MCID: MSC044
MIFTS: 13

Muscular Dystrophy-Dystroglycanopathy , Type B, 2 malady

Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Eye diseases, Fetal diseases categories
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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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47OMIM, 33MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy , Type B, 2 An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2 is POMT2 (protein-O-mannosyltransferase 2). Affiliated tissues include brain.

Description from OMIM:47 613156

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

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47OMIM
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Classifications:



Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy , type b, 2 47


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

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Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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47OMIM
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Symptoms by clinical synopsis from OMIM:

613156

Clinical features from OMIM:

613156

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

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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

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33MalaCards
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

33
Brain

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

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

64
id Symbol AA change Variation ID SNP ID
1POMT2p.Gly246AspVAR_065039
2POMT2p.Tyr666CysVAR_065045
3POMT2p.Phe717SerVAR_065046
4POMT2p.Gly726GluVAR_065047
5POMT2p.Trp748ArgVAR_065048

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

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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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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