MCID: MYH011

Myh7-Related Myosin Storage Myopathy malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Myh7-Related Myosin Storage Myopathy

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33MalaCards
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MalaCards: Myh7-Related Myosin Storage Myopathy, is also known as myopathy, myosin storage An important gene associated with Myh7-Related Myosin Storage Myopathy is MYH7 (myosin, heavy chain 7, cardiac muscle, beta).

Aliases & Classifications for Myh7-Related Myosin Storage Myopathy

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20GeneTests, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

myh7-related myosin storage myopathy 20
myopathy, myosin storage 62


Related Diseases for Myh7-Related Myosin Storage Myopathy

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Diseases in the Myosin Storage Myopathy family:

myh7-related myosin storage myopathy

Symptoms for Myh7-Related Myosin Storage Myopathy

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Drugs & Therapeutics for Myh7-Related Myosin Storage Myopathy

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Myh7-Related Myosin Storage Myopathy

Search NIH Clinical Center for Myh7-Related Myosin Storage Myopathy

Genetic Tests for Myh7-Related Myosin Storage Myopathy

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20GeneTests
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Genetic tests related to Myh7-Related Myosin Storage Myopathy:

id Genetic test Affiliating Genes
1 Myh7-Related Myosin Storage Myopathy20 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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Myh7-Related Myosin Storage Myopathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1MYH7NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp)single nucleotide variantPathogenicrs28933098GRCh37Chr 14, 23884230: 23884230
2MYH7NM_000257.3(MYH7): c.5702A> T (p.His1901Leu)single nucleotide variantPathogenicrs121913649GRCh37Chr 14, 23883056: 23883056
3MYH7NM_000257.3(MYH7): c.5647G> A (p.Glu1883Lys)single nucleotide variantPathogenicrs121913652GRCh37Chr 14, 23883224: 23883224
4MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)single nucleotide variantPathogenicrs121913654GRCh37Chr 14, 23884385: 23884385

Expression for genes affiliated with Myh7-Related Myosin Storage Myopathy

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myh7-Related Myosin Storage Myopathy

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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Compounds 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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Products for genes affiliated with Myh7-Related Myosin Storage Myopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myh7-Related Myosin Storage Myopathy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet