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

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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ABHD5 CL E G H	51099	98907				ORPHA	1	291	21396	604780
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ACAD9 CL E G H	28976	99901				ORPHA	1	771	21497	611103
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ACADL CL E G H	33	99900				ORPHA	1	62	88	609576
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ACTA1 CL E G H	58	2020				ORPHA	1	506	129	102610
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ACTA1 CL E G H	58	97240				ORPHA	1	506	129	102610
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ACTA1 CL E G H	58	171433				ORPHA	1	506	129	102610
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ACTA1 CL E G H	58	171439				ORPHA	1	506	129	102610
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	506	129	102610
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ANO5 CL E G H	203859	206549				ORPHA	1	1162	27337	608662
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	1162	27337	608662
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	986	939	603883
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CASQ1 CL E G H	844	2593				ORPHA	1	249	1512	114250
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CAV3 CL E G H	859	488650				ORPHA	1	417	1529	601253
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL12A1 CL E G H	1303	75840				ORPHA	1	2548	2188	120320
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL6A1 CL E G H	1291	75840				ORPHA	1	1718	2211	120220
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL6A2 CL E G H	1292	75840				ORPHA	1	1928	2212	120240
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL6A3 CL E G H	1293	75840				ORPHA	1	3001	2213	120250
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CRYAB CL E G H	1410	399058				ORPHA	1	273	2389	123590
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	273	2389	123590
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DES CL E G H	1674	601419	Myofibrillar myopathy 1	601419	C1832370	OMIM	1	976	2770	125660
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	EMD CL E G H	2010	98863				ORPHA	1	695	3331	300384
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FHL1 CL E G H	2273	98863				ORPHA	1	586	3702	300163
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FKRP CL E G H	79147	370980				ORPHA	1	950	17997	606596
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FKTN CL E G H	2218	370980				ORPHA	1	914	3622	607440
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	GNE CL E G H	10020	602	GNE myopathy		CN924915	ORPHA	1	947	23657	603824
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	GNE CL E G H	10020	605820	Nonaka myopathy	605820	C1853926	OMIM	1	947	23657	603824
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	GYG1 CL E G H	2992	263297				ORPHA	1	273	4699	603942
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	HACD1 CL E G H	9200	2020				ORPHA	1	159	9639	610467
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	HNRNPA1 CL E G H	3178	52430				ORPHA	1	80	5031	164017
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	HNRNPA2B1 CL E G H	3181	52430				ORPHA	1	295	5033	600124
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ISPD CL E G H	729920	370980				ORPHA	1	733	37276	614631
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ITGA7 CL E G H	3679	2020				ORPHA	1	898	6143	600536
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	KBTBD13 CL E G H	390594	171439				ORPHA	1	530	37227	613727
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	KLHL41 CL E G H	10324	171439				ORPHA	1	294	16905	607701
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	KLHL41 CL E G H	10324	171433				ORPHA	1	294	16905	607701
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	KLHL9 CL E G H	55958	399081				ORPHA	1	200	18732	611201
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	807	6501	309060
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LDB3 CL E G H	11155	609452	Myofibrillar myopathy, ZASP-related	609452	C1836155	OMIM	1	1226	15710	605906
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LMNA CL E G H	4000	98853				ORPHA	1	1814	6636	150330
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LMNA CL E G H	4000	98855				ORPHA	1	1814	6636	150330
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MAP3K20 CL E G H	51776	2020				ORPHA	1	368	17797	609479
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MSTO1 CL E G H	55154	502423				ORPHA	1	158	29678	617619
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYH14 CL E G H	79784	397744				ORPHA	1	1062	23212	608568
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYH7 CL E G H	4625	437572				ORPHA	1	4106	7577	160760
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYH7 CL E G H	4625	255160	Myopathy, myosin storage, autosomal recessive	255160	C1850709	OMIM	1	4106	7577	160760
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	4106	7577	160760
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYH7 CL E G H	4625	181430	Scapuloperoneal myopathy, MYH7-related	181430	CN074265	OMIM	1	4106	7577	160760
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYL2 CL E G H	4633	2020				ORPHA	1	496	7583	160781
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYOT CL E G H	9499	98911				ORPHA	1	372	12399	604103
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYOT CL E G H	9499	266				ORPHA	1	372	12399	604103
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYPN CL E G H	84665	171439				ORPHA	1	1485	23246	608517
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	NEB CL E G H	4703	171433				ORPHA	1	8530	7720	161650
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	NEB CL E G H	4703	399103				ORPHA	1	8530	7720	161650
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	NEB CL E G H	4703	171439				ORPHA	1	8530	7720	161650
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ORAI1 CL E G H	84876	2593				ORPHA	1	326	25896	610277
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	PLEC CL E G H	5339	254361				ORPHA	1	5068	9069	601282
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	POMT1 CL E G H	10585	370980				ORPHA	1	906	9202	607423
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SELENON CL E G H	57190	2020				ORPHA	1	651	15999	606210
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SGCA CL E G H	6442	608099	Limb-girdle muscular dystrophy, type 2D	608099	C2936332	OMIM	1	628	10805	600119
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SGCG CL E G H	6445	353	Kozlowski Warren Fisher syndrome			ORPHA	1	549	10809	608896
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	STIM1 CL E G H	6786	2593				ORPHA	1	635	11386	605921
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SYNE1 CL E G H	23345	98853				ORPHA	1	5789	17089	608441
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SYNE2 CL E G H	23224	98853				ORPHA	1	3314	17084	608442
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	442	11831	188250
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TMEM43 CL E G H	79188	98853				ORPHA	1	825	28472	612048
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TNNT1 CL E G H	7138	98902				ORPHA	1	372	11948	191041
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	575	17103	610032
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TPM2 CL E G H	7169	171439				ORPHA	1	341	12011	190990
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TPM2 CL E G H	7169	2020				ORPHA	1	341	12011	190990
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TPM3 CL E G H	7170	171439				ORPHA	1	343	12012	191030
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TPM3 CL E G H	7170	2020				ORPHA	1	343	12012	191030
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TPM3 CL E G H	7170	171433				ORPHA	1	343	12012	191030
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	343	12012	191030
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TRIM32 CL E G H	22954	254110	Sarcotubular myopathy	254110	C0270968	OMIM	1	627	16380	602290
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TRIP4 CL E G H	9325	486815				ORPHA	1	212	12310	604501
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TTN CL E G H	7273	178464				ORPHA	1	27503	12403	188840
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TTN CL E G H	7273	609	Alopecia immunodeficiency			ORPHA	1	27503	12403	188840
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TTN CL E G H	7273	600334	Distal myopathy Markesbery-Griggs type	600334	C1838244	OMIM	1	27503	12403	188840
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	27503	12403	188840
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	VCP CL E G H	7415	52430				ORPHA	1	607	12666	601023
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	VCP CL E G H	7415	329478				ORPHA	1	607	12666	601023
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	AGRN CL E G H	375790	98914				ORPHA	0	2176	329	103320
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CDON CL E G H	50937	280200				ORPHA	0	652	17104	608707
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	CHAT CL E G H	1103	98914				ORPHA	0	984	1912	118490
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	COL13A1 CL E G H	1305	98914				ORPHA	0	559	2190	120350
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DISP1 CL E G H	84976	280200				ORPHA	0	287	19711	607502
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	DLL1 CL E G H	28514	280200				ORPHA	0	458	2908	606582
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FGF8 CL E G H	2253	280200				ORPHA	0	98	3686	600483
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FGFR1 CL E G H	2260	280200				ORPHA	0	936	3688	136350
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	FOXH1 CL E G H	8928	280200				ORPHA	0	279	3814	603621
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	GAS1 CL E G H	2619	280200				ORPHA	0	95	4165	139185
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	GLI2 CL E G H	2736	280200				ORPHA	0	832	4318	165230
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYH7 CL E G H	4625	59135				ORPHA	0	4106	7577	160760
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	MYO9A CL E G H	4649	98914				ORPHA	0	280	7608	604875
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	NODAL CL E G H	4838	280200				ORPHA	0	154	7865	601265
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	PTCH1 CL E G H	5727	280200				ORPHA	0	4487	9585	601309
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	0	140	10535	607690
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SCN4A CL E G H	6329	684				ORPHA	0	1765	10591	603967
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SHH CL E G H	6469	280200				ORPHA	0	429	10848	600725
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SIX3 CL E G H	6496	280200				ORPHA	0	183	10889	603714
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SLC18A3 CL E G H	6572	98914				ORPHA	0	305	10936	600336
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SLC25A1 CL E G H	6576	98914				ORPHA	0	568	10979	190315
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SLC5A7 CL E G H	60482	98914				ORPHA	0	455	14025	608761
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SNAP25 CL E G H	6616	98914				ORPHA	0	218	11132	600322
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SUFU CL E G H	51684	280200				ORPHA	0	1306	16466	607035
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	SYT2 CL E G H	127833	98914				ORPHA	0	232	11510	600104
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TDGF1 CL E G H	6997	280200				ORPHA	0		11701	187395
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	TGIF1 CL E G H	7050	280200				ORPHA	0	261	11776	602630
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	VAMP1 CL E G H	6843	98914				ORPHA	0	141	12642	185880
HP:0003458	HP:0003458	EMG: myopathic abnormalities	0	ZIC2 CL E G H	7546	280200				ORPHA	0	360	12873	603073

Genes (108) :ABHD5 ACAD9 ACADL ACTA1 AGRN AK9 ANO5 BAG3 BIN1 CASQ1 CAV3 CDON CHAT CHRNA1 CHRNB1 CHRND CHRNE COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 CRPPA CRYAB DES DISP1 DLL1 DNM2 DOK7 DYSF EMD FGF8 FGFR1 FHL1 FKRP FKTN FOXH1 GAS1 GLI2 GNE GYG1 HACD1 HNRNPA1 HNRNPA2B1 ISPD ITGA7 KBTBD13 KLHL41 KLHL9 LAMP2 LARGE1 LDB3 LMNA LRP4 MAP3K20 MSTO1 MTMR14 MUSK MYF6 MYH14 MYH7 MYL2 MYO9A MYOT MYPN NEB NODAL ORAI1 PLEC POLG POLG2 POMT1 PTCH1 RAPSN RRM2B RYR1 SAR1B SCN4A SELENON SGCA SGCG SHH SIX3 SLC18A3 SLC25A1 SLC25A4 SLC5A7 SNAP25 STIM1 SUFU SYNE1 SYNE2 SYT2 TDGF1 TGIF1 TK2 TMEM43 TNNT1 TNPO3 TPM2 TPM3 TRIM32 TRIP4 TTN TWNK VAMP1 VCP ZIC2

Diseases (71) :98907 99901 99900 171439 171433 97240 2020 161800 98914 98913 206549 611307 612954 169189 255200 2593 488650 123320 280200 75840 370980 399058 608810 601419 160150 253601 98863 606612 602 605820 263297 52430 399081 300257 608840 609452 98855 98853 502423 397744 59135 437572 255160 608358 181430 98911 266 399103 256030 254361 254892 157640 258450 424107 71 684 608099 353 609283 609560 98902 608423 609284 254110 486815 178464 609 600334 608807 609286 329478

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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