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:0002200	HP:0002200	Pseudobulbar signs	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset		72
HP:0002200	HP:0002200	Pseudobulbar signs	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0002200	HP:0002200	Pseudobulbar signs	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040284 - Very rare
HP:0002200	HP:0002200	Pseudobulbar signs	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0002200	HP:0002200	Pseudobulbar signs	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0002200	HP:0002200	Pseudobulbar signs	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis		114
HP:0002200	HP:0002200	Pseudobulbar signs	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis		114
HP:0002200	HP:0002200	Pseudobulbar signs	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0002200	HP:0002200	Pseudobulbar signs	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0002200	HP:0002200	Pseudobulbar signs	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040284 - Very rare	48
HP:0002200	HP:0002200	Pseudobulbar signs	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0002200	HP:0002200	Pseudobulbar signs	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0002200	HP:0002200	Pseudobulbar signs	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0002200	HP:0002200	Pseudobulbar signs	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0002200	HP:0002200	Pseudobulbar signs	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis		18
HP:0002200	HP:0002200	Pseudobulbar signs	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0002200	HP:0002200	Pseudobulbar signs	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria		111
HP:0002200	HP:0002200	Pseudobulbar signs	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040283 - Occasional	69
HP:0002200	HP:0002200	Pseudobulbar signs	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0002200	HP:0002200	Pseudobulbar signs	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34
HP:0002200	HP:0002200	Pseudobulbar signs	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0002200	HP:0002200	Pseudobulbar signs	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0002200	HP:0002200	Pseudobulbar signs	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0002200	HP:0002200	Pseudobulbar signs	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1		24
HP:0002200	HP:0002200	Pseudobulbar signs	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0002200	HP:0002200	Pseudobulbar signs	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0002200	HP:0002200	Pseudobulbar signs	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0002200	HP:0002200	Pseudobulbar signs	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1		25
HP:0002200	HP:0002200	Pseudobulbar signs	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome		1
HP:0002200	HP:0002200	Pseudobulbar signs	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0002200	HP:0002200	Pseudobulbar signs	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0002200	HP:0002200	Pseudobulbar signs	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1		53
HP:0002200	HP:0002200	Pseudobulbar signs	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040282 - Frequent	171
HP:0002200	HP:0002200	Pseudobulbar signs	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0002200	HP:0002200	Pseudobulbar signs	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0002200	HP:0002200	Pseudobulbar signs	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35		58
HP:0002200	HP:0002200	Pseudobulbar signs	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset		72
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	HP:0040283 - Occasional	89
HP:0002200	HP:0002193	Pseudobulbar behavioral symptoms	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0002200	HP:0002193	Pseudobulbar behavioral symptoms	1	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040282 - Frequent	114
HP:0002200	HP:0002193	Pseudobulbar behavioral symptoms	1	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	114
HP:0002200	HP:0002193	Pseudobulbar behavioral symptoms	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040283 - Occasional	25
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.	114
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.	86
HP:0002200	HP:0002193	Pseudobulbar behavioral symptoms	1	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	18
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional	111
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.	24
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.	144
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.	25
HP:0002200	HP:0002193	Pseudobulbar behavioral symptoms	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.	53
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040283 - Occasional	58
HP:0002200	HP:0007024	Pseudobulbar paralysis	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189