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:0007373	HP:0007373	Motor neuron atrophy	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0007373	HP:0007373	Motor neuron atrophy	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0007373	HP:0007373	Motor neuron atrophy	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0007373	HP:0007373	Motor neuron atrophy	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	32
HP:0007373	HP:0007373	Motor neuron atrophy	0	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9		32
HP:0007373	HP:0007373	Motor neuron atrophy	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0007373	HP:0007373	Motor neuron atrophy	0	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0007373	HP:0007373	Motor neuron atrophy	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0007373	HP:0007373	Motor neuron atrophy	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	11
HP:0007373	HP:0007373	Motor neuron atrophy	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0007373	HP:0007373	Motor neuron atrophy	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	56
HP:0007373	HP:0007373	Motor neuron atrophy	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1		56
HP:0007373	HP:0007373	Motor neuron atrophy	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0007373	HP:0007373	Motor neuron atrophy	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0007373	HP:0007373	Motor neuron atrophy	0	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy
HP:0007373	HP:0007373	Motor neuron atrophy	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0007373	HP:0007373	Motor neuron atrophy	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	11
HP:0007373	HP:0007373	Motor neuron atrophy	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0007373	HP:0007373	Motor neuron atrophy	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	42
HP:0007373	HP:0007373	Motor neuron atrophy	0	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy
HP:0007373	HP:0007373	Motor neuron atrophy	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0007373	HP:0007373	Motor neuron atrophy	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0007373	HP:0007373	Motor neuron atrophy	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	86
HP:0007373	HP:0007373	Motor neuron atrophy	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0007373	HP:0007373	Motor neuron atrophy	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	4
HP:0007373	HP:0007373	Motor neuron atrophy	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	15
HP:0007373	HP:0007373	Motor neuron atrophy	0	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19		15
HP:0007373	HP:0007373	Motor neuron atrophy	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0007373	HP:0007373	Motor neuron atrophy	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0007373	HP:0007373	Motor neuron atrophy	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0007373	HP:0007373	Motor neuron atrophy	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	111
HP:0007373	HP:0007373	Motor neuron atrophy	0	FIG4 CL E G H	9896	16873	OMIM:612577	Amyotrophic lateral sclerosis 11		111
HP:0007373	HP:0007373	Motor neuron atrophy	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	105
HP:0007373	HP:0007373	Motor neuron atrophy	0	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia		105
HP:0007373	HP:0007373	Motor neuron atrophy	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0007373	HP:0007373	Motor neuron atrophy	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	45
HP:0007373	HP:0007373	Motor neuron atrophy	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0007373	HP:0007373	Motor neuron atrophy	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	31
HP:0007373	HP:0007373	Motor neuron atrophy	0	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20		31
HP:0007373	HP:0007373	Motor neuron atrophy	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		31
HP:0007373	HP:0007373	Motor neuron atrophy	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		5
HP:0007373	HP:0007373	Motor neuron atrophy	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0007373	HP:0007373	Motor neuron atrophy	0	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25		93
HP:0007373	HP:0007373	Motor neuron atrophy	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia		140
HP:0007373	HP:0007373	Motor neuron atrophy	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	80
HP:0007373	HP:0007373	Motor neuron atrophy	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0007373	HP:0007373	Motor neuron atrophy	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0007373	HP:0007373	Motor neuron atrophy	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	24
HP:0007373	HP:0007373	Motor neuron atrophy	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1		24
HP:0007373	HP:0007373	Motor neuron atrophy	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	101
HP:0007373	HP:0007373	Motor neuron atrophy	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0007373	HP:0007373	Motor neuron atrophy	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	62
HP:0007373	HP:0007373	Motor neuron atrophy	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0007373	HP:0007373	Motor neuron atrophy	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	6
HP:0007373	HP:0007373	Motor neuron atrophy	0	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18		6
HP:0007373	HP:0007373	Motor neuron atrophy	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	4
HP:0007373	HP:0007373	Motor neuron atrophy	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	2
HP:0007373	HP:0007373	Motor neuron atrophy	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	1
HP:0007373	HP:0007373	Motor neuron atrophy	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	1
HP:0007373	HP:0007373	Motor neuron atrophy	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	25
HP:0007373	HP:0007373	Motor neuron atrophy	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1		25
HP:0007373	HP:0007373	Motor neuron atrophy	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia		241
HP:0007373	HP:0007373	Motor neuron atrophy	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0007373	HP:0007373	Motor neuron atrophy	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0007373	HP:0007373	Motor neuron atrophy	0	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile		6
HP:0007373	HP:0007373	Motor neuron atrophy	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0007373	HP:0007373	Motor neuron atrophy	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0007373	HP:0007373	Motor neuron atrophy	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II		22
HP:0007373	HP:0007373	Motor neuron atrophy	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0007373	HP:0007373	Motor neuron atrophy	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0007373	HP:0007373	Motor neuron atrophy	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0007373	HP:0007373	Motor neuron atrophy	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	53
HP:0007373	HP:0007373	Motor neuron atrophy	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1		53
HP:0007373	HP:0007373	Motor neuron atrophy	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0007373	HP:0007373	Motor neuron atrophy	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0007373	HP:0007373	Motor neuron atrophy	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0007373	HP:0007373	Motor neuron atrophy	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	62
HP:0007373	HP:0007373	Motor neuron atrophy	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3		62
HP:0007373	HP:0007373	Motor neuron atrophy	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0007373	HP:0007373	Motor neuron atrophy	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	65
HP:0007373	HP:0007373	Motor neuron atrophy	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia		65
HP:0007373	HP:0007373	Motor neuron atrophy	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	20
HP:0007373	HP:0007373	Motor neuron atrophy	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4		20
HP:0007373	HP:0007373	Motor neuron atrophy	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type		18
HP:0007373	HP:0007373	Motor neuron atrophy	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0007373	HP:0007373	Motor neuron atrophy	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	31
HP:0007373	HP:0007373	Motor neuron atrophy	0	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1		2
HP:0007373	HP:0007373	Motor neuron atrophy	0	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia		6
HP:0007373	HP:0007373	Motor neuron atrophy	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy		35
HP:0007373	HP:0007373	Motor neuron atrophy	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0007373	HP:0007373	Motor neuron atrophy	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	20
HP:0007373	HP:0007373	Motor neuron atrophy	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia		20
HP:0007373	HP:0007373	Motor neuron atrophy	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	1
HP:0007373	HP:0007373	Motor neuron atrophy	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	116
HP:0007373	HP:0007373	Motor neuron atrophy	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0007373	HP:0007373	Motor neuron atrophy	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	63
HP:0007373	HP:0007373	Motor neuron atrophy	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0007373	HP:0007373	Motor neuron atrophy	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		63
HP:0007373	HP:0007373	Motor neuron atrophy	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0007373	HP:0007373	Motor neuron atrophy	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	114
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	32
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9	.	32
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23	.
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	11
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	56
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy	HP:0040282 - Frequent
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	11
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.	11
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	42
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy	HP:0040282 - Frequent
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	86
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.	86
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	4
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	15
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19	.	15
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	111
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	FIG4 CL E G H	9896	16873	OMIM:612577	Amyotrophic lateral sclerosis 11		111
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	105
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	.	105
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	105
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	45
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	31
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	HNRNPA1 CL E G H	3178	5031	OMIM:615426	Amyotrophic lateral sclerosis 20	.	31
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25	.	93
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.	140
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	80
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	24
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1		24
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.	24
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	101
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	62
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12	.	62
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	6
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18		6
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	4
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	2
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	1
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	1
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	25
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.	25
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1		25
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.	241
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.	6
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	6
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.	22
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	53
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1		53
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.	53
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	287
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent	54
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	62
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.	62
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	65
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.	65
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	20
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.	20
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	31
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.	2
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	TUBA4A CL E G H	7277	12407	OMIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	.	6
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040281 - Very frequent	35
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	20
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	HP:0040280 - Obligate	20
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	1
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	116
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8	.	116
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040280 - Obligate	63
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0007373	HP:0007354	Amyotrophic lateral sclerosis	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0007373	HP:0002398	Degeneration of anterior horn cells	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32