Severe Congenital Nemaline Myopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SVR040 MIFTS: 37	Severe Congenital Nemaline Myopathy Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Severe Congenital Nemaline Myopathy

MalaCards integrated aliases for Severe Congenital Nemaline Myopathy:

Name: Severe Congenital Nemaline Myopathy ²⁰ ⁵⁸

Severe Congenital Nm ²⁰

Characteristics:

Orphanet epidemiological data:

⁵⁸

severe congenital nemaline myopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Muscle diseases Respiratory diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G71.2

Orphanet ⁵⁸ ORPHA171430

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Summaries for Severe Congenital Nemaline Myopathy

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171430DefinitionSevere congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.EpidemiologyThe annual incidence of NM has been estimated at 1/50,000 live births and the severe congenital form might represent 10-20% of all cases.Clinical descriptionNeonates have sucking and swallowing difficulties, and gastroesophageal reflux, which leads to failure to thrive. Involvement of diaphragm and intercostal muscles contributes to respiratory insufficiency. Cardiomyopathy and arthrogryposis may occur. Survival after infancy is rare.EtiologyThe ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of NM.Genetic counselingNM is transmitted in an autosomal recessive fashion or occurs sporadically.Visit the Orphanet disease page for more resources.

MalaCards based summary : Severe Congenital Nemaline Myopathy, also known as severe congenital nm, is related to nemaline myopathy and batten-turner congenital myopathy. An important gene associated with Severe Congenital Nemaline Myopathy is KLHL40 (Kelch Like Family Member 40), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are dysphagia and skeletal muscle atrophy

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Related Diseases for Severe Congenital Nemaline Myopathy

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 3	Nemaline Myopathy 2
Nemaline Myopathy 5	Nemaline Myopathy 6
Nemaline Myopathy 1	Nemaline Myopathy 4
Nemaline Myopathy 7	Nemaline Myopathy 8
Nemaline Myopathy 9	Nemaline Myopathy 10
Nemaline Myopathy 11, Autosomal Recessive	Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy	Severe Congenital Nemaline Myopathy
Congenital Nemaline Myopathy

Diseases related to Severe Congenital Nemaline Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)

#	Related Disease	Score	Top Affiliating Genes
1	nemaline myopathy	30.1	NEB KLHL41 ACTA1
2	batten-turner congenital myopathy	29.2	NEB LMOD3 KLHL40 ACTA1
3	myopathy	29.2	NEB LMOD3 KLHL41 KLHL40 ACTA1
4	nemaline myopathy 2	29.1	NEB LMOD3 KLHL41 KLHL40
5	nemaline myopathy 3	28.6	NEB LMOD3 KLHL41 KLHL40 ACTA1
6	congenital nemaline myopathy	10.5
7	hypotonia	10.2
8	minicore myopathy with external ophthalmoplegia	10.1
9	muscular disease	10.1
10	neuromuscular disease	10.1
11	muscular dystrophy	10.1
12	lymphangiectasis	10.1
13	congenital amyoplasia	10.1
14	myopathy, spheroid body	9.9	NEB LMOD3
15	foot drop	9.9	NEB ACTA1
16	nemaline myopathy 8	9.9	LMOD3 KLHL40
17	hyaline body myopathy	9.9	NEB ACTA1
18	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	9.8	NEB ACTA1
19	myofibrillar myopathy	9.8	NEB ACTA1
20	nemaline myopathy 11, autosomal recessive	9.8	LMOD3 KLHL41
21	fetal akinesia deformation sequence 1	9.7	KLHL40 ACTA1
22	centronuclear myopathy	9.6	NEB KLHL40 ACTA1
23	distal arthrogryposis	9.6	NEB ACTA1
24	respiratory failure	9.5	LMOD3 KLHL40 ACTA1
25	nemaline myopathy 9	9.5	LMOD3 KLHL41 KLHL40
26	nemaline myopathy 10	9.5	LMOD3 KLHL41 KLHL40
27	intermediate congenital nemaline myopathy	9.5	NEB KLHL41 ACTA1
28	childhood-onset nemaline myopathy	9.5	NEB KLHL41 ACTA1
29	multiple pterygium syndrome, escobar variant	9.3	NEB LMOD3 KLHL41 KLHL40
30	typical congenital nemaline myopathy	9.2	NEB LMOD3 KLHL41 ACTA1
31	congenital structural myopathy	8.9	NEB LMOD3 KLHL41 KLHL40 ACTA1
32	congenital fiber-type disproportion	8.9	NEB LMOD3 KLHL41 KLHL40 ACTA1

Graphical network of the top 20 diseases related to Severe Congenital Nemaline Myopathy:

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Symptoms & Phenotypes for Severe Congenital Nemaline Myopathy

Human phenotypes related to Severe Congenital Nemaline Myopathy:

⁵⁸ ³¹ (show all 30)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysphagia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002015
2	skeletal muscle atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003202
3	motor delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001270
4	type 1 muscle fiber predominance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003803
5	nemaline bodies ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003798
6	polyhydramnios ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001561
7	decreased fetal movement ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001558
8	severe muscular hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006829
9	respiratory failure ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002878
10	hypokinesia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002375
11	axial muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003327
12	breech presentation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001623
13	increased connective tissue ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009025
14	multiple prenatal fractures ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005855
15	low-set ears ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000369
16	ophthalmoplegia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000602
17	micropenis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000054
18	hypospadias ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000047
19	adducted thumb ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001181
20	large fontanelles ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000239
21	arthrogryposis multiplex congenita ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002804
22	premature birth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001622
23	pulmonary hypoplasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002089
24	thin ribs ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000883
25	edema of the dorsum of hands ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007514
26	facial diplegia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001349
27	abnormality of the diaphragm ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000775
28	facial palsy ⁵⁸		Frequent (79-30%)
29	flexion contracture ⁵⁸		Frequent (79-30%)
30	abnormality of the thorax ⁵⁸		Frequent (79-30%)

MGI Mouse Phenotypes related to Severe Congenital Nemaline Myopathy:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.35	ACTA1 KLHL40 KLHL41 LMOD3 NEB
2	muscle	MP:0005369	9.02	ACTA1 KLHL40 KLHL41 LMOD3 NEB

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Drugs & Therapeutics for Severe Congenital Nemaline Myopathy

Search Clinical Trials , NIH Clinical Center for Severe Congenital Nemaline Myopathy

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Genetic Tests for Severe Congenital Nemaline Myopathy

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Anatomical Context for Severe Congenital Nemaline Myopathy

MalaCards organs/tissues related to Severe Congenital Nemaline Myopathy:

⁴⁰

Skeletal Muscle

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Publications for Severe Congenital Nemaline Myopathy

Articles related to Severe Congenital Nemaline Myopathy:

#	Title	Authors	PMID	Year
1	Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. ⁶	Ravenscroft G...Laing NG	23746549	2013
2	[Clinical features and gene mutation analysis of severe congenital nemaline myopathy in one neonate]. ⁶¹	Hu XW...Gao JM	31104670	2019
3	Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. ⁶¹	Sandaradura SA...Cooper ST	29266598	2018
4	Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. ⁶¹	Waisayarat J...Rochanawutanon M	25890230	2015
5	Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. ⁶¹	Kondo E...Saito K	22407809	2012
6	Mutations in the nebulin gene can cause severe congenital nemaline myopathy. ⁶¹	Wallgren-Pettersson C...Pelin K	12207937	2002
7	Severe congenital nemaline myopathy: a personal perspective. ⁶¹	Marinone K	9526359	1998
8	A new case of severe congenital nemaline myopathy. ⁶¹	Buonocore G...Bagnoli F	8155933	1993
9	Intranuclear rods in severe congenital nemaline myopathy. ⁶¹	Rifai Z...Griggs RC	8232959	1993

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Genes for Severe Congenital Nemaline Myopathy

Genes related to Severe Congenital Nemaline Myopathy (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KLHL40	Kelch Like Family Member 40	Protein Coding	775	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Likely pathogenic ⁶	23746549
2	NEB	Nebulin	Protein Coding	357.54	Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)
3	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	350	Causative germline mutation ⁵⁸
4	KLHL41	Kelch Like Family Member 41	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
5	LMOD3	Leiomodin 3	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸

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Variations for Severe Congenital Nemaline Myopathy

ClinVar genetic disease variations for Severe Congenital Nemaline Myopathy:

⁶ (show top 50) (show all 148)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KLHL40	NM_152393.4(KLHL40):c.602G>T (p.Trp201Leu)	SNV	Pathogenic	60514	rs397509420	3:42727712-42727712	3:42686220-42686220
2	KLHL40	NM_152393.4(KLHL40):c.1612G>C (p.Ala538Pro)	SNV	Pathogenic	60515	rs397509421	3:42732355-42732355	3:42690863-42690863
3	KLHL40	NM_152393.4(KLHL40):c.602G>A (p.Trp201Ter)	SNV	Pathogenic	60516	rs397509420	3:42727712-42727712	3:42686220-42686220
4	KLHL40	NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys)	SNV	Pathogenic	423767	rs758188096	3:42730437-42730437	3:42688945-42688945
5	KLHL40	NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys)	SNV	Pathogenic	60513	rs367579275	3:42730193-42730193	3:42688701-42688701
6	KLHL40	NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys)	SNV	Pathogenic	60512	rs397509419	3:42730521-42730521	3:42689029-42689029
7	KLHL40	NM_152393.4(KLHL40):c.1395C>A (p.Tyr465Ter)	SNV	Pathogenic	541327	rs139588377	3:42730183-42730183	3:42688691-42688691
8	KLHL40	NM_152393.4(KLHL40):c.818dup (p.Lys275fs)	Duplication	Pathogenic	650910	rs1575218831	3:42727926-42727927	3:42686434-42686435
9	KLHL40	NM_152393.4(KLHL40):c.631del (p.Ala211fs)	Deletion	Pathogenic	658674	rs752734208	3:42727740-42727740	3:42686248-42686248
10	KLHL40	NM_152393.4(KLHL40):c.211G>T (p.Glu71Ter)	SNV	Pathogenic	961304		3:42727321-42727321	3:42685829-42685829
11	KLHL40	NM_152393.4(KLHL40):c.544_545del (p.Ser182fs)	Microsatellite	Pathogenic	952701		3:42727652-42727653	3:42686160-42686161
12	KLHL40	NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro)	SNV	Pathogenic	846771		3:42730455-42730455	3:42688963-42688963
13	KLHL40	NM_152393.4(KLHL40):c.25G>T (p.Glu9Ter)	SNV	Likely pathogenic	804436	rs1575218072	3:42727135-42727135	3:42685643-42685643
14	KLHL40	NM_152393.4(KLHL40):c.176G>C (p.Arg59Pro)	SNV	Likely pathogenic	807621	rs778303947	3:42727286-42727286	3:42685794-42685794
15	KLHL40	NM_152393.4(KLHL40):c.1152+2T>A	SNV	Likely pathogenic	653053	rs1575219191	3:42728264-42728264	3:42686772-42686772
16	KLHL40	NM_152393.4(KLHL40):c.1421+1G>T	SNV	Likely pathogenic	571143	rs1186218257	3:42730210-42730210	3:42688718-42688718
17	KLHL40	NM_152393.4(KLHL40):c.1153-2A>T	SNV	Likely pathogenic	541330	rs752493018	3:42729632-42729632	3:42688140-42688140
18	KLHL40	NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)	SNV	Conflicting interpretations of pathogenicity	474339	rs763283033	3:42728041-42728041	3:42686549-42686549
19	KLHL40	NM_152393.4(KLHL40):c.100G>C (p.Asp34His)	SNV	Conflicting interpretations of pathogenicity	640377	rs778565563	3:42727210-42727210	3:42685718-42685718
20	KLHL40	NM_152393.4(KLHL40):c.1832T>C (p.Val611Ala)	SNV	Uncertain significance	640595	rs749220097	3:42733451-42733451	3:42691959-42691959
21	KLHL40	NM_152393.4(KLHL40):c.887_889AGG[1] (p.Glu297del)	Microsatellite	Uncertain significance	641052	rs1575218907	3:42727996-42727998	3:42686504-42686506
22	KLHL40	NM_152393.4(KLHL40):c.613G>T (p.Gly205Cys)	SNV	Uncertain significance	642297	rs746095931	3:42727723-42727723	3:42686231-42686231
23	KLHL40	NM_152393.4(KLHL40):c.416T>C (p.Leu139Pro)	SNV	Uncertain significance	642688	rs1328688864	3:42727526-42727526	3:42686034-42686034
24	KLHL40	NM_152393.4(KLHL40):c.119G>A (p.Gly40Asp)	SNV	Uncertain significance	642829	rs1575218183	3:42727229-42727229	3:42685737-42685737
25	KLHL40	NM_152393.4(KLHL40):c.1019G>C (p.Cys340Ser)	SNV	Uncertain significance	642847	rs758244161	3:42728129-42728129	3:42686637-42686637
26	KLHL40	NM_152393.4(KLHL40):c.1636G>C (p.Glu546Gln)	SNV	Uncertain significance	644787	rs137937929	3:42732379-42732379	3:42690887-42690887
27	KLHL40	NM_152393.4(KLHL40):c.1396G>T (p.Val466Leu)	SNV	Uncertain significance	646499	rs773720799	3:42730184-42730184	3:42688692-42688692
28	KLHL40	NM_152393.4(KLHL40):c.1412_1415delinsC (p.Gly471_Ser472delinsAla)	Indel	Uncertain significance	648873	rs1427058930	3:42730200-42730203	3:42688708-42688711
29	KLHL40	NM_152393.4(KLHL40):c.108G>A (p.Val36=)	SNV	Uncertain significance	649408	rs533754492	3:42727218-42727218	3:42685726-42685726
30	KLHL40	NM_152393.4(KLHL40):c.613G>A (p.Gly205Ser)	SNV	Uncertain significance	649999	rs746095931	3:42727723-42727723	3:42686231-42686231
31	KLHL40	NM_152393.4(KLHL40):c.1053C>A (p.His351Gln)	SNV	Uncertain significance	574271	rs61736693	3:42728163-42728163	3:42686671-42686671
32	KLHL40	NM_152393.4(KLHL40):c.1383G>C (p.Met461Ile)	SNV	Uncertain significance	574408	rs762113138	3:42730171-42730171	3:42688679-42688679
33	KLHL40	NM_152393.4(KLHL40):c.1761C>G (p.Asn587Lys)	SNV	Uncertain significance	574846	rs34020089	3:42733380-42733380	3:42691888-42691888
34	KLHL40	NM_152393.4(KLHL40):c.764A>G (p.Gln255Arg)	SNV	Uncertain significance	575376	rs139088361	3:42727874-42727874	3:42686382-42686382
35	KLHL40	NM_152393.4(KLHL40):c.1493C>G (p.Thr498Ser)	SNV	Uncertain significance	577365	rs761479692	3:42730432-42730432	3:42688940-42688940
36	KLHL40	NM_152393.4(KLHL40):c.1595T>C (p.Ile532Thr)	SNV	Uncertain significance	577617	rs368161576	3:42730534-42730534	3:42689042-42689042
37	KLHL40	NM_152393.4(KLHL40):c.1370T>A (p.Val457Glu)	SNV	Uncertain significance	578319	rs1559614662	3:42730158-42730158	3:42688666-42688666
38	KLHL40	NM_152393.4(KLHL40):c.1504C>A (p.Leu502Ile)	SNV	Uncertain significance	578731	rs766195312	3:42730443-42730443	3:42688951-42688951
39	KLHL40	NM_152393.4(KLHL40):c.1153-3C>A	SNV	Uncertain significance	578779	rs767265252	3:42729631-42729631	3:42688139-42688139
40	KLHL40	NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser)	SNV	Uncertain significance	578842	rs140056720	3:42727198-42727198	3:42685706-42685706
41	KLHL40	NM_152393.4(KLHL40):c.395A>G (p.Asn132Ser)	SNV	Uncertain significance	579724	rs767039942	3:42727505-42727505	3:42686013-42686013
42	KLHL40	NM_152393.4(KLHL40):c.752T>A (p.Leu251Gln)	SNV	Uncertain significance	581235	rs928500134	3:42727862-42727862	3:42686370-42686370
43	KLHL40	NM_152393.4(KLHL40):c.1396G>A (p.Val466Ile)	SNV	Uncertain significance	634636	rs773720799	3:42730184-42730184	3:42688692-42688692
44	KLHL40	NM_152393.4(KLHL40):c.1414A>G (p.Ser472Gly)	SNV	Uncertain significance	640159	rs752099249	3:42730202-42730202	3:42688710-42688710
45	KLHL40	NM_152393.4(KLHL40):c.1097G>A (p.Gly366Asp)	SNV	Uncertain significance	653866	rs952832025	3:42728207-42728207	3:42686715-42686715
46	KLHL40	NM_152393.4(KLHL40):c.1381A>G (p.Met461Val)	SNV	Uncertain significance	546303	rs776547008	3:42730169-42730169	3:42688677-42688677
47	KLHL40	NM_152393.4(KLHL40):c.344C>T (p.Ser115Phe)	SNV	Uncertain significance	661064	rs371748730	3:42727454-42727454	3:42685962-42685962
48	KLHL40	NM_152393.4(KLHL40):c.1243T>C (p.Tyr415His)	SNV	Uncertain significance	662094	rs759757085	3:42729724-42729724	3:42688232-42688232
49	KLHL40	NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)	SNV	Uncertain significance	689641	rs367579275	3:42730193-42730193	3:42688701-42688701
50	KLHL40	NM_152393.4(KLHL40):c.125G>A (p.Arg42His)	SNV	Uncertain significance	651143	rs907216548	3:42727235-42727235	3:42685743-42685743

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Expression for Severe Congenital Nemaline Myopathy

Search GEO for disease gene expression data for Severe Congenital Nemaline Myopathy.

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Pathways for Severe Congenital Nemaline Myopathy

Pathways related to Severe Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Striated Muscle Contraction ⁶⁵ ¹	10.48	NEB ACTA1

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GO Terms for Severe Congenital Nemaline Myopathy

Cellular components related to Severe Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.67	NEB LMOD3 KLHL41 ACTA1
2	sarcomere	GO:0030017	9.4	NEB ACTA1
3	myofibril	GO:0030016	9.32	NEB LMOD3
4	Cul3-RING ubiquitin ligase complex	GO:0031463	9.26	KLHL41 KLHL40
5	M band	GO:0031430	9.16	LMOD3 KLHL41
6	A band	GO:0031672	8.96	LMOD3 KLHL40
7	striated muscle thin filament	GO:0005865	8.62	LMOD3 ACTA1

Biological processes related to Severe Congenital Nemaline Myopathy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	muscle contraction	GO:0006936	9.37	LMOD3 ACTA1
2	muscle filament sliding	GO:0030049	9.32	NEB ACTA1
3	striated muscle contraction	GO:0006941	9.26	LMOD3 KLHL41
4	myofibril assembly	GO:0030239	9.16	LMOD3 KLHL41
5	skeletal muscle thin filament assembly	GO:0030240	8.96	LMOD3 ACTA1
6	skeletal muscle fiber development	GO:0048741	8.92	LMOD3 KLHL41 KLHL40 ACTA1

Sources

Sources for Severe Congenital Nemaline Myopathy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia