SBM
MCID: MYP094
MIFTS: 44

Myopathy, Spheroid Body (SBM)

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

Aliases & Classifications for Myopathy, Spheroid Body

MalaCards integrated aliases for Myopathy, Spheroid Body:

Name: Myopathy, Spheroid Body 57 13 39
Spheroid Body Myopathy 12 20 58 72 36 29 54 6 15 70
Autosomal Dominant Spheroid Body Myopathy 20
Sbm 72

Characteristics:

Orphanet epidemiological data:

58
spheroid body myopathy
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive disorder
highly variable severity
onset usually in third or fourth decade
onset in adolescence or young adulthood has been reported


HPO:

31
myopathy, spheroid body:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080091
OMIM® 57 182920
OMIM Phenotypic Series 57 PS601419
KEGG 36 H01291
ICD10 via Orphanet 33 G71.8
UMLS via Orphanet 71 C1866785
Orphanet 58 ORPHA268129
MedGen 41 C1866785
UMLS 70 C1866785

Summaries for Myopathy, Spheroid Body

OMIM® : 57 Spheroid body myopathy is a form of myofibrillar myopathy (MFM). Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (182920) (Updated 20-May-2021)

MalaCards based summary : Myopathy, Spheroid Body, also known as spheroid body myopathy, is related to neuromuscular disease and myopathy, myofibrillar, 3, and has symptoms including waddling gait An important gene associated with Myopathy, Spheroid Body is MYOT (Myotilin), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include kidney, spinal cord and liver, and related phenotypes are tremor and dysphagia

Disease Ontology : 12 A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has material basis in heterozygous mutation in the myotilin gene on chromosome 5q31.

KEGG : 36 Spheroid body myopathy (SBM) is a rare autosomal dominant neuromuscular disorder characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. The unique feature noted pathologically was the spheroid bodies found within the type I muscle fibers. SBM is caused by mutations in TTID/ MYOT. Myotilin induces actin filament bundling and stabilizes the assembled bundles.

UniProtKB/Swiss-Prot : 72 Spheroid body myopathy: Autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.

Related Diseases for Myopathy, Spheroid Body

Diseases related to Myopathy, Spheroid Body via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 neuromuscular disease 29.6 TCAP NEB MYOT LDB3 DES
2 myopathy, myofibrillar, 3 29.0 TCAP MYPN MYOZ1 MYOT LDB3 FLNC
3 muscular dystrophy 28.9 TCAP NEB MYOT LDB3 FLNC DES
4 myofibrillar myopathy 28.5 TCAP NEB MYPN MYOZ1 MYOT LDB3
5 myopathy 28.1 TCAP NEB MYPN MYOZ1 MYOT LMOD3
6 autosomal dominant distal myopathy 10.3 MYOT DES
7 autosomal recessive limb-girdle muscular dystrophy type 2w 10.3 MYOT DES
8 muscular dystrophy-dystroglycanopathy , type c, 9 10.3 MYOT DES
9 cardiomyopathy, familial restrictive, 2 10.3 MYPN FLNC
10 muscular dystrophy, limb-girdle, autosomal dominant 3 10.3 MYOT DES
11 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 NEB DES
12 foot drop 10.3 NEB MYOT
13 cardiomyopathy, familial restrictive, 3 10.2 MYPN FLNC
14 reducing body myopathy 10.2 NEB DES
15 left ventricular noncompaction 1 10.2 MYPN LDB3
16 autosomal recessive limb-girdle muscular dystrophy type 2q 10.2 TCAP MYOT
17 muscular dystrophy, limb-girdle, autosomal recessive 7 10.2 TCAP MYOT
18 autosomal recessive limb-girdle muscular dystrophy type 2j 10.2 TCAP MYOT
19 autosomal recessive limb-girdle muscular dystrophy type 2h 10.2 TCAP MYOT
20 autosomal recessive limb-girdle muscular dystrophy type 2c 10.2 TCAP MYOT
21 polycystic kidney disease 10.2
22 nemaline myopathy 11, autosomal recessive 10.2 MYPN LMOD3
23 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 TCAP MYOT
24 scapuloperoneal syndrome, neurogenic, kaeser type 10.2 MYOT LDB3 DES
25 dysphagia 10.2 NEB DES
26 muscular dystrophy, limb-girdle, autosomal dominant 2 10.2 TCAP MYOT
27 central core disease of muscle 10.1 NEB MYOT DES
28 typical congenital nemaline myopathy 10.1 NEB LMOD3
29 nemaline myopathy 10 10.1 MYPN LMOD3
30 nonaka myopathy 10.1 MYOT LDB3 FLNC
31 autosomal recessive limb-girdle muscular dystrophy type 2g 10.1 TCAP MYOT DES
32 hyaline body myopathy 10.1 NEB MYOT FLNC
33 autosomal recessive limb-girdle muscular dystrophy type 2d 10.1 TCAP MYOT
34 muscular disease 10.1 NEB MYOT FLNC
35 emery-dreifuss muscular dystrophy 10.1 MYOT LDB3 DES
36 limb-girdle muscular dystrophy type 1a 10.1 TCAP MYOT FLNC
37 autosomal recessive limb-girdle muscular dystrophy type 2a 10.1 TCAP MYOT FLNC
38 childhood-onset nemaline myopathy 10.1 NEB MYPN
39 muscle tissue disease 10.1 NEB MYOT FLNC
40 nemaline myopathy 3 10.1 NEB LMOD3
41 muscular dystrophy, limb-girdle, autosomal recessive 2 10.0 TCAP MYOT DES
42 colorectal cancer 10.0
43 severe congenital nemaline myopathy 10.0 NEB LMOD3
44 limb-girdle muscular dystrophy 10.0
45 cytoplasmic body myopathy 10.0
46 intrinsic cardiomyopathy 10.0 TCAP LDB3 FLNC
47 muscular dystrophy, limb-girdle, autosomal dominant 1 10.0 MYOT BAG3
48 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 TCAP MYOT
49 nemaline myopathy 2 10.0 NEB MYPN LMOD3
50 atrial standstill 1 10.0 MYOT FLNC DES

Graphical network of the top 20 diseases related to Myopathy, Spheroid Body:



Diseases related to Myopathy, Spheroid Body

Symptoms & Phenotypes for Myopathy, Spheroid Body

Human phenotypes related to Myopathy, Spheroid Body:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 tremor 31 HP:0001337
2 dysphagia 31 HP:0002015
3 myopathy 31 HP:0003198
4 elevated serum creatine kinase 31 HP:0003236
5 waddling gait 31 HP:0002515
6 nasal speech 31 HP:0001611
7 abnormality of metabolism/homeostasis 31 HP:0001939
8 broad-based gait 31 HP:0002136
9 proximal amyotrophy 31 HP:0007126
10 distal muscle weakness 31 HP:0002460
11 proximal muscle weakness 31 HP:0003701
12 absent achilles reflex 31 HP:0003438
13 neck flexor weakness 31 HP:0003722

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
dysphagia

Voice:
nasal speech

Head And Neck Neck:
neck flexor muscle weakness

Muscle Soft Tissue:
waddling gait
broad-based gait
muscle weakness, proximal
muscle weakness, distal
myopathic features seen on emg
more
Laboratory Abnormalities:
increased serum creatine kinase

Respiratory:
respiratory difficulties due to muscle weakness in some patients

Clinical features from OMIM®:

182920 (Updated 20-May-2021)

UMLS symptoms related to Myopathy, Spheroid Body:


waddling gait

MGI Mouse Phenotypes related to Myopathy, Spheroid Body:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 BAG3 DES FLNC LDB3 LMOD3 MYOZ1
2 cardiovascular system MP:0005385 9.56 BAG3 DES FLNC LDB3 LMOD3 MYPN
3 muscle MP:0005369 9.28 BAG3 DES FLNC LDB3 LMOD3 MYOZ1

Drugs & Therapeutics for Myopathy, Spheroid Body

Search Clinical Trials , NIH Clinical Center for Myopathy, Spheroid Body

Genetic Tests for Myopathy, Spheroid Body

Genetic tests related to Myopathy, Spheroid Body:

# Genetic test Affiliating Genes
1 Spheroid Body Myopathy 29 MYOT

Anatomical Context for Myopathy, Spheroid Body

MalaCards organs/tissues related to Myopathy, Spheroid Body:

40
Kidney, Spinal Cord, Liver, Prostate

Publications for Myopathy, Spheroid Body

Articles related to Myopathy, Spheroid Body:

(show all 16)
# Title Authors PMID Year
1
A mutation in myotilin causes spheroid body myopathy. 57 6 54 61
16380616 2005
2
Autosomal dominant "spheroid body myopathy". 61 6 57
571956 1978
3
Spheroid body myopathy revisited. 61 57
9270668 1997
4
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. 54 61
16801328 2006
5
Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. 61 54
8627346 1996
6
Expression of myotilin during chicken development. 61
25125173 2014
7
[Myofibrillar myopaathy]. 61
24291893 2013
8
Protein aggregation in congenital myopathies. 61
22172423 2011
9
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? 61
19027924 2009
10
Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. 61
17074808 2007
11
[Spheroid body myopathy: case report]. 61
16100986 2005
12
[Cytoplasmic body myopathy (spheroid body myopathy)]. 61
11555982 2001
13
Familial desmin myopathies and cytoplasmic body myopathies. 54
8922062 1996
14
Desmin pathology in neuromuscular diseases. 61
8242173 1993
15
Congenital myopathies with "diagnostic" pathological features. 61
3323392 1987
16
Induction of spheroid cytoplasmic bodies in a rat muscle by local tetanus. 61
3014329 1986

Variations for Myopathy, Spheroid Body

ClinVar genetic disease variations for Myopathy, Spheroid Body:

6 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.116C>T (p.Ser39Phe) SNV Pathogenic 5839 rs121908461 GRCh37: 5:137206456-137206456
GRCh38: 5:137870767-137870767
2 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.323A>C (p.Asn108Thr) SNV Uncertain significance 281070 rs142416150 GRCh37: 5:137206663-137206663
GRCh38: 5:137870974-137870974
3 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.343G>T (p.Ala115Ser) SNV Uncertain significance 351023 rs114194130 GRCh37: 5:137206683-137206683
GRCh38: 5:137870994-137870994
4 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.*418T>C SNV Uncertain significance 351033 rs778508971 GRCh37: 5:137223492-137223492
GRCh38: 5:137887803-137887803
5 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly) SNV Uncertain significance 288959 rs144731446 GRCh37: 5:137222648-137222648
GRCh38: 5:137886959-137886959
6 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.533G>A (p.Arg178His) SNV Uncertain significance 351025 rs150293853 GRCh37: 5:137213210-137213210
GRCh38: 5:137877521-137877521
7 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1222T>C (p.Leu408=) SNV Uncertain significance 351028 rs886059968 GRCh37: 5:137222584-137222584
GRCh38: 5:137886895-137886895
8 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.-89del Deletion Uncertain significance 351021 rs886059966 GRCh37: 5:137206251-137206251
GRCh38: 5:137870562-137870562
9 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.335T>A (p.Ile112Asn) SNV Uncertain significance 351022 rs752723849 GRCh37: 5:137206675-137206675
GRCh38: 5:137870986-137870986
10 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.*167A>G SNV Uncertain significance 351031 rs886059969 GRCh37: 5:137223241-137223241
GRCh38: 5:137887552-137887552
11 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys) SNV Uncertain significance 351029 rs145427063 GRCh37: 5:137222978-137222978
GRCh38: 5:137887289-137887289
12 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.-165C>T SNV Uncertain significance 351020 rs866748883 GRCh37: 5:137206176-137206176
GRCh38: 5:137870487-137870487
13 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.120T>A (p.Ile40=) SNV Uncertain significance 95438 rs139254363 GRCh37: 5:137206460-137206460
GRCh38: 5:137870771-137870771
14 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.356+13T>G SNV Uncertain significance 903902 GRCh37: 5:137206709-137206709
GRCh38: 5:137871020-137871020
15 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.143C>T (p.Thr48Ile) SNV Uncertain significance 906249 GRCh37: 5:137206483-137206483
GRCh38: 5:137870794-137870794
16 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.191T>A (p.Met64Lys) SNV Uncertain significance 906250 GRCh37: 5:137206531-137206531
GRCh38: 5:137870842-137870842
17 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.629C>T (p.Ser210Leu) SNV Uncertain significance 598376 rs756669574 GRCh37: 5:137213306-137213306
GRCh38: 5:137877617-137877617
18 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.1458G>A (p.Leu486=) SNV Uncertain significance 906366 GRCh37: 5:137223035-137223035
GRCh38: 5:137887346-137887346
19 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.*50T>G SNV Uncertain significance 906367 GRCh37: 5:137223124-137223124
GRCh38: 5:137887435-137887435
20 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.*188A>C SNV Uncertain significance 906368 GRCh37: 5:137223262-137223262
GRCh38: 5:137887573-137887573
21 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.*311A>T SNV Uncertain significance 907372 GRCh37: 5:137223385-137223385
GRCh38: 5:137887696-137887696
22 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.*372G>A SNV Uncertain significance 907373 GRCh37: 5:137223446-137223446
GRCh38: 5:137887757-137887757
23 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.998C>T (p.Thr333Ile) SNV Uncertain significance 521779 rs758194318 GRCh37: 5:137219254-137219254
GRCh38: 5:137883565-137883565
24 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.1397T>G (p.Leu466Arg) SNV Uncertain significance 1030156 GRCh37: 5:137222974-137222974
GRCh38: 5:137887285-137887285
25 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.817-11T>C SNV Uncertain significance 351026 rs377759571 GRCh37: 5:137219062-137219062
GRCh38: 5:137883373-137883373
26 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly) SNV Uncertain significance 288959 rs144731446 GRCh37: 5:137222648-137222648
GRCh38: 5:137886959-137886959
27 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys) SNV Uncertain significance 351029 rs145427063 GRCh37: 5:137222978-137222978
GRCh38: 5:137887289-137887289
28 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.-286C>G SNV Uncertain significance 903840 GRCh37: 5:137203568-137203568
GRCh38: 5:137867879-137867879
29 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.348G>A (p.Met116Ile) SNV Uncertain significance 903901 GRCh37: 5:137206688-137206688
GRCh38: 5:137870999-137870999
30 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.*404G>A SNV Likely benign 904036 GRCh37: 5:137223478-137223478
GRCh38: 5:137887789-137887789
31 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.617G>A (p.Gly206Asp) SNV Likely benign 95441 rs151094883 GRCh37: 5:137213294-137213294
GRCh38: 5:137877605-137877605
32 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.343G>A (p.Ala115Thr) SNV Likely benign 95439 rs114194130 GRCh37: 5:137206683-137206683
GRCh38: 5:137870994-137870994
33 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.445G>C (p.Glu149Gln) SNV Likely benign 95440 rs71578935 GRCh37: 5:137211606-137211606
GRCh38: 5:137875917-137875917
34 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1203T>A (p.Asp401Glu) SNV Likely benign 167318 rs78633961 GRCh37: 5:137222565-137222565
GRCh38: 5:137886876-137886876
35 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.981T>C (p.Asn327=) SNV Likely benign 198547 rs148479015 GRCh37: 5:137219237-137219237
GRCh38: 5:137883548-137883548
36 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.*463C>T SNV Likely benign 351034 rs149535236 GRCh37: 5:137223537-137223537
GRCh38: 5:137887848-137887848
37 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.-233C>A SNV Likely benign 351019 rs186433387 GRCh37: 5:137203621-137203621
GRCh38: 5:137867932-137867932
38 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1008G>T (p.Val336=) SNV Likely benign 198548 rs142828368 GRCh37: 5:137219264-137219264
GRCh38: 5:137883575-137883575
39 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.780G>A (p.Ser260=) SNV Benign 129684 rs116773838 GRCh37: 5:137217758-137217758
GRCh38: 5:137882069-137882069
40 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.*98G>A SNV Benign 351030 rs4288 GRCh37: 5:137223172-137223172
GRCh38: 5:137887483-137887483
41 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1190+12A>G SNV Benign 351027 rs183456886 GRCh37: 5:137221914-137221914
GRCh38: 5:137886225-137886225
42 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.*190C>G SNV Benign 351032 rs74711051 GRCh37: 5:137223264-137223264
GRCh38: 5:137887575-137887575
43 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.-251A>G SNV Benign 351018 rs6863775 GRCh37: 5:137203603-137203603
GRCh38: 5:137867914-137867914
44 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.149A>G (p.Gln50Arg) SNV Benign 129683 rs34717730 GRCh37: 5:137206489-137206489
GRCh38: 5:137870800-137870800

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Spheroid Body:

72
# Symbol AA change Variation ID SNP ID
1 MYOT p.Ser39Phe VAR_029532

Expression for Myopathy, Spheroid Body

Search GEO for disease gene expression data for Myopathy, Spheroid Body.

Pathways for Myopathy, Spheroid Body

Pathways related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 TCAP NEB MYOM1 DES

GO Terms for Myopathy, Spheroid Body

Cellular components related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.18 TCAP SORBS2 PALLD NEBL NEB MYPN
2 cytoskeleton GO:0005856 9.95 PALLD NEB MYOT LMOD3 LDB3 FLNC
3 actin cytoskeleton GO:0015629 9.65 SORBS2 PALLD NEB MYOZ1 MYOT
4 sarcolemma GO:0042383 9.61 MYOT FLNC DES
5 myofibril GO:0030016 9.51 NEB LMOD3
6 I band GO:0031674 9.5 TCAP NEBL MYPN
7 M band GO:0031430 9.49 MYOM1 LMOD3
8 pseudopodium GO:0031143 9.48 MYOZ1 LDB3
9 contractile fiber GO:0043292 9.46 NEB DES
10 stress fiber GO:0001725 9.46 PALLD NEBL LDB3 BAG3
11 Z disc GO:0030018 9.4 TCAP SORBS2 PALLD NEBL NEB MYPN
12 sarcomere GO:0030017 9.26 TCAP NEB MYPN MYOM1

Biological processes related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.65 PALLD MYPN MYOT
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.63 PALLD MYPN MYOT
3 muscle contraction GO:0006936 9.46 MYOT MYOM1 LMOD3 DES
4 dendrite self-avoidance GO:0070593 9.43 PALLD MYPN
5 muscle filament sliding GO:0030049 9.43 TCAP NEB DES
6 myofibril assembly GO:0030239 9.4 MYOZ1 LMOD3
7 skeletal muscle thin filament assembly GO:0030240 9.37 TCAP LMOD3
8 cardiac muscle thin filament assembly GO:0071691 9.32 NEBL NEB
9 muscle fiber development GO:0048747 9.13 NEBL NEB FLNC
10 sarcomere organization GO:0045214 8.92 TCAP MYPN MYOZ1 LDB3

Molecular functions related to Myopathy, Spheroid Body according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.28 TCAP SORBS2 PALLD NEBL NEB MYPN
2 actin filament binding GO:0051015 9.63 NEBL NEB MYOM1
3 actin binding GO:0003779 9.56 PALLD NEBL NEB MYPN MYOZ1 MYOT
4 cytoskeletal protein binding GO:0008092 9.55 NEBL MYPN LDB3 FLNC DES
5 muscle alpha-actinin binding GO:0051371 9.43 PALLD MYPN LDB3
6 cell-cell adhesion mediator activity GO:0098632 9.4 PALLD MYPN
7 tropomyosin binding GO:0005523 9.37 NEBL LMOD3
8 FATZ binding GO:0051373 9.32 TCAP MYOZ1
9 structural constituent of muscle GO:0008307 9.1 TCAP SORBS2 NEBL NEB MYOT MYOM1

Sources for Myopathy, Spheroid Body

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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