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:0003376	HP:0003376	Steppage gait	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040283 - Occasional
HP:0003376	HP:0003376	Steppage gait	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	71
HP:0003376	HP:0003376	Steppage gait	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	5
HP:0003376	HP:0003376	Steppage gait	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	.	4
HP:0003376	HP:0003376	Steppage gait	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0003376	HP:0003376	Steppage gait	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0003376	HP:0003376	Steppage gait	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0003376	HP:0003376	Steppage gait	0	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	.	4
HP:0003376	HP:0003376	Steppage gait	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.	2
HP:0003376	HP:0003376	Steppage gait	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040283 - Occasional	21
HP:0003376	HP:0003376	Steppage gait	0	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D	.	58
HP:0003376	HP:0003376	Steppage gait	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0003376	HP:0003376	Steppage gait	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.	68
HP:0003376	HP:0003376	Steppage gait	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0003376	HP:0003376	Steppage gait	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0003376	HP:0003376	Steppage gait	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.	108
HP:0003376	HP:0003376	Steppage gait	0	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F	.	12
HP:0003376	HP:0003376	Steppage gait	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0003376	HP:0003376	Steppage gait	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional	434
HP:0003376	HP:0003376	Steppage gait	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040282 - Frequent
HP:0003376	HP:0003376	Steppage gait	0	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0003376	HP:0003376	Steppage gait	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0003376	HP:0003376	Steppage gait	0	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	HP:0040281 - Very frequent	47
HP:0003376	HP:0003376	Steppage gait	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.	47
HP:0003376	HP:0003376	Steppage gait	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.	13
HP:0003376	HP:0003376	Steppage gait	0	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	.	209
HP:0003376	HP:0003376	Steppage gait	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0003376	HP:0003376	Steppage gait	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B	.
HP:0003376	HP:0003376	Steppage gait	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.	202
HP:0003376	HP:0003376	Steppage gait	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0003376	HP:0003376	Steppage gait	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0003376	HP:0003376	Steppage gait	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.	645
HP:0003376	HP:0003376	Steppage gait	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.	102
HP:0003376	HP:0003376	Steppage gait	0	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U	.
HP:0003376	HP:0003376	Steppage gait	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional	203
HP:0003376	HP:0003376	Steppage gait	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.	203
HP:0003376	HP:0003376	Steppage gait	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0003376	HP:0003376	Steppage gait	0	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I	.	134
HP:0003376	HP:0003376	Steppage gait	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0003376	HP:0003376	Steppage gait	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J	.	134
HP:0003376	HP:0003376	Steppage gait	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0003376	HP:0003376	Steppage gait	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0003376	HP:0003376	Steppage gait	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0003376	HP:0003376	Steppage gait	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0003376	HP:0003376	Steppage gait	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0003376	HP:0003376	Steppage gait	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040283 - Occasional	118
HP:0003376	HP:0003376	Steppage gait	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0003376	HP:0003376	Steppage gait	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	.	118
HP:0003376	HP:0003376	Steppage gait	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.	118
HP:0003376	HP:0003376	Steppage gait	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	.	4
HP:0003376	HP:0003376	Steppage gait	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040282 - Frequent	4
HP:0003376	HP:0003376	Steppage gait	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0003376	HP:0003376	Steppage gait	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G	.	1
HP:0003376	HP:0003376	Steppage gait	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.	79
HP:0003376	HP:0003376	Steppage gait	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional	79
HP:0003376	HP:0003376	Steppage gait	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0003376	HP:0003376	Steppage gait	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0003376	HP:0003376	Steppage gait	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003376	HP:0003376	Steppage gait	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0003376	HP:0003376	Steppage gait	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0003376	HP:0003376	Steppage gait	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.	50
HP:0003376	HP:0003376	Steppage gait	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.	180
HP:0003376	HP:0003376	Steppage gait	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent	40
HP:0003376	HP:0003376	Steppage gait	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.	14
HP:0003376	HP:0003376	Steppage gait	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1	.	42
HP:0003376	HP:0003376	Steppage gait	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	54
HP:0003376	HP:0003376	Steppage gait	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent	149
HP:0003376	HP:0003376	Steppage gait	0	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040282 - Frequent	62
HP:0003376	HP:0003376	Steppage gait	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0003376	HP:0003376	Steppage gait	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0003376	HP:0003376	Steppage gait	0	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	.	52
HP:0003376	HP:0003376	Steppage gait	0	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040282 - Frequent	5
HP:0003376	HP:0003376	Steppage gait	0	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy	.	5
HP:0003376	HP:0003376	Steppage gait	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0003376	HP:0003376	Steppage gait	0	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive	.	7128
HP:0003376	HP:0003376	Steppage gait	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63