Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal skeletal muscle morphology (HP:0011805)

Parent Node:
EMG abnormality (HP:0003457)

Parent Node:
Myopathy (HP:0003198)

..Starting node
..EMG: myopathic abnormalities (HP:0003458)

Term ID:

3458

Name:

EMG: myopathic abnormalities

Synonym:

EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram

Definition:

The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.

Comments:

Reference:

HP:0003458

Genes and Diseases:

Child Nodes:

Sister Nodes:

Inflammatory myopathy (HP:0009071)

Minicore myopathy (HP:0003789)

Myofibrillar myopathy (HP:0003715)

Necrotizing myopathy (HP:0008978)

Skeletal myopathy (HP:0003756)

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:0003458	HP:0003458	EMG: myopathic abnormalities	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	96
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040282 - Frequent	50
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	5
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	65
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	65
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	442
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	478
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	702
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.	263
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy	.	173
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	5
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	80
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	13
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040281 - Very frequent	3
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.	286
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040283 - Occasional	1269
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.	1269
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related	.	1269
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040282 - Frequent	75
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	217
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	48
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	745
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent	745
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent	118
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	19
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent	759
HP:0003458	HP:0003458	EMG: myopathic abnormalities	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:0003458	HP:0003458	EMG: myopathic abnormalities	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040283 - Occasional	8
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040283 - Occasional	263
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	28
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	9
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	62
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	31
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	4
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040281 - Very frequent	12
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	5
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent	37
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	54
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	108
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040281 - Very frequent	4
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10	.	7128
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive	.	7128
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	23
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34

Genes (121) :ABHD5 ACAD9 ACTA1 AGRN AK9 ALDOA ANO5 BAG3 BIN1 CASQ1 CAV3 CDON CHAT CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 CRPPA CRYAB DES DHX16 DISP1 DLL1 DNM2 DOK7 DYSF EMD FGF8 FGFR1 FHL1 FKRP FKTN FOXH1 FXR1 GAS1 GIPC1 GLI2 GNE GYG1 HNRNPA1 HNRNPA2B1 JAG2 KBTBD13 KLHL41 KLHL9 LAMP2 LARGE1 LDB3 LMNA LRP12 LRP4 MEGF10 MSTO1 MTMR14 MUSK MYBPC1 MYF6 MYH14 MYH7 MYO9A MYOT MYPN NALCN NEB NEFL NODAL ORAI1 PLEC PLOD1 POLG POLG2 POMT1 PTCH1 RAPSN RILPL1 RRM2B RYR1 SAR1B SCN4A SGCA SGCG SHH SIX3 SLC18A3 SLC25A1 SLC25A4 SLC5A7 SNAP25 SQSTM1 STIM1 SUFU SVIL SYNE1 SYNE2 SYT2 TANGO2 TDGF1 TGIF1 TIA1 TK2 TMEM43 TNNT1 TNPO3 TPM2 TPM3 TRIM32 TRIP4 TTN TWNK UNC45B UNC80 VAMP1 VCP VWA1 ZIC2

Diseases (91) :ORPHA:98907 ORPHA:99901 ORPHA:171439 ORPHA:171433 OMIM:161800 ORPHA:97240 ORPHA:98913 ORPHA:98914 ORPHA:57 ORPHA:206549 OMIM:611307 OMIM:612954 ORPHA:169189 OMIM:255200 ORPHA:2593 OMIM:123320 ORPHA:488650 ORPHA:280200 ORPHA:276435 ORPHA:610 ORPHA:75840 ORPHA:370980 ORPHA:399058 OMIM:608810 OMIM:601419 OMIM:618733 OMIM:160150 OMIM:253601 ORPHA:98863 OMIM:300696 OMIM:606612 OMIM:618822 OMIM:618940 ORPHA:602 OMIM:605820 ORPHA:263297 ORPHA:52430 OMIM:619566 ORPHA:399081 OMIM:300257 OMIM:608840 OMIM:609452 ORPHA:98853 ORPHA:98855 OMIM:164310 OMIM:614399 ORPHA:502423 OMIM:618524 ORPHA:397744 ORPHA:59135 ORPHA:437572 OMIM:608358 OMIM:255160 OMIM:181430 ORPHA:266 ORPHA:98911 ORPHA:371364 ORPHA:399103 OMIM:256030 ORPHA:99939 ORPHA:254361 ORPHA:1900 ORPHA:254892 OMIM:157640 OMIM:258450 OMIM:619790 ORPHA:424107 ORPHA:71 ORPHA:684 OMIM:608099 ORPHA:353 OMIM:615418 OMIM:609283 ORPHA:603 OMIM:617158 OMIM:619040 ORPHA:480864 OMIM:609560 ORPHA:98902 OMIM:608423 OMIM:609284 OMIM:254110 ORPHA:486815 ORPHA:178464 OMIM:608807 ORPHA:609 OMIM:600334 OMIM:609286 OMIM:619178 ORPHA:329478 OMIM:619216

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen