MCID: MYH011
MIFTS: 12

Myh7-Related Myosin Storage Myopathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Myh7-Related Myosin Storage Myopathy

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Aliases & Descriptions for Myh7-Related Myosin Storage Myopathy:

Name: Myh7-Related Myosin Storage Myopathy 22
Myopathy, Myosin Storage 22 65
 
Hyaline Body Myopathy, Autosomal Dominant 22

Classifications:



External Ids:

UMLS65 C1842160

Summaries for Myh7-Related Myosin Storage Myopathy

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MalaCards based summary: Myh7-Related Myosin Storage Myopathy, also known as myopathy, myosin storage, is related to myopathy, myosin storage, autosomal recessive and myopathy, myosin storage, autosomal dominant, and has symptoms including waddling gait An important gene associated with Myh7-Related Myosin Storage Myopathy is MYH7 (Myosin, Heavy Chain 7, Cardiac Muscle, Beta).

Related Diseases for Myh7-Related Myosin Storage Myopathy

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Diseases in the Myosin Storage Myopathy family:

Myopathy, Myosin Storage, Autosomal Dominant Myopathy, Myosin Storage, Autosomal Recessive
myh7-related myosin storage myopathy

Diseases related to Myh7-Related Myosin Storage Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myosin storage, autosomal recessive12.4
2myopathy, myosin storage, autosomal dominant11.3

Symptoms for Myh7-Related Myosin Storage Myopathy

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UMLS symptoms related to Myh7-Related Myosin Storage Myopathy:


waddling gait

Drugs & Therapeutics for Myh7-Related Myosin Storage Myopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myh7-Related Myosin Storage Myopathy

Genetic Tests for Myh7-Related Myosin Storage Myopathy

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Genetic tests related to Myh7-Related Myosin Storage Myopathy:

id Genetic test Affiliating Genes
1 Myh7-Related Myosin Storage Myopathy22 MYH7

Anatomical Context for Myh7-Related Myosin Storage Myopathy

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Animal Models for Myh7-Related Myosin Storage Myopathy or affiliated genes

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Publications for Myh7-Related Myosin Storage Myopathy

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Variations for Myh7-Related Myosin Storage Myopathy

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Clinvar genetic disease variations for Myh7-Related Myosin Storage Myopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH7NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp)single nucleotide variantPathogenicrs28933098GRCh37Chr 14, 23884230: 23884230

Expression for genes affiliated with Myh7-Related Myosin Storage Myopathy

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Search GEO for disease gene expression data for Myh7-Related Myosin Storage Myopathy.

Pathways for genes affiliated with Myh7-Related Myosin Storage Myopathy

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GO Terms for genes affiliated with Myh7-Related Myosin Storage Myopathy

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Sources for Myh7-Related Myosin Storage Myopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet