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:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1		24
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1		25
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II		22
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1		53
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type		18
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040281 - Very frequent	35
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0006802	HP:0006802	Abnormal anterior horn cell morphology	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	ANXA11 CL E G H	311	535	OMIM:617839	Amyotrophic lateral sclerosis 23
HP:0006802	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:0006802	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:0006802	HP:0002398	Degeneration of anterior horn cells	1	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy	HP:0040282 - Frequent
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy	HP:0040282 - Frequent
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.	86
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0006802	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:0006802	HP:0002398	Degeneration of anterior horn cells	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.	24
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.	25
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.	22
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.	53
HP:0006802	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:0006802	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:0006802	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:0006802	HP:0002398	Degeneration of anterior horn cells	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0006802	HP:0002398	Degeneration of anterior horn cells	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32