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:0003324	HP:0003324	Generalized muscle weakness	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8	.	143
HP:0003324	HP:0003324	Generalized muscle weakness	0	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0003324	HP:0003324	Generalized muscle weakness	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0003324	HP:0003324	Generalized muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0003324	HP:0003324	Generalized muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	96
HP:0003324	HP:0003324	Generalized muscle weakness	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0003324	HP:0003324	Generalized muscle weakness	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0003324	HP:0003324	Generalized muscle weakness	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040282 - Frequent	13
HP:0003324	HP:0003324	Generalized muscle weakness	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0003324	HP:0003324	Generalized muscle weakness	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0003324	HP:0003324	Generalized muscle weakness	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent	60
HP:0003324	HP:0003324	Generalized muscle weakness	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	32
HP:0003324	HP:0003324	Generalized muscle weakness	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0003324	HP:0003324	Generalized muscle weakness	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0003324	HP:0003324	Generalized muscle weakness	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	11
HP:0003324	HP:0003324	Generalized muscle weakness	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	56
HP:0003324	HP:0003324	Generalized muscle weakness	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040281 - Very frequent	323
HP:0003324	HP:0003324	Generalized muscle weakness	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0003324	HP:0003324	Generalized muscle weakness	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent	1
HP:0003324	HP:0003324	Generalized muscle weakness	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0003324	HP:0003324	Generalized muscle weakness	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0003324	HP:0003324	Generalized muscle weakness	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	65
HP:0003324	HP:0003324	Generalized muscle weakness	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	11
HP:0003324	HP:0003324	Generalized muscle weakness	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	42
HP:0003324	HP:0003324	Generalized muscle weakness	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.	74
HP:0003324	HP:0003324	Generalized muscle weakness	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0003324	HP:0003324	Generalized muscle weakness	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel	.	88
HP:0003324	HP:0003324	Generalized muscle weakness	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0003324	HP:0003324	Generalized muscle weakness	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0003324	HP:0003324	Generalized muscle weakness	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0003324	HP:0003324	Generalized muscle weakness	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040282 - Frequent	65
HP:0003324	HP:0003324	Generalized muscle weakness	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0003324	HP:0003324	Generalized muscle weakness	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0003324	HP:0003324	Generalized muscle weakness	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0003324	HP:0003324	Generalized muscle weakness	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0003324	HP:0003324	Generalized muscle weakness	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0003324	HP:0003324	Generalized muscle weakness	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	90
HP:0003324	HP:0003324	Generalized muscle weakness	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0003324	HP:0003324	Generalized muscle weakness	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0003324	HP:0003324	Generalized muscle weakness	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	86
HP:0003324	HP:0003324	Generalized muscle weakness	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0003324	HP:0003324	Generalized muscle weakness	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040281 - Very frequent	103
HP:0003324	HP:0003324	Generalized muscle weakness	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0003324	HP:0003324	Generalized muscle weakness	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	4
HP:0003324	HP:0003324	Generalized muscle weakness	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	15
HP:0003324	HP:0003324	Generalized muscle weakness	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0003324	HP:0003324	Generalized muscle weakness	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0003324	HP:0003324	Generalized muscle weakness	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	111
HP:0003324	HP:0003324	Generalized muscle weakness	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0003324	HP:0003324	Generalized muscle weakness	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003324	HP:0003324	Generalized muscle weakness	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0003324	HP:0003324	Generalized muscle weakness	0	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4		184
HP:0003324	HP:0003324	Generalized muscle weakness	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	105
HP:0003324	HP:0003324	Generalized muscle weakness	0	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal	.	17
HP:0003324	HP:0003324	Generalized muscle weakness	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent	407
HP:0003324	HP:0003324	Generalized muscle weakness	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	45
HP:0003324	HP:0003324	Generalized muscle weakness	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0003324	HP:0003324	Generalized muscle weakness	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0003324	HP:0003324	Generalized muscle weakness	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	99
HP:0003324	HP:0003324	Generalized muscle weakness	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.	99
HP:0003324	HP:0003324	Generalized muscle weakness	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.	60
HP:0003324	HP:0003324	Generalized muscle weakness	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	60
HP:0003324	HP:0003324	Generalized muscle weakness	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	31
HP:0003324	HP:0003324	Generalized muscle weakness	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0003324	HP:0003324	Generalized muscle weakness	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0003324	HP:0003324	Generalized muscle weakness	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0003324	HP:0003324	Generalized muscle weakness	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	13
HP:0003324	HP:0003324	Generalized muscle weakness	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	92
HP:0003324	HP:0003324	Generalized muscle weakness	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare	286
HP:0003324	HP:0003324	Generalized muscle weakness	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.	11
HP:0003324	HP:0003324	Generalized muscle weakness	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0003324	HP:0003324	Generalized muscle weakness	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	80
HP:0003324	HP:0003324	Generalized muscle weakness	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	462
HP:0003324	HP:0003324	Generalized muscle weakness	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0003324	HP:0003324	Generalized muscle weakness	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0003324	HP:0003324	Generalized muscle weakness	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.	105
HP:0003324	HP:0003324	Generalized muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0003324	HP:0003324	Generalized muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0003324	HP:0003324	Generalized muscle weakness	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0003324	HP:0003324	Generalized muscle weakness	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0003324	HP:0003324	Generalized muscle weakness	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0003324	HP:0003324	Generalized muscle weakness	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0003324	HP:0003324	Generalized muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	745
HP:0003324	HP:0003324	Generalized muscle weakness	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0003324	HP:0003324	Generalized muscle weakness	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	24
HP:0003324	HP:0003324	Generalized muscle weakness	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	101
HP:0003324	HP:0003324	Generalized muscle weakness	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	62
HP:0003324	HP:0003324	Generalized muscle weakness	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.	19
HP:0003324	HP:0003324	Generalized muscle weakness	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	6
HP:0003324	HP:0003324	Generalized muscle weakness	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0003324	HP:0003324	Generalized muscle weakness	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0003324	HP:0003324	Generalized muscle weakness	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.	759
HP:0003324	HP:0003324	Generalized muscle weakness	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0003324	HP:0003324	Generalized muscle weakness	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0003324	HP:0003324	Generalized muscle weakness	0	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional	66
HP:0003324	HP:0003324	Generalized muscle weakness	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0003324	HP:0003324	Generalized muscle weakness	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0003324	HP:0003324	Generalized muscle weakness	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0003324	HP:0003324	Generalized muscle weakness	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0003324	HP:0003324	Generalized muscle weakness	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0003324	HP:0003324	Generalized muscle weakness	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	4
HP:0003324	HP:0003324	Generalized muscle weakness	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	2
HP:0003324	HP:0003324	Generalized muscle weakness	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	1
HP:0003324	HP:0003324	Generalized muscle weakness	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	1
HP:0003324	HP:0003324	Generalized muscle weakness	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	25
HP:0003324	HP:0003324	Generalized muscle weakness	0	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional	94
HP:0003324	HP:0003324	Generalized muscle weakness	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent	57
HP:0003324	HP:0003324	Generalized muscle weakness	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency		73
HP:0003324	HP:0003324	Generalized muscle weakness	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease	.	1200
HP:0003324	HP:0003324	Generalized muscle weakness	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0003324	HP:0003324	Generalized muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent	1200
HP:0003324	HP:0003324	Generalized muscle weakness	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0003324	HP:0003324	Generalized muscle weakness	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0003324	HP:0003324	Generalized muscle weakness	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0003324	HP:0003324	Generalized muscle weakness	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0003324	HP:0003324	Generalized muscle weakness	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0003324	HP:0003324	Generalized muscle weakness	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0003324	HP:0003324	Generalized muscle weakness	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0003324	HP:0003324	Generalized muscle weakness	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0003324	HP:0003324	Generalized muscle weakness	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0003324	HP:0003324	Generalized muscle weakness	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome	.	145
HP:0003324	HP:0003324	Generalized muscle weakness	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0003324	HP:0003324	Generalized muscle weakness	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0003324	HP:0003324	Generalized muscle weakness	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	28
HP:0003324	HP:0003324	Generalized muscle weakness	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0003324	HP:0003324	Generalized muscle weakness	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent	1
HP:0003324	HP:0003324	Generalized muscle weakness	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	9
HP:0003324	HP:0003324	Generalized muscle weakness	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0003324	HP:0003324	Generalized muscle weakness	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	53
HP:0003324	HP:0003324	Generalized muscle weakness	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	62
HP:0003324	HP:0003324	Generalized muscle weakness	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	4
HP:0003324	HP:0003324	Generalized muscle weakness	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0003324	HP:0003324	Generalized muscle weakness	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	65
HP:0003324	HP:0003324	Generalized muscle weakness	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	20
HP:0003324	HP:0003324	Generalized muscle weakness	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent	103
HP:0003324	HP:0003324	Generalized muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0003324	HP:0003324	Generalized muscle weakness	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0003324	HP:0003324	Generalized muscle weakness	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0003324	HP:0003324	Generalized muscle weakness	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	108
HP:0003324	HP:0003324	Generalized muscle weakness	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0003324	HP:0003324	Generalized muscle weakness	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0003324	HP:0003324	Generalized muscle weakness	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	31
HP:0003324	HP:0003324	Generalized muscle weakness	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0003324	HP:0003324	Generalized muscle weakness	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0003324	HP:0003324	Generalized muscle weakness	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional	35
HP:0003324	HP:0003324	Generalized muscle weakness	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	20
HP:0003324	HP:0003324	Generalized muscle weakness	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	1
HP:0003324	HP:0003324	Generalized muscle weakness	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0003324	HP:0003324	Generalized muscle weakness	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	116
HP:0003324	HP:0003324	Generalized muscle weakness	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent	63
HP:0003324	HP:0003324	Generalized muscle weakness	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040280 - Obligate	63
HP:0003324	HP:0003324	Generalized muscle weakness	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	7