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:0002483	HP:0002483	Bulbar signs	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0002483	HP:0002483	Bulbar signs	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	114
HP:0002483	HP:0002483	Bulbar signs	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0002483	HP:0002483	Bulbar signs	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0002483	HP:0002483	Bulbar signs	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0002483	HP:0002483	Bulbar signs	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0002483	HP:0002483	Bulbar signs	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002483	HP:0002483	Bulbar signs	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent	19
HP:0002483	HP:0002483	Bulbar signs	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0002483	HP:0002483	Bulbar signs	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040284 - Very rare	11
HP:0002483	HP:0002483	Bulbar signs	0	FIG4 CL E G H	9896	16873	OMIM:612577	Amyotrophic lateral sclerosis 11	.	111
HP:0002483	HP:0002483	Bulbar signs	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0002483	HP:0002483	Bulbar signs	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0002483	HP:0002483	Bulbar signs	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.	188
HP:0002483	HP:0002483	Bulbar signs	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040284 - Very rare	53
HP:0002483	HP:0002483	Bulbar signs	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0002483	HP:0002483	Bulbar signs	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0002483	HP:0002483	Bulbar signs	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0002483	HP:0002483	Bulbar signs	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0002483	HP:0002483	Bulbar signs	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002483	HP:0002483	Bulbar signs	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002483	HP:0002483	Bulbar signs	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002483	HP:0002483	Bulbar signs	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002483	HP:0002483	Bulbar signs	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002483	HP:0002483	Bulbar signs	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002483	HP:0002483	Bulbar signs	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0002483	HP:0002483	Bulbar signs	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24		101
HP:0002483	HP:0002483	Bulbar signs	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0002483	HP:0002483	Bulbar signs	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0002483	HP:0002483	Bulbar signs	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040283 - Occasional	3
HP:0002483	HP:0002483	Bulbar signs	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0002483	HP:0002483	Bulbar signs	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040283 - Occasional	87
HP:0002483	HP:0002483	Bulbar signs	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040283 - Occasional	1200
HP:0002483	HP:0002483	Bulbar signs	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0002483	HP:0002483	Bulbar signs	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0002483	HP:0002483	Bulbar signs	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0002483	HP:0002483	Bulbar signs	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0002483	HP:0002483	Bulbar signs	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	287
HP:0002483	HP:0002483	Bulbar signs	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	54
HP:0002483	HP:0002483	Bulbar signs	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040282 - Frequent	18
HP:0002483	HP:0002483	Bulbar signs	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0002483	HP:0002483	Bulbar signs	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0002483	HP:0002483	Bulbar signs	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002483	HP:0002483	Bulbar signs	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002483	HP:0002483	Bulbar signs	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002483	HP:0002483	Bulbar signs	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002483	HP:0002483	Bulbar signs	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116