Human Phenotype Ontology

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

..Starting node
..Abnormal muscle fiber-type distribution (HP:0033684)

Term ID:

33684

Name:

Abnormal muscle fiber-type distribution

Synonym:

Definition:

Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types

Comments:

Reference:

HP:0033684

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4		25
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity		145
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease		1200
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset		1200
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy		37
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0033684	HP:0033684	Abnormal muscle fiber-type distribution	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	96
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	96
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0033684	HP:0010602	Type 2 muscle fiber predominance	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0033684	HP:0033685	Fiber type grouping	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4		25
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	35
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0033684	HP:0010602	Type 2 muscle fiber predominance	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	90
HP:0033684	HP:0010602	Type 2 muscle fiber predominance	1	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0033684	HP:0010602	Type 2 muscle fiber predominance	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0033684	HP:0033685	Fiber type grouping	1	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	80
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity	HP:0040281 - Very frequent	145
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	13
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	13
HP:0033684	HP:0010602	Type 2 muscle fiber predominance	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	92
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	11
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0033684	HP:0033685	Fiber type grouping	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent	1269
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.	1269
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	217
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	745
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	745
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional	60
HP:0033684	HP:0033685	Fiber type grouping	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0033684	HP:0010602	Type 2 muscle fiber predominance	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional	213
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0033684	HP:0033685	Fiber type grouping	1	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent	1200
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease	.	1200
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040283 - Occasional	1200
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0033684	HP:0033685	Fiber type grouping	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent	37
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	54
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	54
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	108
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0033684	HP:0033685	Fiber type grouping	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0033684	HP:0003803	Type 1 muscle fiber predominance	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63

Genes (72) :ACTA1 ACTN2 AGRN AGTPBP1 AK9 ALG14 ALG2 ANXA11 BIN1 CAV3 CCDC78 CFL2 CHRNA1 CHRNB1 CHRND CHRNE CLCN6 COL13A1 COL6A1 COL6A2 COL6A3 COLQ COQ5 DNM2 DOK7 DPAGT1 DYNC1H1 EMILIN1 FKBP14 FXR1 GARS1 GFPT1 GMPPB GYG1 KBTBD13 KCNA1 KLHL40 KLHL41 KY LAMB2 LMOD3 LRP4 MTMR14 MUSK MYF6 MYH14 MYH2 MYH7 MYL1 MYPN NEB PNPT1 POLG POLRMT POMT1 RAPSN REEP1 RYR1 SCN4A SELENON SGCG SLC25A12 SLC5A6 SMN1 SPEG TNNT1 TPM2 TPM3 TTN TWNK UNC45B VCP

Diseases (61) :ORPHA:171439 ORPHA:171433 OMIM:161800 ORPHA:171430 ORPHA:171436 OMIM:618654 OMIM:618655 ORPHA:98913 OMIM:618276 ORPHA:353327 OMIM:619036 OMIM:619733 ORPHA:169189 ORPHA:169186 OMIM:614321 OMIM:614807 OMIM:616313 OMIM:619173 OMIM:254090 ORPHA:98915 OMIM:619028 OMIM:160150 OMIM:158600 OMIM:620080 OMIM:614557 OMIM:618823 OMIM:619042 OMIM:613507 ORPHA:972 OMIM:617114 OMIM:614369 OMIM:605637 ORPHA:59135 OMIM:160500 OMIM:608358 OMIM:255160 OMIM:618414 OMIM:617336 OMIM:256030 ORPHA:319514 OMIM:607459 OMIM:619743 ORPHA:86812 OMIM:620011 OMIM:117000 ORPHA:597 ORPHA:98905 ORPHA:424107 OMIM:619542 ORPHA:178145 OMIM:602771 OMIM:253700 OMIM:612949 OMIM:619903 OMIM:271150 ORPHA:98902 OMIM:605355 OMIM:609285 ORPHA:178464 OMIM:619178 OMIM:613954

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

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