MCID: MYS079
MIFTS: 50

Miyoshi Muscular Dystrophy

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

Aliases & Classifications for Miyoshi Muscular Dystrophy

MalaCards integrated aliases for Miyoshi Muscular Dystrophy:

Name: Miyoshi Muscular Dystrophy 12 12 15
Distal Myopathy 12 74 58 36 29 6 15
Distal Muscular Dystrophy 12 74 58 54
Miyoshi Myopathy 12 43
Dystrophy, Muscular, Miyoshi 39
Distal Myopathies 54
Myopathy, Distal 39

Characteristics:

Orphanet epidemiological data:

58
distal myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070198 DOID:11720
KEGG 36 H00594
NCIt 49 C84675
SNOMED-CT 67 58795000
ICD10 32 G71.09
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C0751336
Orphanet 58 ORPHA599
SNOMED-CT via HPO 68 129565002
UMLS 71 C0751336

Summaries for Miyoshi Muscular Dystrophy

KEGG : 36 Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical presentation is characterized by progressive muscular weakness and atrophy beginning in the hands, forearm, lower legs or feet. Currently almost 20 different entities of distal muscular dystrophies have been genetically determined. Half of the genes have been associated with distal phenotypes only, whereas the other genes can manifest also with other than distal phenotypes. Most of the genes code for structural and functional components of the sarcomere. The genes responsible for the pathologically defined category of myofibrillar myopathy are frequently display a distal phenotype.

MalaCards based summary : Miyoshi Muscular Dystrophy, also known as distal myopathy, is related to miyoshi muscular dystrophy 3 and autosomal dominant distal myopathy. An important gene associated with Miyoshi Muscular Dystrophy is DYSF (Dysferlin), and among its related pathways/superpathways are Amino sugar and nucleotide sugar metabolism and Cardiac muscle contraction. The drugs Glucosamine and Azacitidine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and heart, and related phenotypes are myopathy and cardiovascular system

Disease Ontology : 12 A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.

Wikipedia : 74 Distal muscular dystrophy is a group of disorders characterized by onset in the hands or feet. Many... more...

Related Diseases for Miyoshi Muscular Dystrophy

Diseases in the Miyoshi Muscular Dystrophy family:

Miyoshi Muscular Dystrophy 1 Miyoshi Muscular Dystrophy 2
Miyoshi Muscular Dystrophy 3

Diseases related to Miyoshi Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 209)
# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 3 35.2 MMD2 DYSF CAPN3 ANO5
2 autosomal dominant distal myopathy 34.2 MYOT MYH7 DMD DES
3 tibial muscular dystrophy 33.6 TTN MYOT GNE DYSF DMD CAPN3
4 myopathy, distal, 3 33.5 MPD3 ANO5
5 dysferlinopathy 33.3 OTOF MYOF DYSF CAPN3
6 myopathy, myofibrillar, 9, with early respiratory failure 32.9 TTN MYOT GNE CAPN3
7 rippling muscle disease 2 32.8 DYSF CAV3
8 myopathy, myofibrillar, 2 32.4 MYOT DMD
9 muscular dystrophy-dystroglycanopathy , type c, 5 31.0 TTN DYSF CAPN3 ANO5
10 autosomal recessive limb-girdle muscular dystrophy type 2l 30.9 MYOT DYSF CAV3 CAPN3 ANO5
11 hyaline body myopathy 30.8 TTN MYOT MYH7
12 myopathy, myofibrillar, 1 30.7 TTN MYOT DMD DES CAPN3
13 myositis 30.7 TTN PIK3C2A GNE DYSF DMD CAPN3
14 limb-girdle muscular dystrophy 30.7 TTN MYOT DYSF DMD CAV3 CAPN3
15 muscular dystrophy, limb-girdle, autosomal recessive 2 30.7 TTN MYOT DYSF DMD CAV3 CAPN3
16 muscular dystrophy, becker type 30.7 PIK3C2A MYOT DYSF DMD CAV3 CAPN3
17 reducing body myopathy 30.6 TTN DMD DES
18 dilated cardiomyopathy 30.6 TTN MYOT MYH7 GAA DMD DES
19 atrial standstill 1 30.6 TTN MYOT MYH7 GAA DMD DES
20 reducing body myopathy 1a 30.6 TTN MYOT
21 cytoplasmic body myopathy 30.5 DMD DES
22 myofibrillar myopathy 30.4 TTN MYOT MYH7 GNE DYSF DMD
23 muscular dystrophy, limb-girdle, autosomal dominant 1 30.4 MYOT DYSF CAV3
24 atrioventricular block 30.4 TTN PIK3C2A MYH7 DES
25 autosomal recessive limb-girdle muscular dystrophy 30.4 TTN MYOT GNE DYSF DMD DES
26 myopathy, myofibrillar, 3 30.3 TTN MYOT DYSF DMD CAV3 CAPN3
27 central core disease of muscle 30.3 MYOT GAA DES
28 scapuloperoneal myopathy 30.3 MYOT MYH7
29 respiratory failure 30.3 TTN PIK3C2A MYH7 GAA DMD
30 hypertrophic cardiomyopathy 30.3 TTN PIK3C2A MYH7 GAA DMD DES
31 autosomal recessive limb-girdle muscular dystrophy type 2j 30.2 TTN MYOT DYSF CAV3 CAPN3
32 restrictive cardiomyopathy 30.2 TTN MYH7 DMD DES
33 centronuclear myopathy 30.2 TTN DYSF DMD DES CAV3
34 malignant hyperthermia 30.1 PIK3C2A MYH7 DYSF DMD CAV3
35 myopathy, congenital 30.1 TTN MYH7 GAA DYSF DMD
36 arrhythmogenic right ventricular cardiomyopathy 30.1 TTN MYH7 DMD DES
37 neuromuscular disease 30.1 TTN MYOT MYH7 GNE GAA DYSF
38 creatine phosphokinase, elevated serum 30.0 PIK3C2A GAA DMD CAV3 CAPN3 ANO5
39 facioscapulohumeral muscular dystrophy 1 30.0 MYOT MIR331 GAA DYSF DMD CAPN3
40 muscular dystrophy, duchenne type 30.0 TTN PIK3C2A MIR331 DMD DES CAV3
41 rigid spine muscular dystrophy 1 29.9 TTN MYOT MYH7 GAA DYSF DMD
42 muscular dystrophy, congenital, lmna-related 29.8 TTN MYOT MYH7 DYSF DMD CAV3
43 muscular dystrophy 29.5 TTN TRIM72 PIK3C2A OTOF MYOT MYOF
44 myopathy 29.5 TTN PIK3C2A OTOF MYOT MYOF MYH7
45 miyoshi muscular dystrophy 1 12.9
46 miyoshi muscular dystrophy 2 12.8
47 welander distal myopathy 12.8
48 distal myopathy with vocal cord weakness 12.7
49 distal muscular dystrophy tateyama type 12.5
50 myopathy, distal, 6, adult-onset, autosomal dominant 12.5

Graphical network of the top 20 diseases related to Miyoshi Muscular Dystrophy:



Diseases related to Miyoshi Muscular Dystrophy

Symptoms & Phenotypes for Miyoshi Muscular Dystrophy

Human phenotypes related to Miyoshi Muscular Dystrophy:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198

MGI Mouse Phenotypes related to Miyoshi Muscular Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 CAPN3 CAV3 DES DMD GAA GNE
2 muscle MP:0005369 9.4 ANO5 CAPN3 CAV3 DES DMD DYSF

Drugs & Therapeutics for Miyoshi Muscular Dystrophy

Drugs for Miyoshi Muscular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucosamine Approved, Investigational Phase 3 3416-24-8 439213
2
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
3 Antibodies Phase 1
4 Immunoglobulins, Intravenous Phase 1
5 Rho(D) Immune Globulin Phase 1
6 gamma-Globulins Phase 1
7 Immunologic Factors Phase 1
8 Immunoglobulins Phase 1

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended-Release Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 aceneuramic acid extended-release (Ace-ER);Placebo
2 Phase 3B Open-Label Extension Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Terminated NCT02736188 Phase 3 Aceneuramic Acid Extended-Release Tablets
3 A Phase 2 Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01517880 Phase 2 Sialic Acid Extended Release (SA-ER);Placebo
4 An Open-label Phase 2 Extension Study to Evaluate the Long Term Safety and Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01830972 Phase 2 SA-ER 500 mg;SA-IR 500 mg
5 An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc;ManNAc
6 A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects With GNE Myopathy Not yet recruiting NCT04231266 Phase 2 ManNAc
7 A Phase 2 Open-label Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) Patients With Severe Ambulatory Impairment Terminated NCT02731690 Phase 2 Aceneuramic Acid Extended-Release
8 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation to Manage or Treat Muscular Dystrophies. Unknown status NCT00674843 Phase 1
9 Pharmacokinetic Study on N-acetylneuraminic Acid in Patients With Distal Myopathy With Rimmed Vacuoles (DMRV) - Hereditary Inclusion Body Myopathy (hIBM) Completed NCT01236898 Phase 1 NPC-09
10 A Phase 1 Study to Evaluate the Safety and Pharmacokinetics of Single and Repeat Doses of Sialic Acid Extended Release (SA-ER) Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01359319 Phase 1 Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tables;Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tablets
11 A Phase 1 Randomized, Placebo-Controlled, Double-Blind, Escalating Single-Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01634750 Phase 1 ManNAc
12 Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1 Immune Globulin
13 International Clinical Outcome Study for Dysferlinopathy Unknown status NCT01676077
14 GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01784679
15 Family Studies in Neuromuscular Disorders Recruiting NCT01459302
16 International GNE Myopathy Patient Registry (GNE001) Recruiting NCT04009226
17 A Natural History Study of Patients With GNE Myopathy Recruiting NCT01417533

Search NIH Clinical Center for Miyoshi Muscular Dystrophy

Cochrane evidence based reviews: miyoshi myopathy

Genetic Tests for Miyoshi Muscular Dystrophy

Genetic tests related to Miyoshi Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Distal Myopathy 29

Anatomical Context for Miyoshi Muscular Dystrophy

MalaCards organs/tissues related to Miyoshi Muscular Dystrophy:

40
Skeletal Muscle, Bone, Heart, T Cells, Brain, Skin, Testes

Publications for Miyoshi Muscular Dystrophy

Articles related to Miyoshi Muscular Dystrophy:

(show top 50) (show all 583)
# Title Authors PMID Year
1
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family. 54 61
20346669 2010
2
Caveolinopathies: from the biology of caveolin-3 to human diseases. 54 61
19584897 2010
3
[Development of therapy for distal myopathy with rimmed vacuoles]. 61 54
20030229 2009
4
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. 61 54
19716701 2009
5
Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy. 61 54
19618441 2009
6
Novel DYSF mutations in Thai patients with distal myopathy. 54 61
19493611 2009
7
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. 61 54
19458539 2009
8
Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 54 61
18930476 2009
9
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 54 61
18948003 2008
10
[Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy]. 54 61
19048948 2008
11
Dysferlinopathy: a clinical and histopathological study of 28 patients from India. 61 54
18974568 2008
12
[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]. 61 54
18555875 2008
13
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles). 61 54
19845164 2008
14
Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy? 54 61
18646567 2007
15
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. 54 61
17704511 2007
16
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation. 61 54
17383184 2007
17
Zaspopathy in a large classic late-onset distal myopathy family. 54 61
17337483 2007
18
Hereditary myosin myopathies. 54 61
17434305 2007
19
Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family. 61 54
17098358 2007
20
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. 61 54
17164266 2007
21
Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand. 61 54
16810679 2006
22
Desmin mutations in a St. Petersburg cohort of cardiomyopathies. 61 54
17626518 2006
23
Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. 54 61
16891820 2006
24
Myotilinopathy in a family with late onset myopathy. 54 61
16793270 2006
25
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. 54 61
16730439 2006
26
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). 61 54
16674563 2006
27
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. 54 61
16103042 2006
28
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. 54 61
16372135 2006
29
Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes. 61 54
16116644 2005
30
[Molecular pathomechanism of distal myopathy with rimmed vacuoles]. 54 61
16447769 2005
31
Molecular pathomechanism of distal myopathy with rimmed vacuoles. 61 54
16550921 2005
32
Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy. 61 54
15834044 2005
33
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. 54 61
15728284 2005
34
Two novel CAV3 gene mutations in Japanese families. 61 54
15564037 2004
35
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 61 54
15322983 2004
36
Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy. 54 61
15477515 2004
37
Phenotypic variability associated with Arg26Gln mutation in caveolin3. 61 54
15318349 2004
38
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. 61 54
15136692 2004
39
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. 54 61
14707127 2004
40
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. 54 61
14981167 2004
41
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins. 61 54
14733963 2004
42
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. 54 61
14678807 2003
43
A CAV3 microdeletion differentially affects skeletal muscle and myocardium. 61 54
14663034 2003
44
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. 61 54
12839838 2003
45
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 54 61
12939441 2003
46
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. 61 54
12913203 2003
47
Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency. 61 54
12734659 2003
48
Consequences of a novel caveolin-3 mutation in a large German family. 61 54
12557291 2003
49
Muscle pathology in dysferlin deficiency. 61 54
12445162 2002
50
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. 61 54
12177386 2002

Variations for Miyoshi Muscular Dystrophy

ClinVar genetic disease variations for Miyoshi Muscular Dystrophy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HSPB8 NM_014365.2(HSPB8):c.520_533del (p.Tyr174fs)deletion Likely pathogenic 584450 rs1565930588 12:119631592-119631605 12:119193787-119193800
2 MATR3 NM_018834.6(MATR3):c.*175_*176AT[1]short repeat Uncertain significance 351148 rs767576295 5:138665259-138665260 5:139329570-139329571
3 MATR3 NM_018834.6(MATR3):c.2493+7_2493+9deldeletion Uncertain significance 351139 rs886059992 5:138661979-138661981 5:139326290-139326292
4 MATR3 NM_199189.2(MATR3):c.-784G>ASNV Likely benign 369449 rs773123084 5:138609435-138609435 5:139273746-139273746
5 MATR3 NM_018834.6(MATR3):c.*1810_*1812deldeletion Likely benign 351177 rs144802057 5:138666892-138666894 5:139331203-139331205
6 MATR3 NM_018834.6(MATR3):c.*86_*89deldeletion Likely benign 351146 rs368308621 5:138665167-138665170 5:139329478-139329481
7 MATR3 NM_018834.6(MATR3):c.-103dupduplication Benign 351117 rs59150359 5:138642997-138642998 5:139307308-139307309

Expression for Miyoshi Muscular Dystrophy

Search GEO for disease gene expression data for Miyoshi Muscular Dystrophy.

Pathways for Miyoshi Muscular Dystrophy

Pathways related to Miyoshi Muscular Dystrophy according to KEGG:

36
# Name Kegg Source Accession
1 Amino sugar and nucleotide sugar metabolism hsa00520
2 Cardiac muscle contraction hsa04260
3 Tight junction hsa04530
4 Protein processing in endoplasmic reticulum hsa04141

GO Terms for Miyoshi Muscular Dystrophy

Cellular components related to Miyoshi Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.13 TRIM72 PIK3C2A OTOF MYOT MYOF GAA
2 cytoplasmic vesicle GO:0031410 9.85 TRIM72 PIK3C2A OTOF MYOF FER1L5 DYSF
3 T-tubule GO:0030315 9.46 FER1L5 DYSF CAV3 CAPN3
4 myofibril GO:0030016 9.43 MYH7 DMD CAPN3
5 sarcolemma GO:0042383 9.43 TRIM72 MYOT DYSF DMD DES CAV3
6 dystrophin-associated glycoprotein complex GO:0016010 9.4 DMD CAV3
7 Z disc GO:0030018 9.17 TTN MYOT MYH7 DMD DES CAV3

Biological processes related to Miyoshi Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.81 TRIM72 DMD CAV3 CAPN3
2 cardiac muscle contraction GO:0060048 9.73 TTN MYH7 GAA DMD
3 regulation of heart rate GO:0002027 9.71 MYH7 DMD CAV3
4 membrane fusion GO:0061025 9.71 OTOF MYOF FER1L5 DYSF
5 myoblast fusion GO:0007520 9.67 MYOF FER1L5 CAV3
6 muscle filament sliding GO:0030049 9.67 TTN MYH7 DMD DES
7 striated muscle contraction GO:0006941 9.65 TTN MYH7 GAA
8 muscle fiber development GO:0048747 9.63 MYOF DYSF DMD
9 muscle cell cellular homeostasis GO:0046716 9.62 GAA DMD CAV3 CAPN3
10 regulation of the force of heart contraction GO:0002026 9.61 MYH7 GAA
11 negative regulation of phagocytosis GO:0050765 9.6 FER1L5 DYSF
12 glycerol metabolic process GO:0006071 9.59 MYOF DYSF
13 macrophage activation involved in immune response GO:0002281 9.58 FER1L5 DYSF
14 regulation of calcium ion import GO:0090279 9.58 DYSF CAV3
15 nucleus localization GO:0051647 9.57 DMD CAV3
16 detection of muscle stretch GO:0035995 9.56 TTN CAV3
17 T-tubule organization GO:0033292 9.56 MYOF FER1L5 DYSF CAV3
18 regulation of skeletal muscle contraction GO:0014819 9.55 DMD CAV3
19 plasma membrane repair GO:0001778 9.55 TRIM72 MYOF FER1L5 DYSF CAV3
20 monocyte activation involved in immune response GO:0002280 9.52 FER1L5 DYSF
21 plasma membrane organization GO:0007009 9.43 OTOF MYOF FER1L6 FER1L5 DYSF CAV3
22 muscle contraction GO:0006936 9.23 TTN TRIM72 MYOT MYOF MYH7 DYSF

Molecular functions related to Miyoshi Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nitric-oxide synthase binding GO:0050998 8.96 DMD CAV3
2 structural constituent of muscle GO:0008307 8.92 TTN MYOT DMD CAPN3

Sources for Miyoshi Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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