RCM3
MCID: TNN012
MIFTS: 12

Tnnt2-Related Familial Restrictive Cardiomyopathy (RCM3) malady

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Tnnt2-Related Familial Restrictive Cardiomyopathy

Aliases & Descriptions for Tnnt2-Related Familial Restrictive Cardiomyopathy:

Name: Tnnt2-Related Familial Restrictive Cardiomyopathy 24
Cardiomyopathy, Familial Restrictive, 3 69
Cardiomyopathy, Familial Restrictive 3 29
Familial Restrictive Cardiomyopathy 3 24
Rcm3 24

Classifications:



Summaries for Tnnt2-Related Familial Restrictive Cardiomyopathy

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

Diseases in the Restrictive Cardiomyopathy family:

Cardiomyopathy, Familial Restrictive, 3 Cardiomyopathy, Familial Restrictive, 2
Cardiomyopathy, Familial Restrictive, 1 Flnc-Related Familial Restrictive Cardiomyopathy
Mypn-Related Familial Restrictive Cardiomyopathy 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:

id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial restrictive, 3 10.8

Symptoms & Phenotypes for Tnnt2-Related Familial Restrictive Cardiomyopathy

Drugs & Therapeutics for Tnnt2-Related Familial Restrictive Cardiomyopathy

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

Genetic Tests for Tnnt2-Related Familial Restrictive Cardiomyopathy

Genetic tests related to Tnnt2-Related Familial Restrictive Cardiomyopathy:

id Genetic test Affiliating Genes
1 Familial Restrictive Cardiomyopathy 3 29
2 Tnnt2-Related Familial Restrictive Cardiomyopathy 24 TNNT2

Anatomical Context for Tnnt2-Related Familial Restrictive Cardiomyopathy

Publications for Tnnt2-Related Familial Restrictive Cardiomyopathy

Variations for Tnnt2-Related Familial Restrictive Cardiomyopathy

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121964855 GRCh37 Chromosome 1, 201334766: 201334766
2 TNNT2 TNNT2, 3-BP DEL, 285GGA deletion Pathogenic
3 TNNT2 NM_001001430.2(TNNT2): c.487_489delGAG (p.Glu163del) deletion Pathogenic/Likely pathogenic rs397516470 GRCh37 Chromosome 1, 201332505: 201332507

Expression for Tnnt2-Related Familial Restrictive Cardiomyopathy

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

Pathways for Tnnt2-Related Familial Restrictive Cardiomyopathy

GO Terms for Tnnt2-Related Familial Restrictive Cardiomyopathy

Sources for Tnnt2-Related Familial Restrictive Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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