MCID: MSC041
MIFTS: 14

Muscular Dystrophy-Dystroglycanopathy , Type a, 6 malady

Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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48OMIM, 34MalaCards
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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 eye and brain.

Description from OMIM:48 613154

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

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48OMIM
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Classifications:



Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy , type a, 6 48


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

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Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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48OMIM
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Symptoms by clinical synopsis from OMIM:

613154

Clinical features from OMIM:

613154

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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

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34MalaCards
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

34
Eye, Brain

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

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

65
id Symbol AA change Variation ID SNP ID
1LARGEp.Ser331PheVAR_065064
2LARGEp.Trp495ArgVAR_065065

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

1
id Gene Name Type Significance SNP ID Assembly Location
1LARGELARGE, 63-KB DELdeletionPathogenic
2LARGENM_004737.4(LARGE): c.1483T> C (p.Trp495Arg)single nucleotide variantPathogenicrs267607209GRCh37Chr 22, 33700462: 33700462
3LARGELARGE, GLN87FSundetermined variantPathogenic
4LARGENM_004737.4(LARGE): c.992C> T (p.Ser331Phe)single nucleotide variantPathogenicrs267607210GRCh37Chr 22, 33780191: 33780191

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type a, 6

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet