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

NEM7 MCID: NML010 MIFTS: 40	Nemaline Myopathy 7 (NEM7) Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Nemaline Myopathy 7, Autosomal Recessive ⁵⁶ ¹² ⁷³ ²⁹

Nem7 ⁵⁶ ¹² ⁷³

Cfl2-Related Nemaline Myopathy ⁷³

Myopathy, Nemaline, Type 7 ³⁹

Characteristics:

OMIM:

⁵⁶

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 Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110934

OMIM ⁵⁶ 610687

OMIM Phenotypic Series ⁵⁶ PS161800

MeSH ⁴³ 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 : ⁵⁶ 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)

MalaCards based summary : Nemaline Myopathy 7, also known as nemaline myopathy 7, autosomal recessive, is related to nemaline myopathy 10 and nemaline myopathy 2. An important gene associated with Nemaline Myopathy 7 is CFL2 (Cofilin 2), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and cGMP-PKG signaling pathway. Affiliated tissues include skeletal muscle, and related phenotypes are respiratory insufficiency due to muscle weakness and muscular hypotonia

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	nemaline myopathy 2	10.0	KBTBD13 CFL2
3	nemaline myopathy 5	9.9	POLR2D KBTBD13
4	congenital structural myopathy	9.7	KBTBD13 CFL2

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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	muscular hypotonia ³¹		HP:0001252
3	muscle weakness ³¹		HP:0001324
4	gait disturbance ³¹		HP:0001288
5	high palate ³¹		HP:0000218
6	nemaline bodies ³¹		HP:0003798
7	joint hypermobility ³¹		HP:0001382
8	areflexia ³¹		HP:0001284
9	delayed gross motor development ³¹		HP:0002194
10	myofibrillar myopathy ³¹		HP:0003715
11	generalized hypotonia ³¹		HP:0001290
12	minicore myopathy ³¹		HP:0003789
13	neck muscle weakness ³¹		HP:0000467
14	gowers sign ³¹		HP:0003391

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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	8.92	GUCY1A2 NPR1 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

Sources

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. ⁵⁶ ⁶	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. ⁵⁶ ⁶	Agrawal PB...Beggs AH	17160903	2007
3	Clinical utility gene card for: nemaline myopathy. ⁶	Nowak KJ...Laing NG	22510848	2012
4	Nemaline Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶	North KN...Ryan MM	20301465	2002
5	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	PubmedIds
1	CFL2	Cofilin 2	Protein Coding	1323.71	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301465 17160903 22560515 (more) 22510848
2	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	7.68	DISEASES inferred ¹⁵
3	POLR2D	RNA Polymerase II Subunit D	Protein Coding	7.14	DISEASES inferred ¹⁵
4	CTPS2	CTP Synthase 2	Protein Coding	7.04	DISEASES inferred ¹⁵
5	GUCY1A2	Guanylate Cyclase 1 Soluble Subunit Alpha 2	Protein Coding	6.83	DISEASES inferred ¹⁵
6	POLR2C	RNA Polymerase II Subunit C	Protein Coding	6.69	DISEASES inferred ¹⁵
7	GUCY1B1	Guanylate Cyclase 1 Soluble Subunit Beta 1	Protein Coding	6.56	DISEASES inferred ¹⁵
8	CTPS1	CTP Synthase 1	Protein Coding	5.96	DISEASES inferred ¹⁵
9	NPR1	Natriuretic Peptide Receptor 1	Protein Coding	5.64	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 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CFL2	NC_000014.9:g.(?_34712845)_(34714560_?)del	deletion	Pathogenic	583485		14:35182051-35183766	14:34712845-34714560
2	CFL2	NC_000014.9:g.(?_34710372)_(34713686_?)del	deletion	Pathogenic	657372		14:35179578-35182892	14:34710372-34713686
3	CFL2	NM_138638.5(CFL2):c.338del (p.Ser113fs)	deletion	Pathogenic	800930		14:35182316-35182316	14:34713110-34713110
4	CFL2	NM_138638.5(CFL2):c.103G>A (p.Ala35Thr)	SNV	Pathogenic	8160	rs80358250	14:35182668-35182668	14:34713462-34713462
5	CFL2	NM_138638.5(CFL2):c.21G>A (p.Val7=)	SNV	Conflicting interpretations of pathogenicity	195369	rs149700171	14:35182750-35182750	14:34713544-34713544
6	CFL2	NM_138638.5(CFL2):c.4-198A>G	SNV	Uncertain significance	313098	rs143465827	14:35182965-35182965	14:34713759-34713759
7	CFL2	NM_138638.5(CFL2):c.76C>G (p.Gln26Glu)	SNV	Uncertain significance	882972		14:35182695-35182695	14:34713489-34713489
8	CFL2	NM_138638.5(CFL2):c.19G>A (p.Val7Met)	SNV	Uncertain significance	60554	rs397515451	14:35182752-35182752	14:34713546-34713546
9	CFL2	NM_138638.5(CFL2):c.457T>G (p.Leu153Val)	SNV	Uncertain significance	128713	rs587780312	14:35182115-35182115	14:34712909-34712909
10	CFL2	NM_138638.5(CFL2):c.*473A>G	SNV	Uncertain significance	881820		14:35181598-35181598	14:34712392-34712392
11	CFL2	NM_138638.5(CFL2):c.*281A>G	SNV	Uncertain significance	882970		14:35181790-35181790	14:34712584-34712584
12	CFL2	NM_138638.5(CFL2):c.*995T>C	SNV	Uncertain significance	313087	rs749572493	14:35181076-35181076	14:34711870-34711870
13	CFL2	NM_138638.5(CFL2):c.*541A>G	SNV	Uncertain significance	313090	rs144345993	14:35181530-35181530	14:34712324-34712324
14	CFL2	NM_138638.5(CFL2):c.*362G>A	SNV	Uncertain significance	313092	rs553554454	14:35181709-35181709	14:34712503-34712503
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.*2340T>G	SNV	Uncertain significance	313075	rs886050473	14:35179731-35179731	14:34710525-34710525
17	CFL2	NC_000014.9:g.(?_34710372)_(34713686_?)dup	duplication	Uncertain significance	833241		14:35179578-35182892
18	CFL2	NM_138638.5(CFL2):c.17C>G (p.Thr6Arg)	SNV	Uncertain significance	840465		14:35182754-35182754	14:34713548-34713548
19	CFL2	NM_138638.5(CFL2):c.*2248G>A	SNV	Uncertain significance	882916		14:35179823-35179823	14:34710617-34710617
20	CFL2	NM_138638.5(CFL2):c.*1886G>A	SNV	Uncertain significance	882917		14:35180185-35180185	14:34710979-34710979
21	CFL2	NM_138638.5(CFL2):c.*1810T>A	SNV	Uncertain significance	883712		14:35180261-35180261	14:34711055-34711055
22	CFL2	NM_138638.5(CFL2):c.*1759A>G	SNV	Uncertain significance	883713		14:35180312-35180312	14:34711106-34711106
23	CFL2	NM_138638.5(CFL2):c.*1620T>C	SNV	Uncertain significance	883714		14:35180451-35180451	14:34711245-34711245
24	CFL2	NM_138638.5(CFL2):c.*1507C>T	SNV	Uncertain significance	883715		14:35180564-35180564	14:34711358-34711358
25	CFL2	NM_138638.5(CFL2):c.388G>C (p.Gly130Arg)	SNV	Uncertain significance	583009	rs1566525113	14:35182266-35182266	14:34713060-34713060
26	CFL2	NC_000014.8:g.(?_35182051)_(35183766_?)dup	duplication	Uncertain significance	583711		14:35182051-35183766	14:34712845-34714560
27	CFL2	NM_138638.5(CFL2):c.471_473AGT[1] (p.Val159del)	short repeat	Uncertain significance	662117		14:35182096-35182098	14:34712890-34712892
28	CFL2	NM_138638.5(CFL2):c.328C>T (p.Pro110Ser)	SNV	Uncertain significance	650607		14:35182326-35182326	14:34713120-34713120
29	CFL2	NM_138638.5(CFL2):c.54G>A (p.Met18Ile)	SNV	Uncertain significance	661578		14:35182717-35182717	14:34713511-34713511
30	CFL2	NM_138638.5(CFL2):c.*1030C>G	SNV	Uncertain significance	881372		14:35181041-35181041	14:34711835-34711835
31	CFL2	NM_138638.5(CFL2):c.*738A>G	SNV	Uncertain significance	881374		14:35181333-35181333	14:34712127-34712127
32	CFL2	NM_138638.5(CFL2):c.*720A>T	SNV	Uncertain significance	881375		14:35181351-35181351	14:34712145-34712145
33	CFL2	NM_138638.5(CFL2):c.*293G>A	SNV	Uncertain significance	313093	rs774843860	14:35181778-35181778	14:34712572-34712572
34	CFL2	NM_138638.5(CFL2):c.4-172C>T	SNV	Uncertain significance	313097	rs190226324	14:35182939-35182939	14:34713733-34713733
35	CFL2	NM_138638.5(CFL2):c.*1070G>A	SNV	Uncertain significance	313085	rs767101584	14:35181001-35181001	14:34711795-34711795
36	CFL2	NM_138638.5(CFL2):c.*2284C>T	SNV	Uncertain significance	313076	rs372609152	14:35179787-35179787	14:34710581-34710581
37	CFL2	NM_138638.5(CFL2):c.*1885C>T	SNV	Uncertain significance	313081	rs775859581	14:35180186-35180186	14:34710980-34710980
38	CFL2	NM_138638.5(CFL2):c.*1036G>A	SNV	Uncertain significance	313086	rs150492527	14:35181035-35181035	14:34711829-34711829
39	CFL2	NM_138638.5(CFL2):c.*671C>T	SNV	Likely benign	881818		14:35181400-35181400	14:34712194-34712194
40	CFL2	NM_138638.5(CFL2):c.*605T>C	SNV	Likely benign	881819		14:35181466-35181466	14:34712260-34712260
41	CFL2	NM_138638.5(CFL2):c.*905A>G	SNV	Likely benign	881373		14:35181166-35181166	14:34711960-34711960
42	CFL2	NM_138638.5(CFL2):c.389-9del	deletion	Likely benign	465805	rs1555333750	14:35182192-35182192	14:34712986-34712986
43	CFL2	NM_138638.5(CFL2):c.276A>G (p.Lys92=)	SNV	Likely benign	753309		14:35182495-35182495	14:34713289-34713289
44	CFL2	NM_138638.5(CFL2):c.495A>G (p.Pro165=)	SNV	Likely benign	743607		14:35182077-35182077	14:34712871-34712871
45	CFL2	NM_138638.5(CFL2):c.*1268C>T	SNV	Likely benign	883716		14:35180803-35180803	14:34711597-34711597
46	CFL2	NM_138638.5(CFL2):c.*40A>G	SNV	Likely benign	882971		14:35182031-35182031	14:34712825-34712825
47	CFL2	NM_138638.5(CFL2):c.255C>T (p.Tyr85=)	SNV	Likely benign	390982	rs1057523939	14:35182516-35182516	14:34713310-34713310
48	CFL2	NM_138638.5(CFL2):c.15T>C (p.Val5=)	SNV	Benign/Likely benign	261430	rs542840152	14:35182756-35182756	14:34713550-34713550
49	CFL2	NM_138638.5(CFL2):c.*1682A>T	SNV	Benign	313082	rs712301	14:35180389-35180389	14:34711183-34711183
50	CFL2	NM_138638.5(CFL2):c.*925T>C	SNV	Benign	313088	rs11539496	14:35181146-35181146	14:34711940-34711940

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

Sources

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 15)

#	Super pathways	Score	Top Affiliating Genes
1	Sertoli-Sertoli Cell Junction Dynamics ⁶³ Show member pathways Epithelial Tight Junctions ⁶³ Germ Cell-Sertoli Cell Junction Dynamics ⁶³	12.46	NPR1 GUCY1B1 GUCY1A2 CFL2
2	cGMP-PKG signaling pathway ³⁶ Show member pathways Adrenergic signaling in cardiomyocytes ³⁶	12.19	NPR1 GUCY1B1 GUCY1A2
3	Oxytocin signaling pathway ³⁶ Show member pathways Vascular smooth muscle contraction ³⁶	12.11	NPR1 GUCY1B1 GUCY1A2
4	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	11.7	NPR1 GUCY1B1 GUCY1A2 CTPS2 CTPS1
5	ATP/ITP metabolism ²²	11.48	POLR2D POLR2C
6	Long-term depression ³⁶	11.31	GUCY1B1 GUCY1A2
7	Visual Cycle in Retinal Rods ⁶³	11.3	NPR1 GUCY1B1 GUCY1A2
8	mRNA Splicing - Minor Pathway ⁶⁵	11.25	POLR2D POLR2C
9	Transcriptional regulation of pluripotent stem cells ⁶⁵ Show member pathways POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation ⁶⁵	11.18	POLR2D POLR2C
10	Nitric oxide stimulates guanylate cyclase ⁶⁵ Show member pathways cGMP effects ⁶⁵	11.08	GUCY1B1 GUCY1A2
11	Renin secretion ³⁶	10.97	NPR1 GUCY1B1 GUCY1A2
12	PIWI-interacting RNA (piRNA) biogenesis ⁶⁵	10.9	POLR2D POLR2C
13	Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR2 ²²	10.85	GUCY1B1 GUCY1A2
14	Synthesis and interconversion of nucleotide di- and triphosphates ⁶⁵	10.72	CTPS2 CTPS1
15	NO-dependent CFTR activation (normal and CF) ²²	10.37	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 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of gene silencing by miRNA	GO:0060964	9.58	POLR2D POLR2C
2	fibroblast growth factor receptor signaling pathway	GO:0008543	9.57	POLR2D POLR2C
3	transcription elongation from RNA polymerase II promoter	GO:0006368	9.56	POLR2D POLR2C
4	transcription-coupled nucleotide-excision repair	GO:0006283	9.55	POLR2D POLR2C
5	snRNA transcription by RNA polymerase II	GO:0042795	9.54	POLR2D POLR2C
6	somatic stem cell population maintenance	GO:0035019	9.52	POLR2D POLR2C
7	RNA metabolic process	GO:0016070	9.51	POLR2D POLR2C
8	7-methylguanosine mRNA capping	GO:0006370	9.49	POLR2D POLR2C
9	positive regulation of viral transcription	GO:0050434	9.48	POLR2D POLR2C
10	nucleobase-containing small molecule interconversion	GO:0015949	9.46	CTPS2 CTPS1
11	cGMP-mediated signaling	GO:0019934	9.43	NPR1 GUCY1B1
12	glutamine metabolic process	GO:0006541	9.4	CTPS2 CTPS1
13	CTP biosynthetic process	GO:0006241	9.37	CTPS2 CTPS1
14	pyrimidine nucleotide biosynthetic process	GO:0006221	9.32	CTPS2 CTPS1
15	pyrimidine nucleobase biosynthetic process	GO:0019856	9.26	CTPS2 CTPS1
16	'de novo' CTP biosynthetic process	GO:0044210	9.16	CTPS2 CTPS1
17	cyclic nucleotide biosynthetic process	GO:0009190	9.13	NPR1 GUCY1B1 GUCY1A2
18	cGMP biosynthetic process	GO:0006182	8.8	NPR1 GUCY1B1 GUCY1A2

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	9.73	POLR2D NPR1 GUCY1B1 GUCY1A2 CTPS2 CTPS1
2	GTP binding	GO:0005525	9.58	NPR1 GUCY1B1 GUCY1A2
3	lyase activity	GO:0016829	9.5	NPR1 GUCY1B1 GUCY1A2
4	DNA-directed 5'-3' RNA polymerase activity	GO:0003899	9.37	POLR2D POLR2C
5	CTP synthase activity	GO:0003883	9.16	CTPS2 CTPS1
6	phosphorus-oxygen lyase activity	GO:0016849	9.13	NPR1 GUCY1B1 GUCY1A2
7	guanylate cyclase activity	GO:0004383	8.8	NPR1 GUCY1B1 GUCY1A2

Sources

Sources for Nemaline Myopathy 7

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

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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:

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