MCID: CRD058

Cardiomyopathy, Familial Hypertrophic, 3 malady

Cardiovascular, Genetic categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 3

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47OMIM, 33MalaCards
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MalaCards: Cardiomyopathy, Familial Hypertrophic, 3 An important gene associated with Cardiomyopathy, Familial Hypertrophic, 3 is TPM1 (tropomyosin 1 (alpha)).

Description from OMIM:47 115196

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 3

Sources:
47OMIM
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Classifications:

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


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic, 3 47


Clinical Features for Cardiomyopathy, Familial Hypertrophic, 3

Sources:
47OMIM
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Clinical features from OMIM:

115196

Clinical synopsis from OMIM:

115196

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 3

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, 3

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 3

Animal Models for Cardiomyopathy, Familial Hypertrophic, 3 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Cardiomyopathy, Familial Hypertrophic, 3

Sources:
51PubMed
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Articles related to Cardiomyopathy, Familial Hypertrophic, 3:

idTitleAuthorsYear
1
The role of Akt/GSK-3beta signaling in familial hypertrophic cardiomyopathy. (19233194)
2009

Genetic Variations for Cardiomyopathy, Familial Hypertrophic, 3

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 3:

63
id Symbol AA change Variation SNP ID
1TPM1p.Asp175AsnVAR_007601rs28934270
2TPM1p.Glu180GlyVAR_007602rs28934269
3TPM1p.Ala63ValVAR_013135
4TPM1p.Glu180ValVAR_029452

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 3.

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic, 3

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