MCID: MSC043
MIFTS: 13

Muscular Dystrophy-Dystroglycanopathy , Type a, 2 malady

Muscle diseases category

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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46OMIM, 32MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy , Type a, 2 An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2 is POMT2 (protein-O-mannosyltransferase 2). Affiliated tissues include eye and brain.

Description from OMIM:46 613150

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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46OMIM
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Classifications:

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


Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy , type a, 2 46


Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Clinical Features for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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46OMIM
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Clinical features from OMIM:

613150

Clinical synopsis from OMIM:

613150

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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5CenterWatch, 41NIH 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, 2

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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32MalaCards
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

32
Eye, Brain

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type a, 2 or affiliated genes

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Genetic Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

62
id Symbol AA change Variation ID SNP ID
1POMT2p.Ile198AsnVAR_065038
2POMT2p.Gly353SerVAR_065040
3POMT2p.Val373PheVAR_065041
4POMT2p.Arg413ProVAR_065042rs190285831
5POMT2p.Gly482ValVAR_065044
6POMT2p.Tyr666CysVAR_065045
7POMT2p.Gly726GluVAR_065047
8POMT2p.His478ArgVAR_068968

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type a, 2

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Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet