MCID: TNN012
MIFTS: 10

Tnnt2-Related Familial Restrictive Cardiomyopathy malady

Categories: Genetic diseases (common), Cardiovascular diseases

Aliases & Classifications for Tnnt2-Related Familial Restrictive Cardiomyopathy

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Aliases & Descriptions for Tnnt2-Related Familial Restrictive Cardiomyopathy:

Name: Tnnt2-Related Familial Restrictive Cardiomyopathy 22
Cardiomyopathy, Familial Restrictive, 3 65
Cardiomyopathy, Familial Restrictive 3 24
 
Familial Restrictive Cardiomyopathy 3 22
Rcm3 22

Classifications:



External Ids:

UMLS65 C2676271

Summaries for Tnnt2-Related Familial Restrictive Cardiomyopathy

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MalaCards based summary: Tnnt2-Related Familial Restrictive Cardiomyopathy, also known as cardiomyopathy, familial restrictive, 3, is related to cardiomyopathy, familial restrictive, 3. An important gene associated with Tnnt2-Related Familial Restrictive Cardiomyopathy is TNNT2 (Troponin T2, Cardiac Type).

Related Diseases for Tnnt2-Related Familial Restrictive Cardiomyopathy

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Diseases in the Restrictive Cardiomyopathy family:

Cardiomyopathy, Familial Restrictive, 3 Cardiomyopathy, Familial Restrictive, 2
Cardiomyopathy, Familial Restrictive, 1 Tnni3-Related Familial Restrictive Cardiomyopathy
tnnt2-related familial restrictive cardiomyopathy

Diseases related to Tnnt2-Related Familial Restrictive Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, familial restrictive, 311.0

Symptoms for Tnnt2-Related Familial Restrictive Cardiomyopathy

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Drugs & Therapeutics for Tnnt2-Related Familial Restrictive Cardiomyopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Tnnt2-Related Familial Restrictive Cardiomyopathy

Genetic Tests for Tnnt2-Related Familial Restrictive Cardiomyopathy

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Genetic tests related to Tnnt2-Related Familial Restrictive Cardiomyopathy:

id Genetic test Affiliating Genes
1 Tnnt2-Related Familial Restrictive Cardiomyopathy22 TNNT2

Anatomical Context for Tnnt2-Related Familial Restrictive Cardiomyopathy

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Animal Models for Tnnt2-Related Familial Restrictive Cardiomyopathy or affiliated genes

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Publications for Tnnt2-Related Familial Restrictive Cardiomyopathy

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Variations for Tnnt2-Related Familial Restrictive Cardiomyopathy

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Clinvar genetic disease variations for Tnnt2-Related Familial Restrictive Cardiomyopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TNNT2NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn)single nucleotide variantLikely pathogenic, Pathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
2TNNT2NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121964857GRCh37Chr 1, 201328373: 201328373

Expression for genes affiliated with Tnnt2-Related Familial Restrictive Cardiomyopathy

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Search GEO for disease gene expression data for Tnnt2-Related Familial Restrictive Cardiomyopathy.

Pathways for genes affiliated with Tnnt2-Related Familial Restrictive Cardiomyopathy

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GO Terms for genes affiliated with Tnnt2-Related Familial Restrictive Cardiomyopathy

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Sources for Tnnt2-Related Familial Restrictive Cardiomyopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet