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:0003457	HP:0003457	EMG abnormality	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	254
HP:0003457	HP:0003457	EMG abnormality	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0003457	HP:0003457	EMG abnormality	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0003457	HP:0003457	EMG abnormality	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0003457	HP:0003457	EMG abnormality	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0003457	HP:0003457	EMG abnormality	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0003457	HP:0003457	EMG abnormality	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0003457	HP:0003457	EMG abnormality	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	208
HP:0003457	HP:0003457	EMG abnormality	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	307
HP:0003457	HP:0003457	EMG abnormality	0	ADCY6 CL E G H	112	237	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent	2
HP:0003457	HP:0003457	EMG abnormality	0	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8		127
HP:0003457	HP:0003457	EMG abnormality	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0003457	HP:0003457	EMG abnormality	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0003457	HP:0003457	EMG abnormality	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0003457	HP:0003457	EMG abnormality	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency		50
HP:0003457	HP:0003457	EMG abnormality	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0003457	HP:0003457	EMG abnormality	0	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15		12
HP:0003457	HP:0003457	EMG abnormality	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0003457	HP:0003457	EMG abnormality	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0003457	HP:0003457	EMG abnormality	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0003457	HP:0003457	EMG abnormality	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	95
HP:0003457	HP:0003457	EMG abnormality	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0003457	HP:0003457	EMG abnormality	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0003457	HP:0003457	EMG abnormality	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0003457	HP:0003457	EMG abnormality	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003457	HP:0003457	EMG abnormality	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0003457	HP:0003457	EMG abnormality	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0003457	HP:0003457	EMG abnormality	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0003457	HP:0003457	EMG abnormality	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0003457	HP:0003457	EMG abnormality	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0003457	HP:0003457	EMG abnormality	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0003457	HP:0003457	EMG abnormality	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0003457	HP:0003457	EMG abnormality	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0003457	HP:0003457	EMG abnormality	0	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3		192
HP:0003457	HP:0003457	EMG abnormality	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0003457	HP:0003457	EMG abnormality	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0003457	HP:0003457	EMG abnormality	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	43
HP:0003457	HP:0003457	EMG abnormality	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	204
HP:0003457	HP:0003457	EMG abnormality	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6		204
HP:0003457	HP:0003457	EMG abnormality	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0003457	HP:0003457	EMG abnormality	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0003457	HP:0003457	EMG abnormality	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0003457	HP:0003457	EMG abnormality	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0003457	HP:0003457	EMG abnormality	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0003457	HP:0003457	EMG abnormality	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	247
HP:0003457	HP:0003457	EMG abnormality	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0003457	HP:0003457	EMG abnormality	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0003457	HP:0003457	EMG abnormality	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy		5
HP:0003457	HP:0003457	EMG abnormality	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent	272
HP:0003457	HP:0003457	EMG abnormality	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0003457	HP:0003457	EMG abnormality	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0003457	HP:0003457	EMG abnormality	0	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease	.	148
HP:0003457	HP:0003457	EMG abnormality	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0003457	HP:0003457	EMG abnormality	0	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic		65
HP:0003457	HP:0003457	EMG abnormality	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0003457	HP:0003457	EMG abnormality	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0003457	HP:0003457	EMG abnormality	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0003457	HP:0003457	EMG abnormality	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0003457	HP:0003457	EMG abnormality	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0003457	HP:0003457	EMG abnormality	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0003457	HP:0003457	EMG abnormality	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0003457	HP:0003457	EMG abnormality	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0003457	HP:0003457	EMG abnormality	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel		139
HP:0003457	HP:0003457	EMG abnormality	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0003457	HP:0003457	EMG abnormality	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0003457	HP:0003457	EMG abnormality	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0003457	HP:0003457	EMG abnormality	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0003457	HP:0003457	EMG abnormality	0	CLCN1 CL E G H	1180	2019	ORPHA:614	Thomsen and Becker disease	HP:0040281 - Very frequent	133
HP:0003457	HP:0003457	EMG abnormality	0	CNTNAP1 CL E G H	8506	8011	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent	9
HP:0003457	HP:0003457	EMG abnormality	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0003457	HP:0003457	EMG abnormality	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		65
HP:0003457	HP:0003457	EMG abnormality	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0003457	HP:0003457	EMG abnormality	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0003457	HP:0003457	EMG abnormality	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita		3
HP:0003457	HP:0003457	EMG abnormality	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0003457	HP:0003457	EMG abnormality	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		442
HP:0003457	HP:0003457	EMG abnormality	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0003457	HP:0003457	EMG abnormality	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		478
HP:0003457	HP:0003457	EMG abnormality	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0003457	HP:0003457	EMG abnormality	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		702
HP:0003457	HP:0003457	EMG abnormality	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5		90
HP:0003457	HP:0003457	EMG abnormality	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0003457	HP:0003457	EMG abnormality	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040283 - Occasional	136
HP:0003457	HP:0003457	EMG abnormality	0	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1
HP:0003457	HP:0003457	EMG abnormality	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0003457	HP:0003457	EMG abnormality	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0003457	HP:0003457	EMG abnormality	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	46
HP:0003457	HP:0003457	EMG abnormality	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2		46
HP:0003457	HP:0003457	EMG abnormality	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	104
HP:0003457	HP:0003457	EMG abnormality	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0003457	HP:0003457	EMG abnormality	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant		2
HP:0003457	HP:0003457	EMG abnormality	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	263
HP:0003457	HP:0003457	EMG abnormality	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0003457	HP:0003457	EMG abnormality	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003457	HP:0003457	EMG abnormality	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0003457	HP:0003457	EMG abnormality	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0003457	HP:0003457	EMG abnormality	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1496
HP:0003457	HP:0003457	EMG abnormality	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome		3
HP:0003457	HP:0003457	EMG abnormality	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0003457	HP:0003457	EMG abnormality	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0003457	HP:0003457	EMG abnormality	0	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	79
HP:0003457	HP:0003457	EMG abnormality	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0003457	HP:0003457	EMG abnormality	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	55
HP:0003457	HP:0003457	EMG abnormality	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0003457	HP:0003457	EMG abnormality	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0003457	HP:0003457	EMG abnormality	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	358
HP:0003457	HP:0003457	EMG abnormality	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	747
HP:0003457	HP:0003457	EMG abnormality	0	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0003457	HP:0003457	EMG abnormality	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0003457	HP:0003457	EMG abnormality	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent	133
HP:0003457	HP:0003457	EMG abnormality	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0003457	HP:0003457	EMG abnormality	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003457	HP:0003457	EMG abnormality	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0003457	HP:0003457	EMG abnormality	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0003457	HP:0003457	EMG abnormality	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0003457	HP:0003457	EMG abnormality	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0003457	HP:0003457	EMG abnormality	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0003457	HP:0003457	EMG abnormality	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	36
HP:0003457	HP:0003457	EMG abnormality	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0003457	HP:0003457	EMG abnormality	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	157
HP:0003457	HP:0003457	EMG abnormality	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0003457	HP:0003457	EMG abnormality	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0003457	HP:0003457	EMG abnormality	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040281 - Very frequent	184
HP:0003457	HP:0003457	EMG abnormality	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	184
HP:0003457	HP:0003457	EMG abnormality	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	184
HP:0003457	HP:0003457	EMG abnormality	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0003457	HP:0003457	EMG abnormality	0	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	1
HP:0003457	HP:0003457	EMG abnormality	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0003457	HP:0003457	EMG abnormality	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0003457	HP:0003457	EMG abnormality	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	35
HP:0003457	HP:0003457	EMG abnormality	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040283 - Occasional	86
HP:0003457	HP:0003457	EMG abnormality	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003457	HP:0003457	EMG abnormality	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0003457	HP:0003457	EMG abnormality	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A		108
HP:0003457	HP:0003457	EMG abnormality	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0003457	HP:0003457	EMG abnormality	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0003457	HP:0003457	EMG abnormality	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1		128
HP:0003457	HP:0003457	EMG abnormality	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0003457	HP:0003457	EMG abnormality	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0003457	HP:0003457	EMG abnormality	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0003457	HP:0003457	EMG abnormality	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0003457	HP:0003457	EMG abnormality	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19		34
HP:0003457	HP:0003457	EMG abnormality	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	34
HP:0003457	HP:0003457	EMG abnormality	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent	16
HP:0003457	HP:0003457	EMG abnormality	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0003457	HP:0003457	EMG abnormality	0	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy		173
HP:0003457	HP:0003457	EMG abnormality	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0003457	HP:0003457	EMG abnormality	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	2
HP:0003457	HP:0003457	EMG abnormality	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0003457	HP:0003457	EMG abnormality	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		31
HP:0003457	HP:0003457	EMG abnormality	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		5
HP:0003457	HP:0003457	EMG abnormality	0	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F		47
HP:0003457	HP:0003457	EMG abnormality	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB		47
HP:0003457	HP:0003457	EMG abnormality	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0003457	HP:0003457	EMG abnormality	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0003457	HP:0003457	EMG abnormality	0	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA		38
HP:0003457	HP:0003457	EMG abnormality	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0003457	HP:0003457	EMG abnormality	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0003457	HP:0003457	EMG abnormality	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0003457	HP:0003457	EMG abnormality	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0003457	HP:0003457	EMG abnormality	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003457	HP:0003457	EMG abnormality	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0003457	HP:0003457	EMG abnormality	0	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity	HP:0040281 - Very frequent	145
HP:0003457	HP:0003457	EMG abnormality	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	73
HP:0003457	HP:0003457	EMG abnormality	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0003457	HP:0003457	EMG abnormality	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0003457	HP:0003457	EMG abnormality	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0003457	HP:0003457	EMG abnormality	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0003457	HP:0003457	EMG abnormality	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent	411
HP:0003457	HP:0003457	EMG abnormality	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	279
HP:0003457	HP:0003457	EMG abnormality	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0003457	HP:0003457	EMG abnormality	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease		211
HP:0003457	HP:0003457	EMG abnormality	0	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	136
HP:0003457	HP:0003457	EMG abnormality	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0003457	HP:0003457	EMG abnormality	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	286
HP:0003457	HP:0003457	EMG abnormality	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4		286
HP:0003457	HP:0003457	EMG abnormality	0	LGI4 CL E G H	163175	18712	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent	6
HP:0003457	HP:0003457	EMG abnormality	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0003457	HP:0003457	EMG abnormality	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0003457	HP:0003457	EMG abnormality	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0003457	HP:0003457	EMG abnormality	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040282 - Frequent	645
HP:0003457	HP:0003457	EMG abnormality	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	645
HP:0003457	HP:0003457	EMG abnormality	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0003457	HP:0003457	EMG abnormality	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0003457	HP:0003457	EMG abnormality	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent	63
HP:0003457	HP:0003457	EMG abnormality	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0003457	HP:0003457	EMG abnormality	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0003457	HP:0003457	EMG abnormality	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0003457	HP:0003457	EMG abnormality	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0003457	HP:0003457	EMG abnormality	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0003457	HP:0003457	EMG abnormality	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0003457	HP:0003457	EMG abnormality	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0003457	HP:0003457	EMG abnormality	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0003457	HP:0003457	EMG abnormality	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0003457	HP:0003457	EMG abnormality	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1143
HP:0003457	HP:0003457	EMG abnormality	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0003457	HP:0003457	EMG abnormality	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0003457	HP:0003457	EMG abnormality	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	452
HP:0003457	HP:0003457	EMG abnormality	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1269
HP:0003457	HP:0003457	EMG abnormality	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0003457	HP:0003457	EMG abnormality	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0003457	HP:0003457	EMG abnormality	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0003457	HP:0003457	EMG abnormality	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0003457	HP:0003457	EMG abnormality	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0003457	HP:0003457	EMG abnormality	0	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related		1269
HP:0003457	HP:0003457	EMG abnormality	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003457	HP:0003457	EMG abnormality	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0003457	HP:0003457	EMG abnormality	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A		75
HP:0003457	HP:0003457	EMG abnormality	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy		75
HP:0003457	HP:0003457	EMG abnormality	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0003457	HP:0003457	EMG abnormality	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	217
HP:0003457	HP:0003457	EMG abnormality	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0003457	HP:0003457	EMG abnormality	0	ND5 CL E G H	4540	7461	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0003457	HP:0003457	EMG abnormality	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy		745
HP:0003457	HP:0003457	EMG abnormality	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0003457	HP:0003457	EMG abnormality	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0003457	HP:0003457	EMG abnormality	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0003457	HP:0003457	EMG abnormality	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E		118
HP:0003457	HP:0003457	EMG abnormality	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	167
HP:0003457	HP:0003457	EMG abnormality	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0003457	HP:0003457	EMG abnormality	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0003457	HP:0003457	EMG abnormality	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0003457	HP:0003457	EMG abnormality	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0003457	HP:0003457	EMG abnormality	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency	.	94
HP:0003457	HP:0003457	EMG abnormality	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0003457	HP:0003457	EMG abnormality	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0003457	HP:0003457	EMG abnormality	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy		19
HP:0003457	HP:0003457	EMG abnormality	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0003457	HP:0003457	EMG abnormality	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0003457	HP:0003457	EMG abnormality	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0003457	HP:0003457	EMG abnormality	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0003457	HP:0003457	EMG abnormality	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4		186
HP:0003457	HP:0003457	EMG abnormality	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	57
HP:0003457	HP:0003457	EMG abnormality	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0003457	HP:0003457	EMG abnormality	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy		79
HP:0003457	HP:0003457	EMG abnormality	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0003457	HP:0003457	EMG abnormality	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0003457	HP:0003457	EMG abnormality	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0003457	HP:0003457	EMG abnormality	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0003457	HP:0003457	EMG abnormality	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0003457	HP:0003457	EMG abnormality	0	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	180
HP:0003457	HP:0003457	EMG abnormality	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		213
HP:0003457	HP:0003457	EMG abnormality	0	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	213
HP:0003457	HP:0003457	EMG abnormality	0	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	221
HP:0003457	HP:0003457	EMG abnormality	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0003457	HP:0003457	EMG abnormality	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	148
HP:0003457	HP:0003457	EMG abnormality	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0003457	HP:0003457	EMG abnormality	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0003457	HP:0003457	EMG abnormality	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0003457	HP:0003457	EMG abnormality	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0003457	HP:0003457	EMG abnormality	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	241
HP:0003457	HP:0003457	EMG abnormality	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	59
HP:0003457	HP:0003457	EMG abnormality	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0003457	HP:0003457	EMG abnormality	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent	57
HP:0003457	HP:0003457	EMG abnormality	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	212
HP:0003457	HP:0003457	EMG abnormality	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency		73
HP:0003457	HP:0003457	EMG abnormality	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0003457	HP:0003457	EMG abnormality	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	363
HP:0003457	HP:0003457	EMG abnormality	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0003457	HP:0003457	EMG abnormality	0	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0003457	HP:0003457	EMG abnormality	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent	125
HP:0003457	HP:0003457	EMG abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0003457	HP:0003457	EMG abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0003457	HP:0003457	EMG abnormality	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset		1200
HP:0003457	HP:0003457	EMG abnormality	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease		8
HP:0003457	HP:0003457	EMG abnormality	0	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040282 - Frequent	263
HP:0003457	HP:0003457	EMG abnormality	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040281 - Very frequent	263
HP:0003457	HP:0003457	EMG abnormality	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	263
HP:0003457	HP:0003457	EMG abnormality	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans		263
HP:0003457	HP:0003457	EMG abnormality	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040282 - Frequent	263
HP:0003457	HP:0003457	EMG abnormality	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg		263
HP:0003457	HP:0003457	EMG abnormality	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0003457	HP:0003457	EMG abnormality	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1134
HP:0003457	HP:0003457	EMG abnormality	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect		40
HP:0003457	HP:0003457	EMG abnormality	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003457	HP:0003457	EMG abnormality	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	304
HP:0003457	HP:0003457	EMG abnormality	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0003457	HP:0003457	EMG abnormality	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0003457	HP:0003457	EMG abnormality	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	223
HP:0003457	HP:0003457	EMG abnormality	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0003457	HP:0003457	EMG abnormality	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0003457	HP:0003457	EMG abnormality	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0003457	HP:0003457	EMG abnormality	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0003457	HP:0003457	EMG abnormality	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0003457	HP:0003457	EMG abnormality	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0003457	HP:0003457	EMG abnormality	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0003457	HP:0003457	EMG abnormality	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0003457	HP:0003457	EMG abnormality	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0003457	HP:0003457	EMG abnormality	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0003457	HP:0003457	EMG abnormality	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		68
HP:0003457	HP:0003457	EMG abnormality	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0003457	HP:0003457	EMG abnormality	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040282 - Frequent	504
HP:0003457	HP:0003457	EMG abnormality	0	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	174
HP:0003457	HP:0003457	EMG abnormality	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I		22
HP:0003457	HP:0003457	EMG abnormality	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.	22
HP:0003457	HP:0003457	EMG abnormality	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0003457	HP:0003457	EMG abnormality	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0003457	HP:0003457	EMG abnormality	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0003457	HP:0003457	EMG abnormality	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0003457	HP:0003457	EMG abnormality	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0003457	HP:0003457	EMG abnormality	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11		287
HP:0003457	HP:0003457	EMG abnormality	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0003457	HP:0003457	EMG abnormality	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0003457	HP:0003457	EMG abnormality	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0003457	HP:0003457	EMG abnormality	0	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type		62
HP:0003457	HP:0003457	EMG abnormality	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0003457	HP:0003457	EMG abnormality	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy		31
HP:0003457	HP:0003457	EMG abnormality	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0003457	HP:0003457	EMG abnormality	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0003457	HP:0003457	EMG abnormality	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0003457	HP:0003457	EMG abnormality	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type		1129
HP:0003457	HP:0003457	EMG abnormality	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0003457	HP:0003457	EMG abnormality	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0003457	HP:0003457	EMG abnormality	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0003457	HP:0003457	EMG abnormality	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0003457	HP:0003457	EMG abnormality	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0003457	HP:0003457	EMG abnormality	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0003457	HP:0003457	EMG abnormality	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0003457	HP:0003457	EMG abnormality	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0003457	HP:0003457	EMG abnormality	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	78
HP:0003457	HP:0003457	EMG abnormality	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0003457	HP:0003457	EMG abnormality	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type		18
HP:0003457	HP:0003457	EMG abnormality	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0003457	HP:0003457	EMG abnormality	0	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type		5
HP:0003457	HP:0003457	EMG abnormality	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0003457	HP:0003457	EMG abnormality	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0003457	HP:0003457	EMG abnormality	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	136
HP:0003457	HP:0003457	EMG abnormality	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	73
HP:0003457	HP:0003457	EMG abnormality	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	180
HP:0003457	HP:0003457	EMG abnormality	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy		37
HP:0003457	HP:0003457	EMG abnormality	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	248
HP:0003457	HP:0003457	EMG abnormality	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2		71
HP:0003457	HP:0003457	EMG abnormality	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	230
HP:0003457	HP:0003457	EMG abnormality	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0003457	HP:0003457	EMG abnormality	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0003457	HP:0003457	EMG abnormality	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0003457	HP:0003457	EMG abnormality	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0003457	HP:0003457	EMG abnormality	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia		203
HP:0003457	HP:0003457	EMG abnormality	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0003457	HP:0003457	EMG abnormality	0	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8	HP:0040281 - Very frequent	108
HP:0003457	HP:0003457	EMG abnormality	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome		4
HP:0003457	HP:0003457	EMG abnormality	0	TRNF CL E G H	4558	7481	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNH CL E G H	4564	7487	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNK CL E G H	4566	7489	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNP CL E G H	4571	7494	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0003457	HP:0003457	EMG abnormality	0	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0003457	HP:0003457	EMG abnormality	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0003457	HP:0003457	EMG abnormality	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	7128
HP:0003457	HP:0003457	EMG abnormality	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0003457	HP:0003457	EMG abnormality	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0003457	HP:0003457	EMG abnormality	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy		7128
HP:0003457	HP:0003457	EMG abnormality	0	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive		7128
HP:0003457	HP:0003457	EMG abnormality	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0003457	HP:0003457	EMG abnormality	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		113
HP:0003457	HP:0003457	EMG abnormality	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	85
HP:0003457	HP:0003457	EMG abnormality	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy		35
HP:0003457	HP:0003457	EMG abnormality	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0003457	HP:0003457	EMG abnormality	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		23
HP:0003457	HP:0003457	EMG abnormality	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0003457	HP:0003457	EMG abnormality	0	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included		116
HP:0003457	HP:0003457	EMG abnormality	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	248
HP:0003457	HP:0003457	EMG abnormality	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0003457	HP:0003457	EMG abnormality	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0003457	HP:0003457	EMG abnormality	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		63
HP:0003457	HP:0003457	EMG abnormality	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome		63
HP:0003457	HP:0003457	EMG abnormality	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0003457	HP:0003457	EMG abnormality	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0003457	HP:0003457	EMG abnormality	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003457	HP:0003457	EMG abnormality	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent	45
HP:0003457	HP:0003457	EMG abnormality	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0003457	HP:0030000	EMG: repetitive nerve stimulation abnormality	1	CL E G H
HP:0003457	HP:0100283	EMG: continuous motor unit activity at rest	1	CL E G H
HP:0003457	HP:0033767	Abnormal single motor unit action potential	1	CL E G H
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	96
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0003457	HP:0003445	EMG: neuropathic changes	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8		127
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040282 - Frequent	50
HP:0003457	HP:0030006	Single fiber EMG abnormality	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15		12
HP:0003457	HP:0030006	Single fiber EMG abnormality	1	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15		12
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0003457	HP:0030006	Single fiber EMG abnormality	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0003457	HP:0003445	EMG: neuropathic changes	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0003457	HP:0003482	EMG: axonal abnormality	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0003457	HP:0003445	EMG: neuropathic changes	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0003457	HP:0003730	EMG: myotonic runs	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0003457	HP:0003482	EMG: axonal abnormality	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003457	HP:0003445	EMG: neuropathic changes	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0003457	HP:0003445	EMG: neuropathic changes	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0003457	HP:0003445	EMG: neuropathic changes	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0003457	HP:0003445	EMG: neuropathic changes	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0003457	HP:0003445	EMG: neuropathic changes	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0003457	HP:0100287	EMG: slow motor conduction	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	71
HP:0003457	HP:0100287	EMG: slow motor conduction	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	5
HP:0003457	HP:0003482	EMG: axonal abnormality	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent	100
HP:0003457	HP:0003445	EMG: neuropathic changes	1	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3	.	192
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	5
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic		65
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	65
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	65
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0003457	HP:0003445	EMG: neuropathic changes	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent	11
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel		139
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0003457	HP:0003730	EMG: myotonic runs	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant	.	133
HP:0003457	HP:0003730	EMG: myotonic runs	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive	.	133
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	65
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0003457	HP:0003445	EMG: neuropathic changes	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita		3
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	442
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	478
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	702
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5		90
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0003457	HP:0003482	EMG: axonal abnormality	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0003457	HP:0003445	EMG: neuropathic changes	1	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant		2
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.	263
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0003457	HP:0100287	EMG: slow motor conduction	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0003457	HP:0003482	EMG: axonal abnormality	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0003457	HP:0100284	EMG: myotonic discharges	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0003457	HP:0030006	Single fiber EMG abnormality	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0003457	HP:0030006	Single fiber EMG abnormality	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0003457	HP:0003445	EMG: neuropathic changes	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0003457	HP:0003445	EMG: neuropathic changes	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003457	HP:0003445	EMG: neuropathic changes	1	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0003457	HP:0003445	EMG: neuropathic changes	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003457	HP:0003445	EMG: neuropathic changes	1	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.	108
HP:0003457	HP:0030006	Single fiber EMG abnormality	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1		128
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0003457	HP:0003445	EMG: neuropathic changes	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0003457	HP:0030006	Single fiber EMG abnormality	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19		34
HP:0003457	HP:0003482	EMG: axonal abnormality	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0003457	HP:0100284	EMG: myotonic discharges	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy	.	173
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0003457	HP:0003445	EMG: neuropathic changes	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0003457	HP:0100288	EMG: myokymic discharges	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040281 - Very frequent	12
HP:0003457	HP:0003445	EMG: neuropathic changes	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0003457	HP:0003445	EMG: neuropathic changes	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	5
HP:0003457	HP:0003445	EMG: neuropathic changes	1	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	HP:0040281 - Very frequent	47
HP:0003457	HP:0003445	EMG: neuropathic changes	1	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.	47
HP:0003457	HP:0003445	EMG: neuropathic changes	1	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.	13
HP:0003457	HP:0003445	EMG: neuropathic changes	1	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0003457	HP:0003445	EMG: neuropathic changes	1	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.	38
HP:0003457	HP:0100284	EMG: myotonic discharges	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0003457	HP:0003445	EMG: neuropathic changes	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0003457	HP:0003445	EMG: neuropathic changes	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	80
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	13
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040281 - Very frequent	3
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.	286
HP:0003457	HP:0003445	EMG: neuropathic changes	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.	286
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0003457	HP:0003482	EMG: axonal abnormality	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0003457	HP:0100284	EMG: myotonic discharges	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0003457	HP:0003445	EMG: neuropathic changes	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0003457	HP:0003445	EMG: neuropathic changes	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0003457	HP:0003482	EMG: axonal abnormality	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0003457	HP:0100284	EMG: myotonic discharges	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040283 - Occasional	1269
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0003457	HP:0003445	EMG: neuropathic changes	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.	1269
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related	.	1269
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040282 - Frequent	75
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	217
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	48
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	745
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent	745
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0003457	HP:0003445	EMG: neuropathic changes	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0003457	HP:0003445	EMG: neuropathic changes	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent	118
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0003457	HP:0003445	EMG: neuropathic changes	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0003457	HP:0003482	EMG: axonal abnormality	1	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent	214
HP:0003457	HP:0003445	EMG: neuropathic changes	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0003457	HP:0003482	EMG: axonal abnormality	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	19
HP:0003457	HP:0003482	EMG: axonal abnormality	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040281 - Very frequent	4
HP:0003457	HP:0003445	EMG: neuropathic changes	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0003457	HP:0003445	EMG: neuropathic changes	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent	759
HP:0003457	HP:0003445	EMG: neuropathic changes	1	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.	186
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0003457	HP:0003445	EMG: neuropathic changes	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent	79
HP:0003457	HP:0003445	EMG: neuropathic changes	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0003457	HP:0003445	EMG: neuropathic changes	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0003457	HP:0003445	EMG: neuropathic changes	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0003457	HP:0003445	EMG: neuropathic changes	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0003457	HP:0003445	EMG: neuropathic changes	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency		73
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040283 - Occasional	8
HP:0003457	HP:0100284	EMG: myotonic discharges	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040281 - Very frequent	263
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040283 - Occasional	263
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0003457	HP:0003445	EMG: neuropathic changes	1	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect		40
HP:0003457	HP:0003445	EMG: neuropathic changes	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003457	HP:0003482	EMG: axonal abnormality	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0003457	HP:0003482	EMG: axonal abnormality	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0003457	HP:0003730	EMG: myotonic runs	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0003457	HP:0100284	EMG: myotonic discharges	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0003457	HP:0003445	EMG: neuropathic changes	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0003457	HP:0003445	EMG: neuropathic changes	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0003457	HP:0030006	Single fiber EMG abnormality	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	28
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	28
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	9
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	9
HP:0003457	HP:0003445	EMG: neuropathic changes	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.	22
HP:0003457	HP:0003445	EMG: neuropathic changes	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003457	HP:0003445	EMG: neuropathic changes	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0003457	HP:0003445	EMG: neuropathic changes	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0003457	HP:0003445	EMG: neuropathic changes	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0003457	HP:0003482	EMG: axonal abnormality	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0003457	HP:0003445	EMG: neuropathic changes	1	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0003457	HP:0100287	EMG: slow motor conduction	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	54
HP:0003457	HP:0100287	EMG: slow motor conduction	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	149
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	62
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	31
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0003457	HP:0003445	EMG: neuropathic changes	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	4
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	4
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040281 - Very frequent	12
HP:0003457	HP:0003445	EMG: neuropathic changes	1	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0003457	HP:0100288	EMG: myokymic discharges	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional	13
HP:0003457	HP:0003445	EMG: neuropathic changes	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0003457	HP:0003482	EMG: axonal abnormality	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type		18
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	5
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent	37
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	54
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	108
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0003457	HP:0003445	EMG: neuropathic changes	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040283 - Occasional	203
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040281 - Very frequent	4
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10	.	7128
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive	.	7128
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0003457	HP:0003445	EMG: neuropathic changes	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040281 - Very frequent	35
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	23
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0003457	HP:0100285	EMG: impaired neuromuscular transmission	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0003457	HP:0003445	EMG: neuropathic changes	1	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included	.	116
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63
HP:0003457	HP:0003445	EMG: neuropathic changes	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0003457	HP:0003445	EMG: neuropathic changes	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0003457	HP:0003445	EMG: neuropathic changes	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040280 - Obligate	63
HP:0003457	HP:0003445	EMG: neuropathic changes	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0003457	HP:0003445	EMG: neuropathic changes	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003457	HP:0003458	EMG: myopathic abnormalities	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0003457	HP:0030206	EMG: incremental response of compound muscle action potential to repetitive nerve stimulation	2	CL E G H
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8		127
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0003457	HP:0030205	Increased jitter at single fiber EMG	2	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0003457	HP:0030205	Increased jitter at single fiber EMG	2	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15		12
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15		12
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0003457	HP:0030205	Increased jitter at single fiber EMG	2	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0003457	HP:0030007	EMG: positive sharp waves	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	253
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	253
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent	78
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040281 - Very frequent	3
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	90
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.	2
HP:0003457	HP:0030007	EMG: positive sharp waves	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0003457	HP:0030205	Increased jitter at single fiber EMG	2	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0003457	HP:0030205	Increased jitter at single fiber EMG	2	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040281 - Very frequent
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0003457	HP:0030205	Increased jitter at single fiber EMG	2	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0003457	HP:0030205	Increased jitter at single fiber EMG	2	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional	34
HP:0003457	HP:0030007	EMG: positive sharp waves	2	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040281 - Very frequent	12
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	HP:0040281 - Very frequent	47
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.	38
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	92
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040281 - Very frequent	203
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0003457	HP:0030007	EMG: positive sharp waves	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0003457	HP:0030007	EMG: positive sharp waves	2	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional	214
HP:0003457	HP:0030007	EMG: positive sharp waves	2	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent	49
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	81
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	81
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency		73
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent	40
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040281 - Very frequent
HP:0003457	HP:0030007	EMG: positive sharp waves	2	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0003457	HP:0030007	EMG: positive sharp waves	2	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040281 - Very frequent	493
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0003457	HP:0030205	Increased jitter at single fiber EMG	2	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040282 - Frequent	171
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040282 - Frequent	52
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040281 - Very frequent	13
HP:0003457	HP:0030007	EMG: positive sharp waves	2	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040282 - Frequent	18
HP:0003457	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0003457	HP:0003444	EMG: chronic denervation signs	2	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63