Nemaline Myopathy 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

NEM7 MCID: NML010 MIFTS: 39	Nemaline Myopathy 7 (NEM7) 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 Nemaline Myopathy 7

MalaCards integrated aliases for Nemaline Myopathy 7:

Name: Nemaline Myopathy 7 ⁵⁷ ¹² ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Nemaline Myopathy 7, Autosomal Recessive ⁵⁷ ¹² ⁷³ ²⁹

Nem7 ⁵⁷ ¹² ⁷³

Cfl2-Related Nemaline Myopathy ⁷³

Myopathy, Nemaline, Type 7 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in early childhood
two unrelated families have been reported (last curated august 2013)

HPO:

³¹

nemaline myopathy 7:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110934

OMIM® ⁵⁷ 610687

OMIM Phenotypic Series ⁵⁷ PS161800

MeSH ⁴⁴ D017696

MedGen ⁴¹ C1853154

SNOMED-CT via HPO ⁶⁸ 22325002 258211005 26544005 more

UMLS ⁷¹ C1853154

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Summaries for Nemaline Myopathy 7

OMIM® : ⁵⁷ Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012). For a discussion of genetic heterogeneity of nemaline myopathy, see 161800. (610687) (Updated 05-Mar-2021)

MalaCards based summary : Nemaline Myopathy 7, also known as nemaline myopathy 7, autosomal recessive, is related to nemaline myopathy 10 and congenital structural myopathy. An important gene associated with Nemaline Myopathy 7 is CFL2 (Cofilin 2), and among its related pathways/superpathways are Metabolism of nucleotides and Gap junction. Affiliated tissues include skeletal muscle, and related phenotypes are respiratory insufficiency due to muscle weakness and gait disturbance

Disease Ontology : ¹² A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has material basis in homozygous mutation in the CFL2 gene on chromosome 14q13.

UniProtKB/Swiss-Prot : ⁷³ Nemaline myopathy 7: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved.

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Related Diseases for Nemaline Myopathy 7

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 Nemaline Myopathy 7 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	nemaline myopathy 10	10.0	KBTBD13 CFL2
2	congenital structural myopathy	10.0	KBTBD13 CFL2
3	batten-turner congenital myopathy	9.9	KBTBD13 CFL2
4	congenital fiber-type disproportion	9.8	KBTBD13 CFL2
5	nemaline myopathy 2	9.7	KBTBD13 CTPS1 CFL2
6	nemaline myopathy 5	9.5	POLR2D KBTBD13 GUCY1A2 CTPS2

Graphical network of the top 20 diseases related to Nemaline Myopathy 7:

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Symptoms & Phenotypes for Nemaline Myopathy 7

Human phenotypes related to Nemaline Myopathy 7:

³¹ (show all 14)

#	Description	HPO Frequency	HPO Source Accession
1	respiratory insufficiency due to muscle weakness ³¹	occasional (7.5%)	HP:0002747
2	gait disturbance ³¹		HP:0001288
3	high palate ³¹		HP:0000218
4	muscle weakness ³¹		HP:0001324
5	nemaline bodies ³¹		HP:0003798
6	joint hypermobility ³¹		HP:0001382
7	areflexia ³¹		HP:0001284
8	delayed gross motor development ³¹		HP:0002194
9	myofibrillar myopathy ³¹		HP:0003715
10	generalized hypotonia ³¹		HP:0001290
11	minicore myopathy ³¹		HP:0003789
12	neck muscle weakness ³¹		HP:0000467
13	gowers sign ³¹		HP:0003391
14	hypotonia ³¹		HP:0001252

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Skeletal:
joint hypermobility

Head And Neck Neck:
neck muscle weakness

Neurologic Central Nervous System:
abnormal gait
delayed motor development
loss of independent ambulation (in some patients)

Respiratory:
respiratory insufficiency due to muscle weakness (in some patients)

Neurologic Peripheral Nervous System:
areflexia

Muscle Soft Tissue:
gowers sign
hypotonia
type 1 fiber predominance
muscle weakness, mainly proximal and axial
fiber type variation seen on biopsy
more

Head And Neck Mouth:
high-arched palate

Clinical features from OMIM®:

610687 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation	GR00016-A	8.8	GUCY1A2 POLR2C POLR2D

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Drugs & Therapeutics for Nemaline Myopathy 7

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 7

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Genetic Tests for Nemaline Myopathy 7

Genetic tests related to Nemaline Myopathy 7:

#	Genetic test	Affiliating Genes
1	Nemaline Myopathy 7 ²⁹	CFL2
2	Nemaline Myopathy 7, Autosomal Recessive ²⁹

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Anatomical Context for Nemaline Myopathy 7

MalaCards organs/tissues related to Nemaline Myopathy 7:

⁴⁰

Skeletal Muscle

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Publications for Nemaline Myopathy 7

Articles related to Nemaline Myopathy 7:

#	Title	Authors	PMID	Year
1	Congenital myopathy caused by a novel missense mutation in the CFL2 gene. ⁶ ⁵⁷	Ockeloen CW...van Alfen N	22560515	2012
2	Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. ⁶ ⁵⁷	Agrawal PB...Beggs AH	17160903	2007
3	Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. ⁶¹	Maggi L...Muntoni F	23394784	2013

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Genes for Nemaline Myopathy 7

Genes related to Nemaline Myopathy 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CFL2	Cofilin 2	Protein Coding	1323.48	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	17160903
2	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	7.6	DISEASES inferred ¹⁵
3	POLR2D	RNA Polymerase II Subunit D	Protein Coding	7.05	DISEASES inferred ¹⁵
4	CTPS2	CTP Synthase 2	Protein Coding	6.95	DISEASES inferred ¹⁵
5	GUCY1A2	Guanylate Cyclase 1 Soluble Subunit Alpha 2	Protein Coding	6.74	DISEASES inferred ¹⁵
6	POLR2C	RNA Polymerase II Subunit C	Protein Coding	6.56	DISEASES inferred ¹⁵
7	GUCY1B1	Guanylate Cyclase 1 Soluble Subunit Beta 1	Protein Coding	6.48	DISEASES inferred ¹⁵
8	CTPS1	CTP Synthase 1	Protein Coding	6.17	DISEASES inferred ¹⁵

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Variations for Nemaline Myopathy 7

ClinVar genetic disease variations for Nemaline Myopathy 7:

⁶ (show top 50) (show all 61)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CFL2	NM_138638.5(CFL2):c.103G>A (p.Ala35Thr)	SNV	Pathogenic	8160	rs80358250	14:35182668-35182668	14:34713462-34713462
2	CFL2	NC_000014.9:g.(?_34712845)_(34714560_?)del	Deletion	Pathogenic	583485		14:35182051-35183766	14:34712845-34714560
3	CFL2	NC_000014.9:g.(?_34710372)_(34713686_?)del	Deletion	Pathogenic	657372		14:35179578-35182892	14:34710372-34713686
4	CFL2	NM_138638.5(CFL2):c.338del (p.Ser113fs)	Deletion	Pathogenic	800930	rs1594784544	14:35182316-35182316	14:34713110-34713110
5	CFL2	NC_000014.9:g.(?_34710372)_(34713686_?)dup	Duplication	Uncertain significance	833241		14:35179578-35182892
6	CFL2	NM_138638.5(CFL2):c.17C>G (p.Thr6Arg)	SNV	Uncertain significance	840465		14:35182754-35182754	14:34713548-34713548
7	CFL2	NM_138638.5(CFL2):c.*1030C>G	SNV	Uncertain significance	881372		14:35181041-35181041	14:34711835-34711835
8	CFL2	NM_138638.5(CFL2):c.54G>A (p.Met18Ile)	SNV	Uncertain significance	661578	rs1594784960	14:35182717-35182717	14:34713511-34713511
9	CFL2	NM_138638.5(CFL2):c.471_473AGT[1] (p.Val159del)	Microsatellite	Uncertain significance	662117	rs1594784265	14:35182096-35182098	14:34712890-34712892
10	CFL2	NC_000014.8:g.(?_35182051)_(35183766_?)dup	Duplication	Uncertain significance	583711		14:35182051-35183766	14:34712845-34714560
11	CFL2	NM_138638.5(CFL2):c.328C>T (p.Pro110Ser)	SNV	Uncertain significance	650607	rs1594784547	14:35182326-35182326	14:34713120-34713120
12	CFL2	NM_138638.5(CFL2):c.457T>G (p.Leu153Val)	SNV	Uncertain significance	128713	rs587780312	14:35182115-35182115	14:34712909-34712909
13	CFL2	NM_138638.5(CFL2):c.19G>A (p.Val7Met)	SNV	Uncertain significance	60554	rs397515451	14:35182752-35182752	14:34713546-34713546
14	CFL2	NM_138638.5(CFL2):c.*1070G>A	SNV	Uncertain significance	313085	rs767101584	14:35181001-35181001	14:34711795-34711795
15	CFL2	NM_138638.5(CFL2):c.*718A>G	SNV	Uncertain significance	313089	rs886050474	14:35181353-35181353	14:34712147-34712147
16	CFL2	NM_138638.5(CFL2):c.*1036G>A	SNV	Uncertain significance	313086	rs150492527	14:35181035-35181035	14:34711829-34711829
17	CFL2	NM_138638.5(CFL2):c.*2340T>G	SNV	Uncertain significance	313075	rs886050473	14:35179731-35179731	14:34710525-34710525
18	CFL2	NM_138638.5(CFL2):c.4-198A>G	SNV	Uncertain significance	313098	rs143465827	14:35182965-35182965	14:34713759-34713759
19	CFL2	NM_138638.5(CFL2):c.*362G>A	SNV	Uncertain significance	313092	rs553554454	14:35181709-35181709	14:34712503-34712503
20	CFL2	NM_138638.5(CFL2):c.*1885C>T	SNV	Uncertain significance	313081	rs775859581	14:35180186-35180186	14:34710980-34710980
21	CFL2	NM_138638.5(CFL2):c.*541A>G	SNV	Uncertain significance	313090	rs144345993	14:35181530-35181530	14:34712324-34712324
22	CFL2	NM_138638.5(CFL2):c.*995T>C	SNV	Uncertain significance	313087	rs749572493	14:35181076-35181076	14:34711870-34711870
23	CFL2	NM_138638.5(CFL2):c.*293G>A	SNV	Uncertain significance	313093	rs774843860	14:35181778-35181778	14:34712572-34712572
24	CFL2	NM_138638.5(CFL2):c.4-172C>T	SNV	Uncertain significance	313097	rs190226324	14:35182939-35182939	14:34713733-34713733
25	CFL2	NM_138638.5(CFL2):c.*2284C>T	SNV	Uncertain significance	313076	rs372609152	14:35179787-35179787	14:34710581-34710581
26	CFL2	NM_138638.5(CFL2):c.*738A>G	SNV	Uncertain significance	881374		14:35181333-35181333	14:34712127-34712127
27	CFL2	NM_138638.5(CFL2):c.*720A>T	SNV	Uncertain significance	881375		14:35181351-35181351	14:34712145-34712145
28	CFL2	NM_138638.5(CFL2):c.*473A>G	SNV	Uncertain significance	881820		14:35181598-35181598	14:34712392-34712392
29	CFL2	NM_138638.5(CFL2):c.*2248G>A	SNV	Uncertain significance	882916		14:35179823-35179823	14:34710617-34710617
30	CFL2	NM_138638.5(CFL2):c.*1886G>A	SNV	Uncertain significance	882917		14:35180185-35180185	14:34710979-34710979
31	CFL2	NM_138638.5(CFL2):c.*281A>G	SNV	Uncertain significance	882970		14:35181790-35181790	14:34712584-34712584
32	CFL2	NM_138638.5(CFL2):c.*1810T>A	SNV	Uncertain significance	883712		14:35180261-35180261	14:34711055-34711055
33	CFL2	NM_138638.5(CFL2):c.*1759A>G	SNV	Uncertain significance	883713		14:35180312-35180312	14:34711106-34711106
34	CFL2	NM_138638.5(CFL2):c.*1620T>C	SNV	Uncertain significance	883714		14:35180451-35180451	14:34711245-34711245
35	CFL2	NM_138638.5(CFL2):c.*1507C>T	SNV	Uncertain significance	883715		14:35180564-35180564	14:34711358-34711358
36	CFL2	NM_138638.5(CFL2):c.24TGA[1] (p.Asp9del)	Microsatellite	Uncertain significance	944237		14:35182742-35182744	14:34713536-34713538
37	CFL2	NM_138638.5(CFL2):c.312-3T>G	SNV	Uncertain significance	953422		14:35182345-35182345	14:34713139-34713139
38	CFL2	NM_138638.5(CFL2):c.169G>A (p.Val57Met)	SNV	Uncertain significance	954128		14:35182602-35182602	14:34713396-34713396
39	CFL2	NM_138638.5(CFL2):c.151G>A (p.Glu51Lys)	SNV	Uncertain significance	954174		14:35182620-35182620	14:34713414-34713414
40	CFL2	NM_138638.5(CFL2):c.242G>A (p.Arg81Gln)	SNV	Uncertain significance	971564		14:35182529-35182529	14:34713323-34713323
41	CFL2	NM_138638.5(CFL2):c.76C>G (p.Gln26Glu)	SNV	Uncertain significance	882972		14:35182695-35182695	14:34713489-34713489
42	CFL2	NM_138638.5(CFL2):c.388G>C (p.Gly130Arg)	SNV	Uncertain significance	583009	rs1566525113	14:35182266-35182266	14:34713060-34713060
43	CFL2	NM_138638.5(CFL2):c.*1268C>T	SNV	Likely benign	883716		14:35180803-35180803	14:34711597-34711597
44	CFL2	NM_138638.5(CFL2):c.*40A>G	SNV	Likely benign	882971		14:35182031-35182031	14:34712825-34712825
45	CFL2	NM_138638.5(CFL2):c.*671C>T	SNV	Likely benign	881818		14:35181400-35181400	14:34712194-34712194
46	CFL2	NM_138638.5(CFL2):c.*605T>C	SNV	Likely benign	881819		14:35181466-35181466	14:34712260-34712260
47	CFL2	NM_138638.5(CFL2):c.389-9del	Deletion	Likely benign	465805	rs1555333750	14:35182192-35182192	14:34712986-34712986
48	CFL2	NM_138638.5(CFL2):c.255C>T (p.Tyr85=)	SNV	Likely benign	390982	rs1057523939	14:35182516-35182516	14:34713310-34713310
49	CFL2	NM_138638.5(CFL2):c.*905A>G	SNV	Likely benign	881373		14:35181166-35181166	14:34711960-34711960
50	CFL2	NM_138638.5(CFL2):c.495A>G (p.Pro165=)	SNV	Likely benign	743607	rs201619073	14:35182077-35182077	14:34712871-34712871

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 7:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	CFL2	p.Ala35Thr	VAR_031989	rs80358250

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Expression for Nemaline Myopathy 7

Search GEO for disease gene expression data for Nemaline Myopathy 7.

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Pathways for Nemaline Myopathy 7

Pathways related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of nucleotides ⁶⁵ Show member pathways 5-aminoimidazole ribonucleotide biosynthesis ¹ adenine and adenosine salvage I ¹ adenine and adenosine salvage II ¹ adenine and adenosine salvage III ¹ adenosine nucleotides degradation ¹ guanine and guanosine salvage ¹ guanosine nucleotides degradation ¹ inosine-5-phosphate biosynthesis ¹ oxidized GTP and dGTP detoxification ¹ Phosphate bond hydrolysis by NTPDase proteins ⁶⁵ Phosphate bond hydrolysis by NUDT proteins ⁶⁵ Purine catabolism ⁶⁵ purine deoxyribonucleosides degradation ¹ Purine metabolism ³⁶ Purine metabolism ⁶⁵ purine nucleotides degradation ¹ Purine ribonucleoside monophosphate biosynthesis ⁶⁵ purine ribonucleosides degradation to ribose-1-phosphate ¹ Purine salvage ⁶⁵ Pyrimidine biosynthesis ⁶⁵ Pyrimidine catabolism ⁶⁵ Pyrimidine metabolism ⁶⁵ Pyrimidine metabolism ³⁶ pyrimidine ribonucleosides salvage I ¹ Pyrimidine salvage reactions ⁶⁵ UMP biosynthesis ¹ urate biosynthesis/inosine 5-phosphate degradation ¹ UTP and CTP dephosphorylation II ¹	11.93	GUCY1B1 GUCY1A2 CTPS2 CTPS1
2	Gap junction ³⁶	11.45	GUCY1B1 GUCY1A2
3	ATP/ITP metabolism ²³	11.42	POLR2D POLR2C
4	Renin secretion ³⁶	11.32	GUCY1B1 GUCY1A2
5	Long-term depression ³⁶	11.23	GUCY1B1 GUCY1A2
6	mRNA Splicing - Minor Pathway ⁶⁵	11.16	POLR2D POLR2C
7	Transcriptional regulation of pluripotent stem cells ⁶⁵ Show member pathways POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation ⁶⁵	11.09	POLR2D POLR2C
8	Nitric oxide stimulates guanylate cyclase ⁶⁵ Show member pathways cGMP effects ⁶⁵	10.99	GUCY1B1 GUCY1A2
9	PIWI-interacting RNA (piRNA) biogenesis ⁶⁵	10.78	POLR2D POLR2C
10	Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR2 ²³	10.7	GUCY1B1 GUCY1A2
11	Synthesis and interconversion of nucleotide di- and triphosphates ⁶⁵	10.55	CTPS2 CTPS1
12	NO-dependent CFTR activation (normal and CF) ²³	9.74	GUCY1B1 GUCY1A2

Sources

GO Terms for Nemaline Myopathy 7

Cellular components related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II, core complex	GO:0005665	8.96	POLR2D POLR2C
2	cytoophidium	GO:0097268	8.62	CTPS2 CTPS1

Biological processes related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of gene silencing by miRNA	GO:0060964	9.57	POLR2D POLR2C
2	fibroblast growth factor receptor signaling pathway	GO:0008543	9.56	POLR2D POLR2C
3	transcription elongation from RNA polymerase II promoter	GO:0006368	9.55	POLR2D POLR2C
4	transcription-coupled nucleotide-excision repair	GO:0006283	9.54	POLR2D POLR2C
5	snRNA transcription by RNA polymerase II	GO:0042795	9.52	POLR2D POLR2C
6	somatic stem cell population maintenance	GO:0035019	9.51	POLR2D POLR2C
7	RNA metabolic process	GO:0016070	9.49	POLR2D POLR2C
8	7-methylguanosine mRNA capping	GO:0006370	9.48	POLR2D POLR2C
9	nucleobase-containing small molecule interconversion	GO:0015949	9.46	CTPS2 CTPS1
10	positive regulation of viral transcription	GO:0050434	9.43	POLR2D POLR2C
11	glutamine metabolic process	GO:0006541	9.4	CTPS2 CTPS1
12	cyclic nucleotide biosynthetic process	GO:0009190	9.37	GUCY1B1 GUCY1A2
13	CTP biosynthetic process	GO:0006241	9.32	CTPS2 CTPS1
14	cGMP biosynthetic process	GO:0006182	9.26	GUCY1B1 GUCY1A2
15	pyrimidine nucleotide biosynthetic process	GO:0006221	9.16	CTPS2 CTPS1
16	pyrimidine nucleobase biosynthetic process	GO:0019856	8.96	CTPS2 CTPS1
17	'de novo' CTP biosynthetic process	GO:0044210	8.62	CTPS2 CTPS1

Molecular functions related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleotide binding	GO:0000166	9.72	POLR2D GUCY1B1 GUCY1A2 CTPS2 CTPS1
2	DNA-directed 5'-3' RNA polymerase activity	GO:0003899	9.26	POLR2D POLR2C
3	phosphorus-oxygen lyase activity	GO:0016849	9.16	GUCY1B1 GUCY1A2
4	guanylate cyclase activity	GO:0004383	8.96	GUCY1B1 GUCY1A2
5	CTP synthase activity	GO:0003883	8.62	CTPS2 CTPS1

Sources

Sources for Nemaline Myopathy 7

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

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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

Nemaline Myopathy 7 (NEM7)

Aliases & Classifications for Nemaline Myopathy 7

MalaCards integrated aliases for Nemaline Myopathy 7:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Nemaline Myopathy 7

Related Diseases for Nemaline Myopathy 7

Diseases in the Nemaline Myopathy family:

Diseases related to Nemaline Myopathy 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Nemaline Myopathy 7:

Symptoms & Phenotypes for Nemaline Myopathy 7

Human phenotypes related to Nemaline Myopathy 7:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Nemaline Myopathy 7

Genetic Tests for Nemaline Myopathy 7

Genetic tests related to Nemaline Myopathy 7:

Anatomical Context for Nemaline Myopathy 7

MalaCards organs/tissues related to Nemaline Myopathy 7:

Publications for Nemaline Myopathy 7

Articles related to Nemaline Myopathy 7:

Genes for Nemaline Myopathy 7

Genes related to Nemaline Myopathy 7 (1 elite genes):

Variations for Nemaline Myopathy 7

ClinVar genetic disease variations for Nemaline Myopathy 7:

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 7:

Expression for Nemaline Myopathy 7

Pathways for Nemaline Myopathy 7

Pathways related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

GO Terms for Nemaline Myopathy 7

Cellular components related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

Biological processes related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

Molecular functions related to Nemaline Myopathy 7 according to GeneCards Suite gene sharing:

Sources for Nemaline Myopathy 7