	Shuffling gait	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1925	6990	300005
HP:0002362	HP:0002362	Shuffling gait	0	RAB39B CL E G H	116442	311510	Parkinsonism, early onset with mental retardation	311510	C0796195	OMIM	1	320	16499	300774
HP:0002362	HP:0002362	Shuffling gait	0	SGCD CL E G H	6444	219	Congenital giant megaureter			ORPHA	1	673	10807	601411
HP:0002362	HP:0002362	Shuffling gait	0	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0002362	HP:0002362	Shuffling gait	0	SLC18A2 CL E G H	6571	618049	PARKINSONISM-DYSTONIA, INFANTILE, 2	618049	CN248785	OMIM	1	183	10935	193001
HP:0002362	HP:0002362	Shuffling gait	0	SNCA CL E G H	6622	171695				ORPHA	1	193	11138	163890
HP:0002362	HP:0002362	Shuffling gait	0	SNCA CL E G H	6622	168601	Parkinson disease 1	168601	C1868595	OMIM	1	193	11138	163890
HP:0002362	HP:0002362	Shuffling gait	0	SYNJ1 CL E G H	8867	615530	Parkinson disease 20, early-onset	615530	C3809824	OMIM	1	1315	11503	604297
HP:0002362	HP:0002362	Shuffling gait	0	TAF1 CL E G H	6872	53351				ORPHA	1	534	11535	313650
HP:0002362	HP:0007311	Short stepped shuffling gait	1	CSF1R CL E G H	1436	221820	Hereditary diffuse leukoencephalopathy with spheroids	221820	C3711381	OMIM	1	696	2433	164770
HP:0002362	HP:0007311	Short stepped shuffling gait	1	DNAJC6 CL E G H	9829	615528	Parkinson disease 19a, juvenile-onset	615528	C3809811	OMIM	1	310	15469	608375
HP:0002362	HP:0007311	Short stepped shuffling gait	1	FBXO7 CL E G H	25793	171695				ORPHA	1	243	13586	605648
HP:0002362	HP:0007311	Short stepped shuffling gait	1	KDM5C CL E G H	8242	300534	Mental retardation, syndromic, Claes-Jensen type, X-linked	300534	C1845243	OMIM	1	756	11114	314690
HP:0002362	HP:0007311	Short stepped shuffling gait	1	L1CAM CL E G H	3897	303350	Spastic paraplegia 1	303350	C0795953	OMIM	1	968	6470	308840
HP:0002362	HP:0007311	Short stepped shuffling gait	1	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1925	6990	300005
HP:0002362	HP:0007311	Short stepped shuffling gait	1	RAB39B CL E G H	116442	311510	Parkinsonism, early onset with mental retardation	311510	C0796195	OMIM	1	320	16499	300774
HP:0002362	HP:0007311	Short stepped shuffling gait	1	SGCD CL E G H	6444	219	Congenital giant megaureter			ORPHA	1	673	10807	601411
HP:0002362	HP:0007311	Short stepped shuffling gait	1	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0002362	HP:0007311	Short stepped shuffling gait	1	SLC18A2 CL E G H	6571	618049	PARKINSONISM-DYSTONIA, INFANTILE, 2	618049	CN248785	OMIM	1	183	10935	193001
HP:0002362	HP:0007311	Short stepped shuffling gait	1	SNCA CL E G H	6622	171695				ORPHA	1	193	11138	163890
HP:0002362	HP:0007311	Short stepped shuffling gait	1	SNCA CL E G H	6622	168601	Parkinson disease 1	168601	C1868595	OMIM	1	193	11138	163890
HP:0002362	HP:0007311	Short stepped shuffling gait	1	SYNJ1 CL E G H	8867	615530	Parkinson disease 20, early-onset	615530	C3809824	OMIM	1	1315	11503	604297
HP:0002362	HP:0007311	Short stepped shuffling gait	1	TAF1 CL E G H	6872	53351				ORPHA	1	534	11535	313650
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002362	HP:0002362	Shuffling gait	0	C19orf12 CL E G H	83636	289560				ORPHA	0	307	25443	614297
HP:0002362	HP:0002362	Shuffling gait	0	DNAJC13 CL E G H	23317	411602				ORPHA	0	237	30343	614334
HP:0002362	HP:0002362	Shuffling gait	0	EIF4G1 CL E G H	1981	411602				ORPHA	0	147	3296	600495
HP:0002362	HP:0002362	Shuffling gait	0	GBA CL E G H	2629	411602				ORPHA	0		4177	606463
HP:0002362	HP:0002362	Shuffling gait	0	GIGYF2 CL E G H	26058	411602				ORPHA	0	338	11960	612003
HP:0002362	HP:0002362	Shuffling gait	0	LRRK2 CL E G H	120892	411602				ORPHA	0	2948	18618	609007
HP:0002362	HP:0002362	Shuffling gait	0	NAA10 CL E G H	8260	276432				ORPHA	0	401	18704	300013
HP:0002362	HP:0002362	Shuffling gait	0	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0002362	HP:0002362	Shuffling gait	0	SNCA CL E G H	6622	411602				ORPHA	0	193	11138	163890
HP:0002362	HP:0002362	Shuffling gait	0	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0002362	HP:0002362	Shuffling gait	0	VPS35 CL E G H	55737	411602				ORPHA	0	228	13487	601501
HP:0002362	HP:0007311	Short stepped shuffling gait	1	C19orf12 CL E G H	83636	289560				ORPHA	0	307	25443	614297
HP:0002362	HP:0007311	Short stepped shuffling gait	1	DNAJC13 CL E G H	23317	411602				ORPHA	0	237	30343	614334
HP:0002362	HP:0007311	Short stepped shuffling gait	1	EIF4G1 CL E G H	1981	411602				ORPHA	0	147	3296	600495
HP:0002362	HP:0007311	Short stepped shuffling gait	1	GBA CL E G H	2629	411602				ORPHA	0		4177	606463
HP:0002362	HP:0007311	Short stepped shuffling gait	1	GIGYF2 CL E G H	26058	411602				ORPHA	0	338	11960	612003
HP:0002362	HP:0007311	Short stepped shuffling gait	1	LRRK2 CL E G H	120892	411602				ORPHA	0	2948	18618	609007
HP:0002362	HP:0007311	Short stepped shuffling gait	1	NAA10 CL E G H	8260	276432				ORPHA	0	401	18704	300013
HP:0002362	HP:0007311	Short stepped shuffling gait	1	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0002362	HP:0007311	Short stepped shuffling gait	1	SNCA CL E G H	6622	411602				ORPHA	0	193	11138	163890
HP:0002362	HP:0007311	Short stepped shuffling gait	1	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0002362	HP:0007311	Short stepped shuffling gait	1	VPS35 CL E G H	55737	411602				ORPHA	0	228	13487	601501