MCID: CNT004
MIFTS: 53

Centronuclear Myopathy

Categories: Rare diseases, Muscle diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Centronuclear Myopathy

MalaCards integrated aliases for Centronuclear Myopathy:

Name: Centronuclear Myopathy 12 76 53 25 37 55 6 15 73
Myopathy, Centronuclear 76 25 29 13 6 40
Myotubular Myopathy 12 76 29 6
Myopathies, Structural, Congenital 44
Congenital Structural Myopathy 73
Myopathy, Myotubular 76
Cnm 25

Classifications:



Summaries for Centronuclear Myopathy

NIH Rare Diseases : 53 Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Centronuclear Myopathy Autosomal Recessive Centronuclear Myopathy The cause of the condition and the associated signs and symptoms vary by subtype. For more information, click on the link of interest above. Treatment is based on the signs and symptoms present in each person and may include physical and/or occupational therapy and assistive devices to help with mobility, eating and/or breathing.

MalaCards based summary : Centronuclear Myopathy, also known as myopathy, centronuclear, is related to myopathy, centronuclear, x-linked and myopathy, centronuclear, 2, and has symptoms including muscle cramp, muscle rigidity and muscle spasticity. An important gene associated with Centronuclear Myopathy is DNM2 (Dynamin 2), and among its related pathways/superpathways are Inositol phosphate metabolism and Phosphatidylinositol signaling system. Affiliated tissues include skeletal muscle, testes and heart, and related phenotypes are mask-like facies and ptosis

Disease Ontology : 12 A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.

Genetics Home Reference : 25 Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.

Wikipedia : 76 Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally... more...

Related Diseases for Centronuclear Myopathy

Diseases in the Centronuclear Myopathy family:

Myopathy, Centronuclear, 1 Myopathy, Centronuclear, 2
Myopathy, Centronuclear, 3 Myopathy, Centronuclear, 4
Myopathy, Centronuclear, 5

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 myopathy, centronuclear, x-linked 34.3 DNM2 MTM1
2 myopathy, centronuclear, 2 33.9 BIN1 SPEG TTN
3 myopathy, centronuclear, 1 33.1 BIN1 DNM2 MTMR14 MYF6 RYR1
4 myopathy, congenital 31.5 DMD DNM2 HACD1 MTM1 RYR1
5 congenital fiber-type disproportion 30.1 DMD HACD1 RYR1
6 neuromuscular disease 29.6 DMD MTM1 RYR1 TTN
7 muscular dystrophy 28.9 CAV3 DMD RYR1 TTN
8 myopathy 27.8 BIN1 CAV3 DMD DNM2 HACD1 MTM1
9 myotubular myopathy with abnormal genital development 12.1
10 myopathy, centronuclear, 5 11.7
11 myopathy, centronuclear, 6, with fiber-type disproportion 11.7
12 myopathy, centronuclear, 4 11.2
13 myopathy, centronuclear, 3 11.0
14 lethal congenital contracture syndrome 5 11.0
15 minicore myopathy with external ophthalmoplegia 11.0
16 brachial plexus neuritis 10.7 DNM2 MTM1
17 cardioneuromyopathy with hyaline masses and nemaline rods 10.5 DMD TTN
18 central core myopathy 10.5 MTM1 RYR1
19 reducing body myopathy 10.5 DMD TTN
20 asphyxia neonatorum 10.4 MTM1 MTMR14 TTN
21 charcot-marie-tooth disease, dominant intermediate b 10.4 DNM2 MTM1 RYR1
22 ptosis 10.3 DNM2 MTM1 RYR1
23 brody myopathy 10.3 DMD RYR1
24 isolated hyperckemia 10.3 CAV3 DMD
25 myotonia 10.2
26 creatine phosphokinase, elevated serum 10.2 CAV3 DMD
27 rigid spine muscular dystrophy 1 10.2 DMD RYR1 TTN
28 neuropathy 10.2
29 type i 10.2
30 myopathy, congenital, with fiber-type disproportion 10.1 HACD1 RYR1
31 cataract 10.1
32 dilated cardiomyopathy 10.1
33 neutropenia 10.1
34 muscular dystrophy, limb-girdle, type 2f 10.0 DMD TTN
35 muscle disorders 10.0 CAV3 RYR1
36 muscular dystrophy, limb-girdle, type 2b 10.0 CAV3 DMD TTN
37 distal muscular dystrophy 10.0 CAV3 DMD TTN
38 charcot-marie-tooth disease, demyelinating, type 4f 10.0 MTMR2 SBF2
39 charcot-marie-tooth disease, type 4j 9.9 MTMR2 SBF2
40 central core disease of muscle 9.9
41 multiple sclerosis 9.9
42 aging 9.9
43 polyglucosan body myopathy 1 with or without immunodeficiency 9.9
44 congestive heart failure 9.9
45 emery-dreifuss muscular dystrophy 9.9
46 peripheral nervous system disease 9.9
47 malignant hyperthermia 9.9
48 myotonic dystrophy 9.9
49 myotonia atrophica 9.9
50 aneurysm 9.9

Graphical network of the top 20 diseases related to Centronuclear Myopathy:



Diseases related to Centronuclear Myopathy

Symptoms & Phenotypes for Centronuclear Myopathy

Human phenotypes related to Centronuclear Myopathy:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 mask-like facies 32 frequent (33%) HP:0000298
2 ptosis 32 frequent (33%) HP:0000508
3 external ophthalmoplegia 32 frequent (33%) HP:0000544
4 seizures 32 frequent (33%) HP:0001250
5 muscular hypotonia 32 hallmark (90%) HP:0001252
6 gait disturbance 32 hallmark (90%) HP:0001288
7 reduced tendon reflexes 32 frequent (33%) HP:0001315
8 scoliosis 32 frequent (33%) HP:0002650
9 respiratory failure 32 frequent (33%) HP:0002878
10 skeletal muscle atrophy 32 hallmark (90%) HP:0003202
11 progressive muscle weakness 32 hallmark (90%) HP:0003323
12 emg abnormality 32 hallmark (90%) HP:0003457
13 centrally nucleated skeletal muscle fibers 32 hallmark (90%) HP:0003687
14 heart block 32 frequent (33%) HP:0012722

UMLS symptoms related to Centronuclear Myopathy:


muscle cramp, muscle rigidity, muscle spasticity, muscle weakness, myalgia

GenomeRNAi Phenotypes related to Centronuclear Myopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.36 BIN1 CAV3 CDKN3 DMD DNM2 HACD1

MGI Mouse Phenotypes related to Centronuclear Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 RYR1 SPEG BIN1 TTN CAV3 DMD
2 homeostasis/metabolism MP:0005376 9.7 MTMR14 MYF6 RYR1 SBF1 BIN1 TTN
3 muscle MP:0005369 9.36 MYF6 RYR1 SPEG BIN1 TTN CAV3

Drugs & Therapeutics for Centronuclear Myopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Gene Transfer Clinical Study in X-Linked Myotubular Myopathy Recruiting NCT03199469 Phase 1, Phase 2
2 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
3 Myotubular Myopathy Event Study Completed NCT01840657
4 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
5 Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies Recruiting NCT03351270 Not Applicable
6 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Recruiting NCT02453152
7 A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Recruiting NCT02231697
8 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
9 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
10 A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects Active, not recruiting NCT02704273

Search NIH Clinical Center for Centronuclear Myopathy

Cochrane evidence based reviews: myopathies, structural, congenital

Genetic Tests for Centronuclear Myopathy

Genetic tests related to Centronuclear Myopathy:

# Genetic test Affiliating Genes
1 Myotubular Myopathy 29
2 Myopathy, Centronuclear 29

Anatomical Context for Centronuclear Myopathy

MalaCards organs/tissues related to Centronuclear Myopathy:

41
Skeletal Muscle, Testes, Heart

Publications for Centronuclear Myopathy

Articles related to Centronuclear Myopathy:

(show top 50) (show all 188)
# Title Authors Year
1
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. ( 29246969 )
2018
2
Giant biventricular aneurysms: a novel cardiac phenotype in myotubular/centronuclear myopathy. ( 29668875 )
2018
3
A Roma founder <i>BIN1</i> mutation causes a novel phenotype of centronuclear myopathy with rigid spine. ( 29950440 )
2018
4
A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation. ( 28740838 )
2017
5
Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. ( 28637766 )
2017
6
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells. ( 28676641 )
2017
7
Impaired excitation-contraction coupling in muscle fibres from the dynamin2<sup>R465W</sup>mouse model of centronuclear myopathy. ( 29071728 )
2017
8
Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1. ( 29103045 )
2017
9
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. ( 27939133 )
2017
10
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. ( 28818389 )
2017
11
Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins. ( 27989427 )
2017
12
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy. ( 28624463 )
2017
13
Clinical, Electrophysiology, and Pathology Features of Dynamin Centronuclear Myopathy: A Case Report and Review of Literature. ( 27861221 )
2016
14
Erratum: Reply: Respiratory motor function in centronuclear myopathy. ( 27198895 )
2016
15
DNM2 mutations in Chinese Han patients with centronuclear myopathy. ( 26908122 )
2016
16
Noninvasive Assessment of Neuromuscular Disease in Dogs: Use of the 6-minute Walk Test to Assess Submaximal Exercise Tolerance in Dogs with Centronuclear Myopathy. ( 27012153 )
2016
17
Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy. ( 27870637 )
2016
18
Adult- Onset Centronuclear Myopathy. ( 27739277 )
2016
19
[Retraction] Clinical, pathological and genetic characteristics of autosomal dominant inherited dynaminA 2 centronuclear myopathy. ( 27176730 )
2016
20
Clinical, pathological and genetic characteristics of autosomal dominant inherited dynaminA 2 centronuclear myopathy. ( 27035234 )
2016
21
Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation. ( 27854204 )
2016
22
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2. ( 27343996 )
2016
23
The kalaemic and neuromuscular effects of succinylcholine in centronuclear myopathy: A pilot investigation in a canine model. ( 25603385 )
2015
24
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. ( 25957634 )
2015
25
Respiratory motor function in centronuclear myopathy. ( 26561983 )
2015
26
A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres. ( 25633151 )
2015
27
Neuromuscular blocking effects of vecuronium in dogs with autosomal-recessive centronuclear myopathy. ( 25815571 )
2015
28
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy. ( 26273216 )
2015
29
Neuromuscular blocking effects of cisatracurium and its antagonism with neostigmine in a canine model of autosomal-recessive centronuclear myopathy. ( 26582854 )
2015
30
The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. ( 25492887 )
2015
31
Identification of the mutation causing centronuclear myopathy in a border collie. ( 25081885 )
2014
32
Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy. ( 24465259 )
2014
33
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. ( 24569376 )
2014
34
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. ( 24549043 )
2014
35
Contraction versus contracture and centronuclear myopathy versus central part myopathy in malignant hyperthermia. ( 24794461 )
2014
36
N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy. ( 25262827 )
2014
37
Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization. ( 24755653 )
2014
38
Dynamin 2 the rescue for centronuclear myopathy. ( 24569368 )
2014
39
Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. ( 25501959 )
2014
40
Suspected congenital centronuclear myopathy in an Arabian-cross foal. ( 25410957 )
2014
41
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. ( 25260562 )
2014
42
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. ( 25087613 )
2014
43
A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells. ( 24016602 )
2014
44
A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy. ( 23374900 )
2013
45
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. ( 23818870 )
2013
46
Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation. ( 22924779 )
2013
47
Myotonia in DNM2-related centronuclear myopathy. ( 24366529 )
2013
48
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. ( 23394783 )
2013
49
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. ( 23975875 )
2013
50
Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? ( 23975873 )
2013

Variations for Centronuclear Myopathy

ClinVar genetic disease variations for Centronuclear Myopathy:

6
(show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNM2 NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln) single nucleotide variant Pathogenic rs121909089 GRCh37 Chromosome 19, 10904509: 10904509
2 DNM2 NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln) single nucleotide variant Pathogenic rs121909089 GRCh38 Chromosome 19, 10793833: 10793833
3 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh37 Chromosome 19, 10904508: 10904508
4 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh38 Chromosome 19, 10793832: 10793832
5 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh37 Chromosome 19, 10909219: 10909219
6 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh38 Chromosome 19, 10798543: 10798543
7 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh37 Chromosome 19, 10904505: 10904505
8 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh38 Chromosome 19, 10793829: 10793829
9 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic rs121909095 GRCh37 Chromosome 19, 10934538: 10934538
10 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic rs121909095 GRCh38 Chromosome 19, 10823862: 10823862
11 DNM2 NM_001005360.2(DNM2): c.235+12C> A single nucleotide variant Conflicting interpretations of pathogenicity rs147026993 GRCh37 Chromosome 19, 10870499: 10870499
12 DNM2 NM_001005360.2(DNM2): c.235+12C> A single nucleotide variant Conflicting interpretations of pathogenicity rs147026993 GRCh38 Chromosome 19, 10759823: 10759823
13 DNM2 NM_001005360.2(DNM2): c.822G> A (p.Thr274=) single nucleotide variant Conflicting interpretations of pathogenicity rs201763720 GRCh37 Chromosome 19, 10893769: 10893769
14 DNM2 NM_001005360.2(DNM2): c.822G> A (p.Thr274=) single nucleotide variant Conflicting interpretations of pathogenicity rs201763720 GRCh38 Chromosome 19, 10783093: 10783093
15 DNM2 NM_001005360.2(DNM2): c.1124T> A (p.Val375Glu) single nucleotide variant Likely pathogenic rs587783594 GRCh37 Chromosome 19, 10904527: 10904527
16 DNM2 NM_001005360.2(DNM2): c.1124T> A (p.Val375Glu) single nucleotide variant Likely pathogenic rs587783594 GRCh38 Chromosome 19, 10793851: 10793851
17 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh37 Chromosome 19, 10922947: 10922947
18 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh38 Chromosome 19, 10812271: 10812271
19 DNM2 NM_001005360.2(DNM2): c.1827C> T (p.Ser609=) single nucleotide variant Conflicting interpretations of pathogenicity rs371412466 GRCh37 Chromosome 19, 10934509: 10934509
20 DNM2 NM_001005360.2(DNM2): c.1827C> T (p.Ser609=) single nucleotide variant Conflicting interpretations of pathogenicity rs371412466 GRCh38 Chromosome 19, 10823833: 10823833
21 DNM2 NM_001005360.2(DNM2): c.1862T> C (p.Leu621Pro) single nucleotide variant Pathogenic rs587783597 GRCh37 Chromosome 19, 10934544: 10934544
22 DNM2 NM_001005360.2(DNM2): c.1862T> C (p.Leu621Pro) single nucleotide variant Pathogenic rs587783597 GRCh38 Chromosome 19, 10823868: 10823868
23 DNM2 NM_001005360.2(DNM2): c.1880C> G (p.Pro627Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587783598 GRCh37 Chromosome 19, 10934562: 10934562
24 DNM2 NM_001005360.2(DNM2): c.1880C> G (p.Pro627Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587783598 GRCh38 Chromosome 19, 10823886: 10823886
25 DNM2 NM_001005360.2(DNM2): c.2106G> C (p.Ser702=) single nucleotide variant Uncertain significance rs554971107 GRCh37 Chromosome 19, 10939759: 10939759
26 DNM2 NM_001005360.2(DNM2): c.2106G> C (p.Ser702=) single nucleotide variant Uncertain significance rs554971107 GRCh38 Chromosome 19, 10829083: 10829083
27 MTM1 NM_000252.2(MTM1): c.1089dupA (p.Val364Serfs) duplication Pathogenic rs797045710 GRCh37 Chromosome X, 149826329: 149826329
28 MTM1 NM_000252.2(MTM1): c.1089dupA (p.Val364Serfs) duplication Pathogenic rs797045710 GRCh38 Chromosome X, 150657856: 150657856
29 RYR1 NM_000540.2(RYR1): c.3877C> A (p.Pro1293Thr) single nucleotide variant not provided rs146407179 GRCh38 Chromosome 19, 38473488: 38473488
30 RYR1 NM_000540.2(RYR1): c.3877C> A (p.Pro1293Thr) single nucleotide variant not provided rs146407179 GRCh37 Chromosome 19, 38964128: 38964128
31 MTM1 NM_000252.2(MTM1): c.1053+5G> A single nucleotide variant Uncertain significance GRCh37 Chromosome X, 149818379: 149818379
32 MTM1 NM_000252.2(MTM1): c.1053+5G> A single nucleotide variant Uncertain significance GRCh38 Chromosome X, 150649906: 150649906

Copy number variations for Centronuclear Myopathy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 41408 10 17671963 17699379 Insertion PTPLA Centronuclear myopathy

Expression for Centronuclear Myopathy

Search GEO for disease gene expression data for Centronuclear Myopathy.

Pathways for Centronuclear Myopathy

Pathways related to Centronuclear Myopathy according to KEGG:

37
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 Phosphatidylinositol signaling system hsa04070
3 Endocytosis hsa04144
4 Synaptic vesicle cycle hsa04721
5 Endocrine and other factor-regulated calcium reabsorption hsa04961

GO Terms for Centronuclear Myopathy

Cellular components related to Centronuclear Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.73 BIN1 DMD DNM2 MTMR2
2 sarcolemma GO:0042383 9.54 CAV3 DMD RYR1
3 dystrophin-associated glycoprotein complex GO:0016010 9.4 CAV3 DMD
4 Z disc GO:0030018 9.35 BIN1 CAV3 DMD RYR1 TTN
5 T-tubule GO:0030315 9.33 BIN1 CAV3 RYR1
6 I band GO:0031674 8.92 BIN1 MTM1 RYR1 TTN
7 cytoplasm GO:0005737 10.07 BIN1 CAV3 CDKN3 DMD DNM2 MTM1
8 cytosol GO:0005829 10.06 BIN1 CDKN3 DMD DNM2 MTM1 MTMR12

Biological processes related to Centronuclear Myopathy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.78 CDKN3 MTM1 MTMR14 MTMR2
2 muscle organ development GO:0007517 9.71 CAV3 DMD MYF6 SPEG
3 muscle contraction GO:0006936 9.67 CAV3 RYR1 TTN
4 peptidyl-tyrosine dephosphorylation GO:0035335 9.67 CDKN3 MTM1 MTMR14 MTMR2
5 protein dephosphorylation GO:0006470 9.55 CDKN3 MTM1 MTMR14 MTMR2 SBF1
6 phosphatidylinositol dephosphorylation GO:0046856 9.52 MTM1 MTMR2
7 skeletal muscle tissue regeneration GO:0043403 9.51 DMD MYF6
8 muscle cell cellular homeostasis GO:0046716 9.5 CAV3 DMD MTM1
9 detection of muscle stretch GO:0035995 9.46 CAV3 TTN
10 regulation of skeletal muscle contraction GO:0014819 9.43 CAV3 DMD
11 muscle cell differentiation GO:0042692 9.43 BIN1 DMD SPEG
12 nucleus localization GO:0051647 9.13 BIN1 CAV3 DMD
13 phosphatidylinositol biosynthetic process GO:0006661 9.02 MTM1 MTMR12 MTMR14 MTMR2 SBF1

Molecular functions related to Centronuclear Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.73 CAV3 DNM2 RYR1 TTN
2 phosphatase activity GO:0016791 9.63 CDKN3 MTM1 MTMR2
3 protein tyrosine phosphatase activity GO:0004725 9.62 CDKN3 MTM1 MTMR14 MTMR2
4 protease binding GO:0002020 9.58 BIN1 RYR1 TTN
5 protein tyrosine/serine/threonine phosphatase activity GO:0008138 9.54 CDKN3 MTMR2 SBF1
6 phosphatidylinositol-3-phosphatase activity GO:0004438 9.43 MTM1 MTMR14 MTMR2
7 nitric-oxide synthase binding GO:0050998 9.33 CAV3 DMD DNM2
8 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.13 MTM1 MTMR14 MTMR2
9 phosphatase regulator activity GO:0019208 8.8 MTMR12 SBF1 SBF2

Sources for Centronuclear Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....