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:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040281 - Very frequent	99
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	5
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4	.	25
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040281 - Very frequent	167
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.	167
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3		31
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	.	5
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent	14
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040281 - Very frequent	7
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040281 - Very frequent	19
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.	1269
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	19
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040281 - Very frequent	1200
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional	1200
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040282 - Frequent	31
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.	1129
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent	4
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.	4
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0003687	HP:0003687	Centrally nucleated skeletal muscle fibers	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1