MCID: MYP067

Myopathy, Distal, Tateyama Type malady

Summaries for Myopathy, Distal, Tateyama Type

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46OMIM, 32MalaCards
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MalaCards: Myopathy, Distal, Tateyama Type An important gene associated with Myopathy, Distal, Tateyama Type is CAV3 (caveolin 3).

Description from OMIM:46 614321

Aliases & Classifications for Myopathy, Distal, Tateyama Type

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46OMIM
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Aliases & Descriptions:

myopathy, distal, tateyama type 46


Related Diseases for Myopathy, Distal, Tateyama Type

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Clinical Features for Myopathy, Distal, Tateyama Type

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46OMIM
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Clinical features from OMIM:

614321

Clinical synopsis from OMIM:

614321

Drugs & Therapeutics for Myopathy, Distal, Tateyama Type

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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, Distal, Tateyama Type

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Anatomical Context for Myopathy, Distal, Tateyama Type

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Animal Models for Myopathy, Distal, Tateyama Type or affiliated genes

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Publications for Myopathy, Distal, Tateyama Type

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Genetic Variations for Myopathy, Distal, Tateyama Type

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Myopathy, Distal, Tateyama Type:

62
id Symbol AA change Variation ID SNP ID
1CAV3p.Arg27GlnVAR_011512
2CAV3p.Asn33LysVAR_021016rs1008642

Expression for genes affiliated with Myopathy, Distal, Tateyama Type

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myopathy, Distal, Tateyama Type

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Pathways for genes affiliated with Myopathy, Distal, Tateyama Type

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Compounds for genes affiliated with Myopathy, Distal, Tateyama Type

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GO Terms for genes affiliated with Myopathy, Distal, Tateyama Type

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Products for genes affiliated with Myopathy, Distal, Tateyama Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myopathy, Distal, Tateyama 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