MCID: CRD056

Cardiomyopathy, Familial Hypertrophic, 11 malady

Cardiovascular, Genetic categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 11

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47OMIM, 33MalaCards
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MalaCards: Cardiomyopathy, Familial Hypertrophic, 11 An important gene associated with Cardiomyopathy, Familial Hypertrophic, 11 is ACTC1 (actin, alpha, cardiac muscle 1).

Description from OMIM:47 612098

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 11

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47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Cardiovascular


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic, 11 47


Clinical Features for Cardiomyopathy, Familial Hypertrophic, 11

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47OMIM
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Clinical features from OMIM:

612098

Clinical synopsis from OMIM:

612098

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 11

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 11

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 11

Animal Models for Cardiomyopathy, Familial Hypertrophic, 11 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Cardiomyopathy, Familial Hypertrophic, 11

Genetic Variations for Cardiomyopathy, Familial Hypertrophic, 11

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 11:

63
id Symbol AA change Variation SNP ID
1ACTC1p.Glu101LysVAR_012857
2ACTC1p.Pro166AlaVAR_012858
3ACTC1p.Ala297SerVAR_012859
4ACTC1p.Ala333ProVAR_012861
5ACTC1p.His90TyrVAR_045924
6ACTC1p.Arg97CysVAR_045925
7ACTC1p.Tyr168CysVAR_046503
8ACTC1p.Met307LeuVAR_046504

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 11.

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 11

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic, 11

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet