MCID: CNG234

Congenital Myopathy, Paradas Type malady

Neuronal diseases category

Summaries for Congenital Myopathy, Paradas Type

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32MalaCards
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MalaCards: Congenital Myopathy, Paradas Type An important gene associated with Congenital Myopathy, Paradas Type is DYSF (dysferlin).

Aliases & Classifications for Congenital Myopathy, Paradas Type

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48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
congenital myopathy, paradas type:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital myopathy, paradas type 48


External Ids:

ICD10 via Orphanet26 G71.2

Related Diseases for Congenital Myopathy, Paradas Type

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Clinical Features for Congenital Myopathy, Paradas Type

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Drugs & Therapeutics for Congenital Myopathy, Paradas Type

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Sources:
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 Congenital Myopathy, Paradas Type

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Anatomical Context for Congenital Myopathy, Paradas Type

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Animal Models for Congenital Myopathy, Paradas Type or affiliated genes

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Publications for Congenital Myopathy, Paradas Type

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Genetic Variations for Congenital Myopathy, Paradas Type

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Expression for genes affiliated with Congenital Myopathy, Paradas Type

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Myopathy, Paradas Type

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Pathways for genes affiliated with Congenital Myopathy, Paradas Type

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Compounds for genes affiliated with Congenital Myopathy, Paradas Type

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GO Terms for genes affiliated with Congenital Myopathy, Paradas Type

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Products for genes affiliated with Congenital Myopathy, Paradas Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Myopathy, Paradas Type

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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