MCID: MYP005
MIFTS: 14

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
ICD10 33 H05.82
ICD9CM 35 376.82
SNOMED-CT 68 57130002
UMLS 73 C0155286

Summaries for Myopathy of Extraocular Muscle

MalaCards based summary : Myopathy of Extraocular Muscle, also known as myopathy of extraocular muscles, is related to bone fracture and congenital fiber-type disproportion. An important gene associated with Myopathy of Extraocular Muscle is PABPN1 (Poly(A) Binding Protein Nuclear 1). Related phenotype is muscle.

Related Diseases for Myopathy of Extraocular Muscle

Diseases related to Myopathy of Extraocular Muscle via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bone fracture 9.7 MYH7 PCOLCE
2 congenital fiber-type disproportion 9.7 MYH7 TNNT3
3 oculopharyngeal muscular dystrophy 9.3 MYH7 PABPN1 PCOLCE
4 myopathy 8.7 MYH7 PABPN1 SYNM

Symptoms & Phenotypes for Myopathy of Extraocular Muscle

MGI Mouse Phenotypes related to Myopathy of Extraocular Muscle:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 APPL1 MYH7 PABPN1 PCOLCE SYNM TNNT3

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

GO Terms for Myopathy of Extraocular Muscle

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

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.26 MYH7 TNNT3
2 muscle filament sliding GO:0030049 9.16 MYH7 TNNT3
3 skeletal muscle contraction GO:0003009 8.96 MYH7 TNNT3
4 muscle contraction GO:0006936 8.8 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 protein binding GO:0005515 9.23 APPL1 MYH7 PABPN1 PCOLCE PRMT3 RNF135

Sources for Myopathy of Extraocular Muscle

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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