MCID: MYP081
MIFTS: 12

Myopathy, Myofibrillar, 6 malady

Neuronal diseases, Muscle diseases categories

Summaries for Myopathy, Myofibrillar, 6

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Sources:
46OMIM, 32MalaCards
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MalaCards: Myopathy, Myofibrillar, 6, is also known as muscular dystrophy, selcen type An important gene associated with Myopathy, Myofibrillar, 6 is BAG3 (BCL2-associated athanogene 3).

Description from OMIM:46 612954

Aliases & Classifications for Myopathy, Myofibrillar, 6

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
muscular dystrophy, selcen type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

myopathy, myofibrillar, 6 46
muscular dystrophy, selcen type 48


External Ids:

OMIM46 612954
ICD10 via Orphanet26 G71.8

Related Diseases for Myopathy, Myofibrillar, 6

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Clinical Features for Myopathy, Myofibrillar, 6

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46OMIM
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Clinical features from OMIM:

612954

Clinical synopsis from OMIM:

612954

Drugs & Therapeutics for Myopathy, Myofibrillar, 6

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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 Myopathy, Myofibrillar, 6

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Anatomical Context for Myopathy, Myofibrillar, 6

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Animal Models for Myopathy, Myofibrillar, 6 or affiliated genes

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Publications for Myopathy, Myofibrillar, 6

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Genetic Variations for Myopathy, Myofibrillar, 6

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Myopathy, Myofibrillar, 6:

62
id Symbol AA change Variation ID SNP ID
1BAG3p.Pro209LeuVAR_063089rs121918312

Expression for genes affiliated with Myopathy, Myofibrillar, 6

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myopathy, Myofibrillar, 6

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Pathways for genes affiliated with Myopathy, Myofibrillar, 6

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Compounds for genes affiliated with Myopathy, Myofibrillar, 6

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GO Terms for genes affiliated with Myopathy, Myofibrillar, 6

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Products for genes affiliated with Myopathy, Myofibrillar, 6

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myopathy, Myofibrillar, 6

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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