MCID: MSC041

Muscular Dystrophy-Dystroglycanopathy , Type a, 6 malady

Muscle category

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Sources:
47OMIM, 33MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy , Type a, 6 An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6 is LARGE (like-glycosyltransferase). Affiliated tissues include brain.

Description from OMIM:47 613154

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle


Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy , type a, 6 47


Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Clinical Features for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Sources:
47OMIM
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Clinical features from OMIM:

613154

Clinical synopsis from OMIM:

613154

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Sources:
33MalaCards
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

33
Brain

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type a, 6 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Genetic Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

63
id Symbol AA change Variation SNP ID
1LARGEp.Ser331PheVAR_065064
2LARGEp.Trp495ArgVAR_065065

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type a, 6

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 6.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet