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