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:0001283	HP:0001283	Bulbar palsy	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0001283	HP:0001283	Bulbar palsy	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0001283	HP:0001283	Bulbar palsy	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0001283	HP:0001283	Bulbar palsy	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0001283	HP:0001283	Bulbar palsy	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0001283	HP:0001283	Bulbar palsy	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0001283	HP:0001283	Bulbar palsy	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0001283	HP:0001283	Bulbar palsy	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0001283	HP:0001283	Bulbar palsy	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	56
HP:0001283	HP:0001283	Bulbar palsy	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0001283	HP:0001283	Bulbar palsy	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	65
HP:0001283	HP:0001283	Bulbar palsy	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.	11
HP:0001283	HP:0001283	Bulbar palsy	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	11
HP:0001283	HP:0001283	Bulbar palsy	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0001283	HP:0001283	Bulbar palsy	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0001283	HP:0001283	Bulbar palsy	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.	6
HP:0001283	HP:0001283	Bulbar palsy	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0001283	HP:0001283	Bulbar palsy	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.	263
HP:0001283	HP:0001283	Bulbar palsy	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	HP:0040283 - Occasional	103
HP:0001283	HP:0001283	Bulbar palsy	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.	91
HP:0001283	HP:0001283	Bulbar palsy	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	105
HP:0001283	HP:0001283	Bulbar palsy	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0001283	HP:0001283	Bulbar palsy	0	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type	.	53
HP:0001283	HP:0001283	Bulbar palsy	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0001283	HP:0001283	Bulbar palsy	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.	11
HP:0001283	HP:0001283	Bulbar palsy	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0001283	HP:0001283	Bulbar palsy	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0001283	HP:0001283	Bulbar palsy	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0001283	HP:0001283	Bulbar palsy	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0001283	HP:0001283	Bulbar palsy	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0001283	HP:0001283	Bulbar palsy	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0001283	HP:0001283	Bulbar palsy	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0001283	HP:0001283	Bulbar palsy	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.	3
HP:0001283	HP:0001283	Bulbar palsy	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0001283	HP:0001283	Bulbar palsy	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0001283	HP:0001283	Bulbar palsy	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0001283	HP:0001283	Bulbar palsy	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0001283	HP:0001283	Bulbar palsy	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0001283	HP:0001283	Bulbar palsy	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	28
HP:0001283	HP:0001283	Bulbar palsy	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0001283	HP:0001283	Bulbar palsy	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0001283	HP:0001283	Bulbar palsy	0	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.	51
HP:0001283	HP:0001283	Bulbar palsy	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.	9
HP:0001283	HP:0001283	Bulbar palsy	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	9
HP:0001283	HP:0001283	Bulbar palsy	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0001283	HP:0001283	Bulbar palsy	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.	62
HP:0001283	HP:0001283	Bulbar palsy	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	62
HP:0001283	HP:0001283	Bulbar palsy	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	4
HP:0001283	HP:0001283	Bulbar palsy	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	65
HP:0001283	HP:0001283	Bulbar palsy	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.	20
HP:0001283	HP:0001283	Bulbar palsy	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	20
HP:0001283	HP:0001283	Bulbar palsy	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0001283	HP:0001283	Bulbar palsy	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional	103
HP:0001283	HP:0001283	Bulbar palsy	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0001283	HP:0001283	Bulbar palsy	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0001283	HP:0001283	Bulbar palsy	0	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.	2
HP:0001283	HP:0001283	Bulbar palsy	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0001283	HP:0001283	Bulbar palsy	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	63