MCID: MYP005
MIFTS: 20

Myopathy of Extraocular Muscle

Categories: Muscle diseases

Aliases & Classifications for Myopathy of Extraocular Muscle

MalaCards integrated aliases for Myopathy of Extraocular Muscle:

Name: Myopathy of Extraocular Muscle 12 15
Myopathy of Extraocular Muscles 12

Classifications:



External Ids:

Disease Ontology 12 DOID:929
ICD9CM 36 376.82
SNOMED-CT 69 57130002
ICD10 34 H05.82
UMLS 74 C0155286

Summaries for Myopathy of Extraocular Muscle

MalaCards based summary : Myopathy of Extraocular Muscle, also known as myopathy of extraocular muscles, is related to myosin storage myopathy and myopathy, distal, 1. An important gene associated with Myopathy of Extraocular Muscle is PABPN1 (Poly(A) Binding Protein Nuclear 1), and among its related pathways/superpathways are Cardiac muscle contraction and Striated Muscle Contraction. Related phenotype is muscle.

Related Diseases for Myopathy of Extraocular Muscle

Graphical network of the top 20 diseases related to Myopathy of Extraocular Muscle:



Diseases related to Myopathy of Extraocular Muscle

Symptoms & Phenotypes for Myopathy of Extraocular Muscle

MGI Mouse Phenotypes related to Myopathy of Extraocular Muscle:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 APPL1 MYH6 MYH7 PABPN1 PCOLCE SYNM

Drugs & Therapeutics for Myopathy of Extraocular Muscle

Search Clinical Trials , NIH Clinical Center for Myopathy of Extraocular Muscle

Genetic Tests for Myopathy of Extraocular Muscle

Anatomical Context for Myopathy of Extraocular Muscle

Publications for Myopathy of Extraocular Muscle

Variations for Myopathy of Extraocular Muscle

Expression for Myopathy of Extraocular Muscle

Search GEO for disease gene expression data for Myopathy of Extraocular Muscle.

Pathways for Myopathy of Extraocular Muscle

Pathways related to Myopathy of Extraocular Muscle according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.05 MYH6 MYH7
2 10.81 MYH6 TNNT3
3 10.42 MYH6 MYH7

GO Terms for Myopathy of Extraocular Muscle

Cellular components related to Myopathy of Extraocular Muscle according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 9.37 MYH6 MYH7
2 stress fiber GO:0001725 9.32 MYH6 MYH7
3 myosin complex GO:0016459 9.26 MYH6 MYH7
4 myofibril GO:0030016 9.16 MYH6 MYH7
5 myosin filament GO:0032982 8.96 MYH6 MYH7
6 muscle myosin complex GO:0005859 8.62 MYH6 MYH7

Biological processes related to Myopathy of Extraocular Muscle according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 sarcomere organization GO:0045214 9.52 MYH6 TNNT3
2 ATP metabolic process GO:0046034 9.51 MYH6 MYH7
3 regulation of heart rate GO:0002027 9.49 MYH6 MYH7
4 skeletal muscle contraction GO:0003009 9.48 MYH7 TNNT3
5 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.46 MYH6 MYH7
6 regulation of the force of heart contraction GO:0002026 9.43 MYH6 MYH7
7 striated muscle contraction GO:0006941 9.4 MYH6 MYH7
8 adult heart development GO:0007512 9.37 MYH6 MYH7
9 cardiac muscle contraction GO:0060048 9.33 MYH6 MYH7 TNNT3
10 cardiac muscle hypertrophy in response to stress GO:0014898 9.32 MYH6 MYH7
11 regulation of ATPase activity GO:0043462 9.26 MYH6 TNNT3
12 muscle filament sliding GO:0030049 9.13 MYH6 MYH7 TNNT3
13 muscle contraction GO:0006936 8.92 MYH6 MYH7 PABPN1 TNNT3

Molecular functions related to Myopathy of Extraocular Muscle according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.33 MYH6 MYH7 TNNT3
2 microfilament motor activity GO:0000146 8.96 MYH6 MYH7
3 actin-dependent ATPase activity GO:0030898 8.62 MYH6 MYH7

Sources for Myopathy of Extraocular Muscle

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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