MCID: LFT008
MIFTS: 15

Left Ventricular Noncompaction 6 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Left Ventricular Noncompaction 6

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Sources:
48OMIM, 34MalaCards
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MalaCards: Left Ventricular Noncompaction 6, is also known as cardiomyopathy, dilated, 1d An important gene associated with Left Ventricular Noncompaction 6 is TNNT2 (troponin T type 2 (cardiac)).

Description from OMIM:48 601494

Aliases & Classifications for Left Ventricular Noncompaction 6

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:

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


Aliases & Descriptions:

left ventricular noncompaction 6 21 23 48
cardiomyopathy, dilated, 1d 63


Related Diseases for Left Ventricular Noncompaction 6

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Symptoms for Left Ventricular Noncompaction 6

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Sources:
48OMIM
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Clinical features from OMIM:

601494

Drugs & Therapeutics for Left Ventricular Noncompaction 6

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Left Ventricular Noncompaction 6

Drug clinical trials:

Search ClinicalTrials for Left Ventricular Noncompaction 6

Search NIH Clinical Center for Left Ventricular Noncompaction 6

Search CenterWatch for Left Ventricular Noncompaction 6

Genetic Tests for Left Ventricular Noncompaction 6

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21GeneTests, 23GTR
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Genetic tests related to Left Ventricular Noncompaction 6:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 621 23 TNNT2

Anatomical Context for Left Ventricular Noncompaction 6

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Animal Models for Left Ventricular Noncompaction 6 or affiliated genes

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Publications for Left Ventricular Noncompaction 6

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Variations for Left Ventricular Noncompaction 6

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Left Ventricular Noncompaction 6:

65
id Symbol AA change Variation ID SNP ID
1TNNT2p.Arg151TrpVAR_016198
2TNNT2p.Arg141TrpVAR_043983
3TNNT2p.Arg215LeuVAR_043984

Clinvar genetic disease variations for Left Ventricular Noncompaction 6:

1
id Gene Name Type Significance SNP ID Assembly Location
1TNNT2NM_000364.3(TNNT2): c.266T> A (p.Ile89Asn)single nucleotide variantPathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
2TNNT2NM_000364.3(TNNT2): c.649_651delAAG (p.Lys217del)deletionPathogenicrs121964859GRCh37Chr 1, 201331100: 201331102
3TNNT2NM_000364.3(TNNT2): c.451C> T (p.Arg151Trp)single nucleotide variantPathogenicrs74315379GRCh37Chr 1, 201333464: 201333464
4TNNT2NM_000364.3(TNNT2): c.421C> T (p.Arg141Trp)single nucleotide variantLikely pathogenic, Pathogenic, Uncertain significancers74315380GRCh37Chr 1, 201333494: 201333494
5TNNT2NM_000364.3(TNNT2): c.635G> T (p.Arg212Leu)single nucleotide variantPathogenicrs121964860GRCh37Chr 1, 201331116: 201331116
6TNNT2NM_000364.3(TNNT2): c.829G> A (p.Asp277Asn)single nucleotide variantPathogenicrs121964861GRCh37Chr 1, 201328764: 201328764

Expression for genes affiliated with Left Ventricular Noncompaction 6

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Left Ventricular Noncompaction 6

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Pathways for genes affiliated with Left Ventricular Noncompaction 6

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Compounds for genes affiliated with Left Ventricular Noncompaction 6

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GO Terms for genes affiliated with Left Ventricular Noncompaction 6

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Products for genes affiliated with Left Ventricular Noncompaction 6

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Left Ventricular Noncompaction 6

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet