Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal synaptic transmission (HP:0012535)

Parent Node:
Abnormal peripheral nervous system synaptic transmission (HP:0030191)

..Starting node
..Abnormal synaptic transmission at the neuromuscular junction (HP:0003398)

Term ID:

3398

Name:

Abnormal synaptic transmission at the neuromuscular junction

Synonym:

Abnormality of neuromuscular transmission

Definition:

Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.

Comments:

Reference:

HP:0003398

Genes and Diseases:

Child Nodes:

........

Generalized hypotonia due to defect at the neuromuscular junction (HP:0003397)

........

Decreased miniature endplate potentials (HP:0003402)

........

Prolonged miniature endplate currents (HP:0003436)

........

Fatigable weakness (HP:0003473)

................... HP:0030192 Fatigable weakness of bulbar muscles
................... HP:0030196 Fatigable weakness of respiratory muscles
................... HP:0030197 Fatigable weakness of skeletal muscles

Sister Nodes:

Response to drugs acting on neuromuscular transmission (HP:0030201)

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:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15		12
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14		46
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis		32
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis		11
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis		56
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy		5
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia		272
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic		65
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis		11
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis		42
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel		139
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5		90
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	90
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis		86
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy		263
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis		4
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis		15
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis		111
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis		105
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1		128
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis		45
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19		34
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia		16
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis		31
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis		73
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	92
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis		80
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis		24
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis		101
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis		62
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy		19
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis		6
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis		4
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis		2
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis		1
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis		1
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis		25
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		3
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		125
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset		1200
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis		263
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16		263
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis		7
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic		9
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18		2
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis		53
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis		62
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy		31
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis		65
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis		20
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type		18
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis		31
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis		20
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis		1
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis		116
HP:0003398	HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis		63
HP:0003398	HP:0003473	Fatigable weakness	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0003398	HP:0003473	Fatigable weakness	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	197
HP:0003398	HP:0003473	Fatigable weakness	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0003398	HP:0003473	Fatigable weakness	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0003398	HP:0003473	Fatigable weakness	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0003398	HP:0003473	Fatigable weakness	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0003398	HP:0003473	Fatigable weakness	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	127
HP:0003398	HP:0003473	Fatigable weakness	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0003398	HP:0003473	Fatigable weakness	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0003398	HP:0003473	Fatigable weakness	1	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15		12
HP:0003398	HP:0003473	Fatigable weakness	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0003398	HP:0003473	Fatigable weakness	1	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	.	46
HP:0003398	HP:0003473	Fatigable weakness	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis		32
HP:0003398	HP:0003473	Fatigable weakness	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0003398	HP:0003473	Fatigable weakness	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0003398	HP:0003473	Fatigable weakness	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis		11
HP:0003398	HP:0003473	Fatigable weakness	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0003398	HP:0003473	Fatigable weakness	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis		56
HP:0003398	HP:0003473	Fatigable weakness	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0003398	HP:0003473	Fatigable weakness	1	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	5
HP:0003398	HP:0003473	Fatigable weakness	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent	272
HP:0003398	HP:0003473	Fatigable weakness	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0003398	HP:0003473	Fatigable weakness	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0003398	HP:0003473	Fatigable weakness	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0003398	HP:0003473	Fatigable weakness	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0003398	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0003398	HP:0003473	Fatigable weakness	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0003398	HP:0003473	Fatigable weakness	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	65
HP:0003398	HP:0003473	Fatigable weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis		11
HP:0003398	HP:0003473	Fatigable weakness	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis		42
HP:0003398	HP:0003436	Prolonged miniature endplate currents	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.	74
HP:0003398	HP:0003473	Fatigable weakness	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.	74
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0003398	HP:0003473	Fatigable weakness	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0003398	HP:0003473	Fatigable weakness	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0003398	HP:0003473	Fatigable weakness	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0003398	HP:0003436	Prolonged miniature endplate currents	1	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0003398	HP:0003473	Fatigable weakness	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0003398	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0003398	HP:0003473	Fatigable weakness	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0003398	HP:0003473	Fatigable weakness	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0003398	HP:0003473	Fatigable weakness	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0003398	HP:0003473	Fatigable weakness	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0003398	HP:0003473	Fatigable weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0003398	HP:0003473	Fatigable weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	6
HP:0003398	HP:0003436	Prolonged miniature endplate currents	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0003398	HP:0003473	Fatigable weakness	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0003398	HP:0003436	Prolonged miniature endplate currents	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	90
HP:0003398	HP:0003473	Fatigable weakness	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0003398	HP:0003473	Fatigable weakness	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0003398	HP:0003473	Fatigable weakness	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0003398	HP:0003473	Fatigable weakness	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis		86
HP:0003398	HP:0003473	Fatigable weakness	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy		263
HP:0003398	HP:0003473	Fatigable weakness	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0003398	HP:0003473	Fatigable weakness	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.	91
HP:0003398	HP:0003473	Fatigable weakness	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0003398	HP:0003473	Fatigable weakness	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0003398	HP:0003473	Fatigable weakness	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0003398	HP:0003473	Fatigable weakness	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis		4
HP:0003398	HP:0003473	Fatigable weakness	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis		15
HP:0003398	HP:0003473	Fatigable weakness	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis		111
HP:0003398	HP:0003473	Fatigable weakness	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0003398	HP:0003473	Fatigable weakness	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0003398	HP:0003473	Fatigable weakness	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis		105
HP:0003398	HP:0003473	Fatigable weakness	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0003398	HP:0003473	Fatigable weakness	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0003398	HP:0003473	Fatigable weakness	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0003398	HP:0003473	Fatigable weakness	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0003398	HP:0003473	Fatigable weakness	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis		45
HP:0003398	HP:0003473	Fatigable weakness	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0003398	HP:0003473	Fatigable weakness	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0003398	HP:0003473	Fatigable weakness	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34
HP:0003398	HP:0003473	Fatigable weakness	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19		34
HP:0003398	HP:0003473	Fatigable weakness	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent	16
HP:0003398	HP:0003473	Fatigable weakness	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0003398	HP:0003473	Fatigable weakness	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0003398	HP:0003473	Fatigable weakness	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis		31
HP:0003398	HP:0003473	Fatigable weakness	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0003398	HP:0003473	Fatigable weakness	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0003398	HP:0003473	Fatigable weakness	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis		73
HP:0003398	HP:0003473	Fatigable weakness	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0003398	HP:0003473	Fatigable weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0003398	HP:0003473	Fatigable weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0003398	HP:0003436	Prolonged miniature endplate currents	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	92
HP:0003398	HP:0003473	Fatigable weakness	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0003398	HP:0003473	Fatigable weakness	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0003398	HP:0003473	Fatigable weakness	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0003398	HP:0003473	Fatigable weakness	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0003398	HP:0003473	Fatigable weakness	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0003398	HP:0003473	Fatigable weakness	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0003398	HP:0003473	Fatigable weakness	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis		80
HP:0003398	HP:0003473	Fatigable weakness	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0003398	HP:0003473	Fatigable weakness	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0003398	HP:0003473	Fatigable weakness	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0003398	HP:0003473	Fatigable weakness	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0003398	HP:0003473	Fatigable weakness	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0003398	HP:0003473	Fatigable weakness	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0003398	HP:0003473	Fatigable weakness	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0003398	HP:0003473	Fatigable weakness	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0003398	HP:0003473	Fatigable weakness	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0003398	HP:0003473	Fatigable weakness	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis		24
HP:0003398	HP:0003473	Fatigable weakness	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis		101
HP:0003398	HP:0003473	Fatigable weakness	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0003398	HP:0003473	Fatigable weakness	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0003398	HP:0003473	Fatigable weakness	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0003398	HP:0003473	Fatigable weakness	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis		62
HP:0003398	HP:0003473	Fatigable weakness	1	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	19
HP:0003398	HP:0003473	Fatigable weakness	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis		6
HP:0003398	HP:0003473	Fatigable weakness	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040283 - Occasional	759
HP:0003398	HP:0003473	Fatigable weakness	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0003398	HP:0003473	Fatigable weakness	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0003398	HP:0003473	Fatigable weakness	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0003398	HP:0003473	Fatigable weakness	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis		4
HP:0003398	HP:0003473	Fatigable weakness	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis		2
HP:0003398	HP:0003473	Fatigable weakness	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis		1
HP:0003398	HP:0003473	Fatigable weakness	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis		1
HP:0003398	HP:0003473	Fatigable weakness	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis		25
HP:0003398	HP:0003473	Fatigable weakness	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0003398	HP:0003473	Fatigable weakness	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		3
HP:0003398	HP:0003473	Fatigable weakness	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		125
HP:0003398	HP:0003473	Fatigable weakness	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040281 - Very frequent	1200
HP:0003398	HP:0003473	Fatigable weakness	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis		263
HP:0003398	HP:0003473	Fatigable weakness	1	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16	.	263
HP:0003398	HP:0003402	Decreased miniature endplate potentials	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0003398	HP:0003473	Fatigable weakness	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0003398	HP:0003473	Fatigable weakness	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0003398	HP:0003473	Fatigable weakness	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0003398	HP:0003473	Fatigable weakness	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0003398	HP:0003473	Fatigable weakness	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	28
HP:0003398	HP:0003473	Fatigable weakness	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional	7
HP:0003398	HP:0003473	Fatigable weakness	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic		9
HP:0003398	HP:0003473	Fatigable weakness	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	9
HP:0003398	HP:0003473	Fatigable weakness	1	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18		2
HP:0003398	HP:0003473	Fatigable weakness	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0003398	HP:0003473	Fatigable weakness	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis		53
HP:0003398	HP:0003473	Fatigable weakness	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis		62
HP:0003398	HP:0003473	Fatigable weakness	1	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	31
HP:0003398	HP:0003473	Fatigable weakness	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0003398	HP:0003473	Fatigable weakness	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	4
HP:0003398	HP:0003473	Fatigable weakness	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0003398	HP:0003473	Fatigable weakness	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis		65
HP:0003398	HP:0003473	Fatigable weakness	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis		20
HP:0003398	HP:0003473	Fatigable weakness	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type		18
HP:0003398	HP:0003473	Fatigable weakness	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0003398	HP:0003473	Fatigable weakness	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0003398	HP:0003473	Fatigable weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0003398	HP:0003473	Fatigable weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0003398	HP:0003473	Fatigable weakness	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0003398	HP:0003473	Fatigable weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0003398	HP:0003473	Fatigable weakness	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0003398	HP:0003473	Fatigable weakness	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0003398	HP:0003473	Fatigable weakness	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0003398	HP:0003473	Fatigable weakness	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis		31
HP:0003398	HP:0003473	Fatigable weakness	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis		20
HP:0003398	HP:0003473	Fatigable weakness	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis		1
HP:0003398	HP:0003473	Fatigable weakness	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0003398	HP:0003473	Fatigable weakness	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0003398	HP:0003473	Fatigable weakness	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	2
HP:0003398	HP:0003473	Fatigable weakness	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis		116
HP:0003398	HP:0003473	Fatigable weakness	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis		63
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	96
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	32
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	32
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	56
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	56
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare	247
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy		5
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	42
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	42
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	86
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	86
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional	263
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040282 - Frequent	263
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	15
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	15
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	111
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	111
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	157
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	45
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	45
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	34
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional	34
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	127
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare	73
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	136
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	80
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	80
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	3
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	131
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	24
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	24
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	101
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	101
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy		19
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	213
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	221
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040282 - Frequent	221
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	2
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	2
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	25
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	25
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent	3
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent	125
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare	263
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	144
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	53
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	53
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy		31
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	65
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	65
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type		18
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	6
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	54
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	108
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0003398	HP:0030197	Fatigable weakness of skeletal muscles	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	116
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	116
HP:0003398	HP:0030196	Fatigable weakness of respiratory muscles	2	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	63
HP:0003398	HP:0030192	Fatigable weakness of bulbar muscles	2	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	63
HP:0003398	HP:0030193	Fatigable weakness of chewing muscles	3	CL E G H
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	197
HP:0003398	HP:0030198	Fatigable weakness of distal limb muscles	3	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	96
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	32
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	56
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	5
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0003398	HP:0030198	Fatigable weakness of distal limb muscles	3	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	35
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	42
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	86
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	15
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	111
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040283 - Occasional	197
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	45
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030198	Fatigable weakness of distal limb muscles	3	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent	12
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0003398	HP:0030198	Fatigable weakness of distal limb muscles	3	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	13
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0003398	HP:0030198	Fatigable weakness of distal limb muscles	3	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040282 - Frequent	286
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0003398	HP:0030198	Fatigable weakness of distal limb muscles	3	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	11
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	80
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0003398	HP:0030198	Fatigable weakness of distal limb muscles	3	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	745
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	24
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	101
HP:0003398	HP:0030194	Fatigable weakness of speech muscles	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	19
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	2
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	25
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0003398	HP:0030199	Fatigable weakness of neck muscles	3	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	53
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	31
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	65
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040281 - Very frequent	18
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0003398	HP:0030198	Fatigable weakness of distal limb muscles	3	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	54
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0003398	HP:0030200	Fatiguable weakness of proximal limb muscles	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	116
HP:0003398	HP:0030195	Fatigable weakness of swallowing muscles	3	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	63

Genes (121) :ACAD9 ACADM ACTA1 AGRN AK9 ALG14 ALG2 ANG ANXA11 ATRX ATXN2 BRAF C9ORF72 CACNA1S CASQ1 CASR CCNF CDH23 CFAP410 CFL2 CHAT CHCHD10 CHMP2B CHRNA1 CHRNB1 CHRND CHRNE COA8 COL13A1 COLQ COX1 COX3 DAO DCTN1 DES DKK1 DOK7 DPAGT1 EPHA4 ERBB4 FIG4 FKRP FLNC FUS GFPT1 GIPC1 GLE1 GLT8D1 GMPPB GNA11 HACD1 HINT1 HNRNPA1 ITGA7 KBTBD13 KCNE3 KCNK9 KLHL41 LAMB2 LARGE1 LDB3 LMOD3 LPIN1 LRP4 MAP3K20 MATR3 MINPP1 MTM1 MUSK MYL2 MYO9A MYPN NEB NEFH NEK1 NGLY1 NOTCH2NLC NR3C1 OPTN ORAI1 PFN1 PLEC POMT1 POMT2 PON1 PON2 PON3 PPARGC1A PRPH RAPSN RNASEH1 RRM2B RYR1 SCN4A SELENON SLC18A3 SLC25A1 SLC34A2 SLC5A7 SNAP25 SOD1 SQSTM1 STIM1 SYNE1 SYT2 TAF15 TARDBP TBK1 TFG TOE1 TP53 TPM2 TPM3 TREM2 UBQLN2 UNC13A USP48 USP8 VAMP1 VAPB VCP

Diseases (53) :ORPHA:99901 ORPHA:42 ORPHA:171439 ORPHA:2020 ORPHA:171436 ORPHA:98913 ORPHA:98914 ORPHA:353327 OMIM:616227 OMIM:616228 ORPHA:803 ORPHA:96253 ORPHA:681 ORPHA:2593 ORPHA:428 OMIM:254210 OMIM:601462 OMIM:608930 OMIM:616313 OMIM:616321 OMIM:605809 OMIM:608931 ORPHA:436271 OMIM:603034 ORPHA:98915 ORPHA:99845 ORPHA:98909 ORPHA:268882 OMIM:254300 OMIM:614750 ORPHA:370968 ORPHA:63273 OMIM:610542 ORPHA:98897 ORPHA:363623 ORPHA:324442 ORPHA:166108 ORPHA:98912 ORPHA:284339 ORPHA:596 ORPHA:171881 ORPHA:404454 ORPHA:257 ORPHA:206559 ORPHA:329336 ORPHA:424107 OMIM:614198 OMIM:618197 ORPHA:60025 OMIM:617143 OMIM:616330 ORPHA:319332 ORPHA:90117

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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