CNM
MCID: CNT004
MIFTS: 53

Centronuclear Myopathy (CNM)

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

Aliases & Classifications for Centronuclear Myopathy

MalaCards integrated aliases for Centronuclear Myopathy:

Name: Centronuclear Myopathy 12 77 54 26 38 56 6 15 74
Myopathy, Centronuclear 77 26 30 13 6 41
Myotubular Myopathy 12 77 30 6
Myopathies, Structural, Congenital 45
Congenital Structural Myopathy 74
Myopathy, Myotubular 77
Cnm 26

Classifications:



Summaries for Centronuclear Myopathy

NIH Rare Diseases : 54 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 weakness, myalgia and muscle cramp. 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, heart and testes, and related phenotypes are muscular hypotonia and gait disturbance

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 : 26 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 : 77 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, 4 Myopathy, Centronuclear, 5

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 myopathy, centronuclear, x-linked 33.7 DNM2 MTM1
2 myopathy, centronuclear, 2 33.6 BIN1 RYR1 SPEG TTN
3 myopathy, centronuclear, 1 33.4 BIN1 DNM2 MTMR14 MYF6 RYR1
4 myopathy 31.4 CAV3 MTM1 MYF6 RYR1 TTN
5 muscle disorders 30.8 CAV3 RYR1
6 congenital fiber-type disproportion 30.2 DMD HACD1 RYR1
7 myopathy, congenital 30.0 DMD DNM2 HACD1 MTM1 RYR1
8 neuromuscular disease 30.0 DMD MTM1 RYR1 TTN
9 peripheral nervous system disease 29.9 DNM2 MTM1 MTMR2 TTN
10 muscular dystrophy 29.8 CAV3 DMD RYR1 TTN
11 scoliosis 29.7 DMD RYR1 TTN
12 tooth disease 29.4 MTMR2 SBF1 SBF2
13 charcot-marie-tooth disease 29.0 DNM2 MTM1 MTMR2 SBF1 SBF2
14 myotubular myopathy with abnormal genital development 12.3
15 myopathy, centronuclear, 5 11.9
16 myopathy, centronuclear, 6, with fiber-type disproportion 11.9
17 myopathy, centronuclear, 4 11.4
18 lethal congenital contracture syndrome 5 11.2
19 minicore myopathy with external ophthalmoplegia 11.2
20 neuropathy 10.4
21 myotonia 10.4
22 atrial standstill 1 10.3
23 peliosis hepatis 10.3
24 brachial plexus neuritis 10.3 DNM2 MTM1
25 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 DMD TTN
26 central core myopathy 10.2 MTM1 RYR1
27 dilated cardiomyopathy 10.2
28 neutropenia 10.2
29 reducing body myopathy 10.2 DMD TTN
30 charcot-marie-tooth disease, dominant intermediate b 10.2 DNM2 MTM1 RYR1
31 asphyxia neonatorum 10.2 MTM1 MTMR14 TTN
32 muscular dystrophy, limb-girdle, autosomal recessive 7 10.1 DMD TTN
33 ptosis 10.1 DNM2 MTM1 RYR1
34 isolated hyperckemia 10.1 CAV3 DMD
35 brody myopathy 10.1 DMD RYR1
36 autosomal recessive limb-girdle muscular dystrophy type 2b 10.1 CAV3 DMD
37 rigid spine muscular dystrophy 1 10.1 DMD RYR1 TTN
38 central core disease of muscle 10.1
39 multiple sclerosis 10.1
40 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
41 cataract 10.1
42 congestive heart failure 10.1
43 respiratory failure 10.1
44 emery-dreifuss muscular dystrophy 10.1
45 malignant hyperthermia 10.1
46 myotonic dystrophy 10.1
47 rere-related disorders 10.1
48 myotonia atrophica 10.1
49 spinal muscular atrophy 10.1
50 atrioventricular block 10.1

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:

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

UMLS symptoms related to Centronuclear Myopathy:


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

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

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 BIN1 CAV3 DMD DNM2 MTM1 MTMR12
2 homeostasis/metabolism MP:0005376 9.9 BIN1 CAV3 DMD DNM2 HACD1 MTM1
3 mortality/aging MP:0010768 9.65 BIN1 DMD DNM2 MTM1 MTMR2 MYF6
4 muscle MP:0005369 9.36 BIN1 CAV3 DMD DNM2 HACD1 MTM1

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 30
2 Myopathy, Centronuclear 30

Anatomical Context for Centronuclear Myopathy

MalaCards organs/tissues related to Centronuclear Myopathy:

42
Skeletal Muscle, Heart, Testes

Publications for Centronuclear Myopathy

Articles related to Centronuclear Myopathy:

(show top 50) (show all 191)
# Title Authors Year
1
Centronuclear myopathy with cardiomyopathy due to recessive titinopathy. ( 30681174 )
2019
2
Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model. ( 30733559 )
2019
3
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. ( 29246969 )
2018
4
Giant biventricular aneurysms: a novel cardiac phenotype in myotubular/centronuclear myopathy. ( 29668875 )
2018
5
A Roma founder <i>BIN1</i> mutation causes a novel phenotype of centronuclear myopathy with rigid spine. ( 29950440 )
2018
6
An integrated modelling methodology for estimating the prevalence of centronuclear myopathy. ( 30122513 )
2018
7
A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy. ( 30157964 )
2018
8
Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation. ( 30241883 )
2018
9
Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy. ( 30291191 )
2018
10
A rare case of centronuclear myopathy with DNM2 mutation: genotype-phenotype correlation. ( 28740838 )
2017
11
Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. ( 28637766 )
2017
12
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells. ( 28676641 )
2017
13
Impaired excitation-contraction coupling in muscle fibres from the dynamin2<sup>R465W</sup>mouse model of centronuclear myopathy. ( 29071728 )
2017
14
Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1. ( 29103045 )
2017
15
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. ( 27939133 )
2017
16
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. ( 28818389 )
2017
17
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
18
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy. ( 28624463 )
2017
19
Clinical, Electrophysiology, and Pathology Features of Dynamin Centronuclear Myopathy: A Case Report and Review of Literature. ( 27861221 )
2016
20
Erratum: Reply: Respiratory motor function in centronuclear myopathy. ( 27198895 )
2016
21
DNM2 mutations in Chinese Han patients with centronuclear myopathy. ( 26908122 )
2016
22
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
23
Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy. ( 27870637 )
2016
24
Adult- Onset Centronuclear Myopathy. ( 27739277 )
2016
25
[Retraction] Clinical, pathological and genetic characteristics of autosomal dominant inherited dynaminA 2 centronuclear myopathy. ( 27176730 )
2016
26
Clinical, pathological and genetic characteristics of autosomal dominant inherited dynaminA 2 centronuclear myopathy. ( 27035234 )
2016
27
Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation. ( 27854204 )
2016
28
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2. ( 27343996 )
2016
29
The kalaemic and neuromuscular effects of succinylcholine in centronuclear myopathy: A pilot investigation in a canine model. ( 25603385 )
2015
30
Respiratory motor function in centronuclear myopathy. ( 26561983 )
2015
31
A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres. ( 25633151 )
2015
32
Neuromuscular blocking effects of vecuronium in dogs with autosomal-recessive centronuclear myopathy. ( 25815571 )
2015
33
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy. ( 26273216 )
2015
34
Neuromuscular blocking effects of cisatracurium and its antagonism with neostigmine in a canine model of autosomal-recessive centronuclear myopathy. ( 26582854 )
2015
35
The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. ( 25492887 )
2015
36
Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype. ( 26035394 )
2015
37
Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation. ( 26199319 )
2015
38
Identification of the mutation causing centronuclear myopathy in a border collie. ( 25081885 )
2014
39
Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy. ( 24465259 )
2014
40
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. ( 24569376 )
2014
41
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. ( 24549043 )
2014
42
Contraction versus contracture and centronuclear myopathy versus central part myopathy in malignant hyperthermia. ( 24794461 )
2014
43
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
44
Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization. ( 24755653 )
2014
45
Dynamin 2 the rescue for centronuclear myopathy. ( 24569368 )
2014
46
Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. ( 25501959 )
2014
47
Suspected congenital centronuclear myopathy in an Arabian-cross foal. ( 25410957 )
2014
48
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. ( 25260562 )
2014
49
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. ( 25087613 )
2014
50
A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells. ( 24016602 )
2014

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.235+12C> A single nucleotide variant Conflicting interpretations of pathogenicity rs147026993 GRCh37 Chromosome 19, 10870499: 10870499
2 DNM2 NM_001005360.2(DNM2): c.235+12C> A single nucleotide variant Conflicting interpretations of pathogenicity rs147026993 GRCh38 Chromosome 19, 10759823: 10759823
3 DNM2 NM_001005360.2(DNM2): c.822G> A (p.Thr274=) single nucleotide variant Conflicting interpretations of pathogenicity rs201763720 GRCh37 Chromosome 19, 10893769: 10893769
4 DNM2 NM_001005360.2(DNM2): c.822G> A (p.Thr274=) single nucleotide variant Conflicting interpretations of pathogenicity rs201763720 GRCh38 Chromosome 19, 10783093: 10783093
5 DNM2 NM_001005360.2(DNM2): c.1124T> A (p.Val375Glu) single nucleotide variant Likely pathogenic rs587783594 GRCh37 Chromosome 19, 10904527: 10904527
6 DNM2 NM_001005360.2(DNM2): c.1124T> A (p.Val375Glu) single nucleotide variant Likely pathogenic rs587783594 GRCh38 Chromosome 19, 10793851: 10793851
7 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh37 Chromosome 19, 10922947: 10922947
8 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh38 Chromosome 19, 10812271: 10812271
9 DNM2 NM_001005360.2(DNM2): c.1827C> T (p.Ser609=) single nucleotide variant Conflicting interpretations of pathogenicity rs371412466 GRCh37 Chromosome 19, 10934509: 10934509
10 DNM2 NM_001005360.2(DNM2): c.1827C> T (p.Ser609=) single nucleotide variant Conflicting interpretations of pathogenicity rs371412466 GRCh38 Chromosome 19, 10823833: 10823833
11 DNM2 NM_001005360.2(DNM2): c.1862T> C (p.Leu621Pro) single nucleotide variant Pathogenic rs587783597 GRCh37 Chromosome 19, 10934544: 10934544
12 DNM2 NM_001005360.2(DNM2): c.1862T> C (p.Leu621Pro) single nucleotide variant Pathogenic rs587783597 GRCh38 Chromosome 19, 10823868: 10823868
13 DNM2 NM_001005360.2(DNM2): c.1880C> G (p.Pro627Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587783598 GRCh37 Chromosome 19, 10934562: 10934562
14 DNM2 NM_001005360.2(DNM2): c.1880C> G (p.Pro627Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587783598 GRCh38 Chromosome 19, 10823886: 10823886
15 DNM2 NM_001005360.2(DNM2): c.2106G> C (p.Ser702=) single nucleotide variant Uncertain significance rs554971107 GRCh37 Chromosome 19, 10939759: 10939759
16 DNM2 NM_001005360.2(DNM2): c.2106G> C (p.Ser702=) single nucleotide variant Uncertain significance rs554971107 GRCh38 Chromosome 19, 10829083: 10829083
17 MTM1 NM_000252.2(MTM1): c.1089dupA (p.Val364Serfs) duplication Pathogenic rs587783752 GRCh37 Chromosome X, 149826329: 149826329
18 MTM1 NM_000252.2(MTM1): c.1089dupA (p.Val364Serfs) duplication Pathogenic rs587783752 GRCh38 Chromosome X, 150657856: 150657856
19 DNM2 NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln) single nucleotide variant Pathogenic rs121909089 GRCh37 Chromosome 19, 10904509: 10904509
20 DNM2 NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln) single nucleotide variant Pathogenic rs121909089 GRCh38 Chromosome 19, 10793833: 10793833
21 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh37 Chromosome 19, 10904508: 10904508
22 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh38 Chromosome 19, 10793832: 10793832
23 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh37 Chromosome 19, 10909219: 10909219
24 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh38 Chromosome 19, 10798543: 10798543
25 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh37 Chromosome 19, 10904505: 10904505
26 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh38 Chromosome 19, 10793829: 10793829
27 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121909095 GRCh37 Chromosome 19, 10934538: 10934538
28 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121909095 GRCh38 Chromosome 19, 10823862: 10823862
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 rs1557414132 GRCh37 Chromosome X, 149818379: 149818379
32 MTM1 NM_000252.2(MTM1): c.1053+5G> A single nucleotide variant Uncertain significance rs1557414132 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:

38
# 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 vacuolar membrane GO:0005774 9.46 MTMR2 SBF2
4 dystrophin-associated glycoprotein complex GO:0016010 9.4 CAV3 DMD
5 Z disc GO:0030018 9.35 BIN1 CAV3 DMD RYR1 TTN
6 T-tubule GO:0030315 9.33 BIN1 CAV3 RYR1
7 I band GO:0031674 8.92 BIN1 MTM1 RYR1 TTN
8 cytoplasm GO:0005737 10.07 BIN1 CAV3 CDKN3 DMD DNM2 MTM1
9 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 16)
# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.78 CDKN3 MTM1 MTMR14 MTMR2
2 endocytosis GO:0006897 9.73 BIN1 CAV3 DNM2
3 muscle organ development GO:0007517 9.71 CAV3 DMD MYF6 SPEG
4 muscle contraction GO:0006936 9.7 CAV3 RYR1 TTN
5 peptidyl-tyrosine dephosphorylation GO:0035335 9.67 CDKN3 MTM1 MTMR14 MTMR2
6 skeletal muscle tissue regeneration GO:0043403 9.55 DMD MYF6
7 protein dephosphorylation GO:0006470 9.55 CDKN3 MTM1 MTMR14 MTMR2 SBF1
8 phosphatidylinositol dephosphorylation GO:0046856 9.54 MTM1 MTMR2
9 negative regulation of potassium ion transmembrane transport GO:1901380 9.51 BIN1 CAV3
10 muscle cell cellular homeostasis GO:0046716 9.5 CAV3 DMD MTM1
11 T-tubule organization GO:0033292 9.49 BIN1 CAV3
12 detection of muscle stretch GO:0035995 9.46 CAV3 TTN
13 regulation of skeletal muscle contraction GO:0014819 9.43 CAV3 DMD
14 muscle cell differentiation GO:0042692 9.43 BIN1 DMD SPEG
15 nucleus localization GO:0051647 9.13 BIN1 CAV3 DMD
16 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 9.76 CAV3 DNM2 RYR1 TTN
2 protein tyrosine phosphatase activity GO:0004725 9.62 CDKN3 MTM1 MTMR14 MTMR2
3 phosphatase activity GO:0016791 9.61 CDKN3 MTM1 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 nitric-oxide synthase binding GO:0050998 9.43 CAV3 DMD DNM2
7 phosphatidylinositol-3-phosphatase activity GO:0004438 9.33 MTM1 MTMR14 MTMR2
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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