MCID: CRD065

Cardiomyopathy, Familial Hypertrophic, 2 malady

Cardiovascular, Genetic categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 2

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47OMIM, 33MalaCards
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MalaCards: Cardiomyopathy, Familial Hypertrophic, 2 is related to dilated cardiomyopathy and cardiomyopathy, dilated, 1d. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 2 is TNNT2 (troponin T type 2 (cardiac)).

Description from OMIM:47 115195

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 2

Sources:
47OMIM
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Classifications:

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


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic, 2 47


Related Diseases for Cardiomyopathy, Familial Hypertrophic, 2

Sources:
17GeneCards, 18GeneDecks
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Clinical Features for Cardiomyopathy, Familial Hypertrophic, 2

Sources:
47OMIM
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Clinical features from OMIM:

115195

Clinical synopsis from OMIM:

115195

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 2

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

Search CenterWatch for Cardiomyopathy, Familial Hypertrophic, 2

Drug clinical trials:

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Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 2

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 2

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 2

Animal Models for Cardiomyopathy, Familial Hypertrophic, 2 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Cardiomyopathy, Familial Hypertrophic, 2

Genetic Variations for Cardiomyopathy, Familial Hypertrophic, 2

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 2:

63 (show all 18)
id Symbol AA change Variation SNP ID
1TNNT2p.Ile89AsnVAR_007605
2TNNT2p.Arg102GlnVAR_007606
3TNNT2p.Phe120IleVAR_007607
4TNNT2p.Glu173LysVAR_007609
5TNNT2p.Glu254AspVAR_007610rs45466197
6TNNT2p.Arg288CysVAR_007612
7TNNT2p.Arg288ProVAR_007613
8TNNT2p.Arg104LeuVAR_009194
9TNNT2p.Arg102LeuVAR_016195
10TNNT2p.Arg102TrpVAR_016196
11TNNT2p.Ala114ValVAR_016197
12TNNT2p.Ser189PheVAR_016199
13TNNT2p.Phe80LeuVAR_019877
14TNNT2p.Phe120ValVAR_019878
15TNNT2p.Asn281IleVAR_019879
16TNNT2p.Arg296CysVAR_019880
17TNNT2p.Arg140CysVAR_042747
18TNNT2p.Ala38ValVAR_067259rs200754249

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 2.

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic, 2

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