MCID: MYS079
MIFTS: 46

Miyoshi Muscular Dystrophy

Categories: 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 76 37 29 6
Distal Muscular Dystrophy 12 55 15
Miyoshi Myopathy 12 44
Distal Myopathies 55
Myopathy, Distal 40

Classifications:



External Ids:

Disease Ontology 12 DOID:0070198 DOID:11720
ICD10 33 G71.0
NCIt 50 C84675
SNOMED-CT 68 58795000
KEGG 37 H00594
SNOMED-CT via HPO 69 129565002
UMLS 73 C0751336

Summaries for Miyoshi Muscular Dystrophy

Disease Ontology : 12 A distal muscular dystrophy characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood.

MalaCards based summary : Miyoshi Muscular Dystrophy, also known as distal myopathy, is related to miyoshi muscular dystrophy 3 and dysferlinopathy. 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. Affiliated tissues include skeletal muscle, t cells and myeloid, and related phenotypes are myopathy and cardiovascular system

Wikipedia : 76 Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the... 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 114)
# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 3 34.3 ANO5 DYSF
2 dysferlinopathy 31.8 CAPN3 DYSF MYOF
3 tibial muscular dystrophy 31.7 CAPN3 TTN
4 myopathy, distal, 1 31.7 MYH2 MYH7
5 myopathy, myofibrillar, 2 31.6 DMD MYH7 MYOT
6 myopathy 30.3 CAPN3 CAV3 DYSF GNE MYH2 MYH7
7 muscular dystrophy, limb-girdle, autosomal recessive 2 30.0 CAPN3 CAV3 DYSF MYOT TTN
8 limb-girdle muscular dystrophy 29.8 ANO5 CAPN3 CAV3 DMD DYSF LAMA2
9 myositis 29.6 CAPN3 DMD DYSF GNE TTN
10 hypertrophic cardiomyopathy 29.5 CAV3 MYH7 TTN
11 muscular dystrophy 29.2 ANO5 CAPN3 CAV3 DMD DYSF GNE
12 miyoshi muscular dystrophy 1 12.7
13 miyoshi muscular dystrophy 2 12.6
14 distal myopathy with vocal cord weakness 12.5
15 welander distal myopathy, swedish type 12.5
16 cav3-related distal myopathy 12.4
17 late-onset distal myopathy, markesbery-griggs type 12.2
18 amyotrophic lateral sclerosis 21 12.1
19 adult-onset distal myopathy due to vcp mutation 12.0
20 klhl9-related early-onset distal myopathy 12.0
21 inclusion body myositis 12.0
22 tibial muscular dystrophy, tardive 11.8
23 myopathy, distal, with anterior tibial onset 11.7
24 myopathy, distal, 4 11.7
25 myopathy, distal, 5 11.7
26 oculopharyngodistal myopathy 11.5
27 nonaka myopathy 11.4
28 rippling muscle disease 2 11.3
29 myopathy, distal, with rimmed vacuoles 11.3
30 myopathy, distal, 3 11.2
31 welander distal myopathy 11.2
32 myopathy, distal, infantile-onset 11.1
33 myopathy, distal, with early respiratory failure, autosomal dominant 11.0
34 myopathy, myofibrillar, 4 11.0
35 myopathy, distal, tateyama type 11.0
36 myopathy, scapulohumeroperoneal 11.0
37 gne-related myopathy 11.0
38 distal nebulin myopathy 11.0
39 neuronopathy, distal hereditary motor, type viia 11.0
40 peripheral neuropathy, myopathy, hoarseness, and hearing loss 11.0
41 muscle disorders 10.3
42 localized lipodystrophy 10.2 DMD DYSF
43 autosomal recessive limb-girdle muscular dystrophy type 2l 10.2 ANO5 DYSF
44 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 CAPN3 DYSF
45 autosomal recessive limb-girdle muscular dystrophy type 2d 10.2 CAPN3 DYSF
46 autosomal dominant limb-girdle muscular dystrophy type 1c 10.2 CAV3 DYSF
47 polyglucosan body myopathy 1 with or without immunodeficiency 10.2 CAPN3 DMD
48 autosomal dominant limb-girdle muscular dystrophy 10.2 CAV3 MYOT
49 autosomal dominant limb-girdle muscular dystrophy type 1f 10.1 CAV3 MYOT
50 cardioneuromyopathy with hyaline masses and nemaline rods 10.1 DMD TTN

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:

32
# Description HPO Frequency HPO Source Accession
1 myopathy 32 frequent (33%) HP:0003198

MGI Mouse Phenotypes related to Miyoshi Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 CAPN3 CAV3 DMD GNE MYH7 MYOF
2 muscle MP:0005369 9.32 ANO5 CAPN3 CAV3 DMD DYSF GNE

Drugs & Therapeutics for Miyoshi Muscular Dystrophy

Search Clinical Trials , 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:

41
Skeletal Muscle, T Cells, Myeloid

Publications for Miyoshi Muscular Dystrophy

Articles related to Miyoshi Muscular Dystrophy:

(show top 50) (show all 232)
# Title Authors Year
1
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. ( 29437287 )
2018
2
Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients. ( 30112071 )
2018
3
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. ( 30166250 )
2018
4
A heterologous cell model for studying the role of T-cell intracellular antigen 1 in Welander distal myopathy. ( 30348840 )
2018
5
Late onset distal myopathy: A new telethoninopathy. ( 30553702 )
2018
6
Distal myopathy due to BICD2 mutations. ( 29306765 )
2018
7
The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization. ( 29628183 )
2018
8
A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo. ( 29660325 )
2018
9
A new familial distal myopathy in Japan with predominant upper extremities. ( 29801888 )
2018
10
Distal myopathy with ADSSL1 mutations in Korean patients. ( 28268051 )
2017
11
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. ( 28295036 )
2017
12
Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient. ( 28221306 )
2017
13
Cystinosis distal myopathy, novel clinical, pathological and genetic features. ( 28629674 )
2017
14
Concentric muscle involvement in POLG-related distal myopathy. ( 28336318 )
2017
15
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. ( 28501893 )
2017
16
Autosomal dominant distal myopathy due to a novel ACTA1 mutation. ( 28606400 )
2017
17
RYR1 causing distal myopathy. ( 29178655 )
2017
18
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. ( 26718575 )
2016
19
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene. ( 27469267 )
2016
20
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report. ( 27005958 )
2016
21
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. ( 27519903 )
2016
22
Neurofibromatosis Type 2 Presenting with Oculomotor Ophthalmoplegia and Distal Myopathy. ( 27738538 )
2016
23
Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy. ( 27830184 )
2016
24
Atypical Miyoshi distal myopathy: A case report. ( 27882118 )
2016
25
Late-onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin-containing protein. ( 26853221 )
2016
26
Mutation in the caveolin-3 gene causes asymmetrical distal myopathy. ( 26947586 )
2016
27
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. ( 26976520 )
2016
28
Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants. ( 27282841 )
2016
29
Impairment of respiratory function in late-onset distal myopathy due to MATR3 Mutation. ( 25677933 )
2015
30
Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations. ( 25695922 )
2015
31
ADSSL1 mutation relevant to autosomal recessive adolescent-onset distal myopathy. ( 26506222 )
2015
32
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. ( 26208961 )
2015
33
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report. ( 26616227 )
2015
34
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene. ( 25246303 )
2015
35
Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy. ( 26528920 )
2015
36
A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family. ( 25447691 )
2015
37
Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation. ( 25185957 )
2015
38
Distal myasthenia gravis presenting as isolated distal myopathy. ( 25759217 )
2015
39
Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles. ( 26053703 )
2015
40
Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy. ( 26094647 )
2015
41
Laing distal myopathy pathologically resembling inclusion body myositis. ( 25574480 )
2014
42
Novel mutations widen the phenotypic spectrum of slow skeletal/I^-cardiac myosin (MYH7) distal myopathy. ( 24664454 )
2014
43
Phenotype of matrin-3-related distal myopathy in 16 German patients. ( 25154462 )
2014
44
Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles. ( 24601867 )
2014
45
A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation. ( 24707269 )
2014
46
Laing early-onset distal myopathy in a Belgian family. ( 24710723 )
2014
47
A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia. ( 24737350 )
2014
48
Anaesthetic management of a case of distal myopathy. ( 24963203 )
2014
49
Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles). ( 23127962 )
2013
50
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). ( 24027297 )
2013

Variations for Miyoshi Muscular Dystrophy

ClinVar genetic disease variations for Miyoshi Muscular Dystrophy:

6 (show top 50) (show all 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 MATR3 NM_199189.2(MATR3): c.-43T> A single nucleotide variant Benign rs12153162 GRCh37 Chromosome 5, 138643062: 138643062
2 MATR3 NM_199189.2(MATR3): c.-43T> A single nucleotide variant Benign rs12153162 GRCh38 Chromosome 5, 139307373: 139307373
3 MATR3 NM_199189.2(MATR3): c.1602+6A> G single nucleotide variant Benign/Likely benign rs80036770 GRCh38 Chromosome 5, 139319507: 139319507
4 MATR3 NM_199189.2(MATR3): c.1602+6A> G single nucleotide variant Benign/Likely benign rs80036770 GRCh37 Chromosome 5, 138655196: 138655196
5 MATR3 NM_199189.2(MATR3): c.1954C> T (p.Leu652Phe) single nucleotide variant Uncertain significance rs886059991 GRCh37 Chromosome 5, 138658462: 138658462
6 MATR3 NM_199189.2(MATR3): c.-247C> T single nucleotide variant Benign rs141402332 GRCh37 Chromosome 5, 138614749: 138614749
7 MATR3 NM_199189.2(MATR3): c.-247C> T single nucleotide variant Benign rs141402332 GRCh38 Chromosome 5, 139279060: 139279060
8 MATR3 NM_199189.2(MATR3): c.-124T> C single nucleotide variant Uncertain significance rs886059987 GRCh37 Chromosome 5, 138642981: 138642981
9 MATR3 NM_199189.2(MATR3): c.-124T> C single nucleotide variant Uncertain significance rs886059987 GRCh38 Chromosome 5, 139307292: 139307292
10 MATR3 NM_199189.2(MATR3): c.393C> A (p.Asp131Glu) single nucleotide variant Uncertain significance rs761842979 GRCh37 Chromosome 5, 138643497: 138643497
11 MATR3 NM_199189.2(MATR3): c.393C> A (p.Asp131Glu) single nucleotide variant Uncertain significance rs761842979 GRCh38 Chromosome 5, 139307808: 139307808
12 MATR3 NM_199189.2(MATR3): c.1954C> T (p.Leu652Phe) single nucleotide variant Uncertain significance rs886059991 GRCh38 Chromosome 5, 139322773: 139322773
13 MATR3 NM_199189.2(MATR3): c.2283C> T (p.Asn761=) single nucleotide variant Benign/Likely benign rs189752689 GRCh37 Chromosome 5, 138661263: 138661263
14 MATR3 NM_199189.2(MATR3): c.2283C> T (p.Asn761=) single nucleotide variant Benign/Likely benign rs189752689 GRCh38 Chromosome 5, 139325574: 139325574
15 MATR3 NM_199189.2(MATR3): c.2360A> G (p.Asn787Ser) single nucleotide variant Likely benign rs148402819 GRCh37 Chromosome 5, 138661340: 138661340
16 MATR3 NM_199189.2(MATR3): c.2360A> G (p.Asn787Ser) single nucleotide variant Likely benign rs148402819 GRCh38 Chromosome 5, 139325651: 139325651
17 MATR3 NM_199189.2(MATR3): c.2504A> G (p.Asn835Ser) single nucleotide variant Uncertain significance rs201165929 GRCh37 Chromosome 5, 138665044: 138665044
18 MATR3 NM_199189.2(MATR3): c.2504A> G (p.Asn835Ser) single nucleotide variant Uncertain significance rs201165929 GRCh38 Chromosome 5, 139329355: 139329355
19 MATR3 NM_199189.2(MATR3): c.2543A> G (p.Ter848=) single nucleotide variant Likely benign rs200664940 GRCh37 Chromosome 5, 138665083: 138665083
20 MATR3 NM_199189.2(MATR3): c.2543A> G (p.Ter848=) single nucleotide variant Likely benign rs200664940 GRCh38 Chromosome 5, 139329394: 139329394
21 MATR3 NM_199189.2(MATR3): c.*86_*89delTTAG deletion Likely benign rs368308621 GRCh37 Chromosome 5, 138665170: 138665173
22 MATR3 NM_199189.2(MATR3): c.*86_*89delTTAG deletion Likely benign rs368308621 GRCh38 Chromosome 5, 139329481: 139329484
23 MATR3 NM_199189.2(MATR3): c.*177_*178delAT deletion Uncertain significance rs886059994 GRCh38 Chromosome 5, 139329572: 139329573
24 MATR3 NM_199189.2(MATR3): c.*177_*178delAT deletion Uncertain significance rs886059994 GRCh37 Chromosome 5, 138665261: 138665262
25 MATR3 NM_199189.2(MATR3): c.*406A> G single nucleotide variant Likely benign rs185734839 GRCh38 Chromosome 5, 139329801: 139329801
26 MATR3 NM_199189.2(MATR3): c.*406A> G single nucleotide variant Likely benign rs185734839 GRCh37 Chromosome 5, 138665490: 138665490
27 MATR3 NM_199189.2(MATR3): c.*496C> T single nucleotide variant Likely benign rs140707719 GRCh38 Chromosome 5, 139329891: 139329891
28 MATR3 NM_199189.2(MATR3): c.*496C> T single nucleotide variant Likely benign rs140707719 GRCh37 Chromosome 5, 138665580: 138665580
29 MATR3 NM_199189.2(MATR3): c.*587A> G single nucleotide variant Likely benign rs535027907 GRCh38 Chromosome 5, 139329982: 139329982
30 MATR3 NM_199189.2(MATR3): c.*587A> G single nucleotide variant Likely benign rs535027907 GRCh37 Chromosome 5, 138665671: 138665671
31 MATR3 NM_199189.2(MATR3): c.*769G> A single nucleotide variant Likely benign rs561705958 GRCh38 Chromosome 5, 139330164: 139330164
32 MATR3 NM_199189.2(MATR3): c.*769G> A single nucleotide variant Likely benign rs561705958 GRCh37 Chromosome 5, 138665853: 138665853
33 MATR3 NM_199189.2(MATR3): c.*1111T> C single nucleotide variant Uncertain significance rs772678059 GRCh37 Chromosome 5, 138666195: 138666195
34 MATR3 NM_199189.2(MATR3): c.*1111T> C single nucleotide variant Uncertain significance rs772678059 GRCh38 Chromosome 5, 139330506: 139330506
35 MATR3 NM_199189.2(MATR3): c.*1821T> G single nucleotide variant Uncertain significance rs886060000 GRCh37 Chromosome 5, 138666905: 138666905
36 MATR3 NM_199189.2(MATR3): c.*1821T> G single nucleotide variant Uncertain significance rs886060000 GRCh38 Chromosome 5, 139331216: 139331216
37 MATR3 NM_199189.2(MATR3): c.*1891T> G single nucleotide variant Uncertain significance rs886060001 GRCh37 Chromosome 5, 138666975: 138666975
38 MATR3 NM_199189.2(MATR3): c.*1891T> G single nucleotide variant Uncertain significance rs886060001 GRCh38 Chromosome 5, 139331286: 139331286
39 MATR3 NM_199189.2(MATR3): c.*2222G> T single nucleotide variant Uncertain significance rs886060005 GRCh37 Chromosome 5, 138667306: 138667306
40 MATR3 NM_199189.2(MATR3): c.*2222G> T single nucleotide variant Uncertain significance rs886060005 GRCh38 Chromosome 5, 139331617: 139331617
41 MATR3 NM_199189.2(MATR3): c.-610C> G single nucleotide variant Benign rs11242456 GRCh38 Chromosome 5, 139273920: 139273920
42 MATR3 NM_199189.2(MATR3): c.-610C> G single nucleotide variant Benign rs11242456 GRCh37 Chromosome 5, 138609609: 138609609
43 MATR3 NM_199189.2(MATR3): c.-103dupT duplication Benign rs59150359 GRCh37 Chromosome 5, 138643002: 138643002
44 MATR3 NM_199189.2(MATR3): c.-103dupT duplication Benign rs59150359 GRCh38 Chromosome 5, 139307313: 139307313
45 MATR3 NM_199189.2(MATR3): c.-56G> A single nucleotide variant Likely benign rs59033177 GRCh37 Chromosome 5, 138643049: 138643049
46 MATR3 NM_199189.2(MATR3): c.-56G> A single nucleotide variant Likely benign rs59033177 GRCh38 Chromosome 5, 139307360: 139307360
47 MATR3 NM_199189.2(MATR3): c.*1087G> C single nucleotide variant Likely benign rs116660718 GRCh38 Chromosome 5, 139330482: 139330482
48 MATR3 NM_199189.2(MATR3): c.291A> G (p.Leu97=) single nucleotide variant Benign/Likely benign rs147239107 GRCh37 Chromosome 5, 138643395: 138643395
49 MATR3 NM_199189.2(MATR3): c.291A> G (p.Leu97=) single nucleotide variant Benign/Likely benign rs147239107 GRCh38 Chromosome 5, 139307706: 139307706
50 MATR3 NM_199189.2(MATR3): c.1347C> T (p.Ala449=) single nucleotide variant Benign/Likely benign rs141986556 GRCh37 Chromosome 5, 138654635: 138654635

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:

37
# 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 sarcomere GO:0030017 9.5 MYH2 MYH7 TTN
2 myofibril GO:0030016 9.46 CAPN3 DMD MYH2 MYH7
3 dystrophin-associated glycoprotein complex GO:0016010 9.43 CAV3 DMD
4 T-tubule GO:0030315 9.43 CAPN3 CAV3 DYSF
5 myosin filament GO:0032982 9.4 MYH2 MYH7
6 muscle myosin complex GO:0005859 9.37 MYH2 MYH7
7 sarcolemma GO:0042383 9.35 CAV3 DMD DYSF LAMA2 MYOT
8 Z disc GO:0030018 9.1 CAPN3 CAV3 DMD MYH7 MYOT TTN

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.71 CAPN3 CAV3 DMD LAMA2
2 cardiac muscle contraction GO:0060048 9.63 DMD MYH7 TTN
3 regulation of heart rate GO:0002027 9.61 CAV3 DMD MYH7
4 sarcomere organization GO:0045214 9.58 CAPN3 TTN
5 skeletal muscle tissue regeneration GO:0043403 9.57 DMD DYSF
6 myoblast fusion GO:0007520 9.56 CAV3 MYOF
7 striated muscle contraction GO:0006941 9.55 MYH7 TTN
8 glycerol metabolic process GO:0006071 9.54 DYSF MYOF
9 muscle cell cellular homeostasis GO:0046716 9.54 CAPN3 CAV3 DMD
10 regulation of calcium ion import GO:0090279 9.52 CAV3 DYSF
11 nucleus localization GO:0051647 9.51 CAV3 DMD
12 muscle fiber development GO:0048747 9.5 DMD DYSF MYOF
13 detection of muscle stretch GO:0035995 9.49 CAV3 TTN
14 regulation of skeletal muscle contraction GO:0014819 9.48 CAV3 DMD
15 plasma membrane repair GO:0001778 9.43 CAV3 DYSF MYOF
16 T-tubule organization GO:0033292 9.33 CAV3 DYSF MYOF
17 muscle filament sliding GO:0030049 9.26 DMD MYH2 MYH7 TTN
18 muscle contraction GO:0006936 9.17 CAV3 DYSF MYH2 MYH7 MYOF MYOT

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.54 MYH2 MYH7 TTN
2 calmodulin binding GO:0005516 9.5 MYH2 MYH7 TTN
3 alpha-tubulin binding GO:0043014 9.4 CAV3 DYSF
4 microfilament motor activity GO:0000146 9.26 MYH2 MYH7
5 actin binding GO:0003779 9.26 DMD MYH2 MYH7 MYOT
6 nitric-oxide synthase binding GO:0050998 9.16 CAV3 DMD
7 structural constituent of muscle GO:0008307 8.92 CAPN3 DMD MYOT TTN

Sources for Miyoshi Muscular Dystrophy

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
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