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