MCID: LFT006
MIFTS: 11

Left Ventricular Noncompaction 4 malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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Summaries for Left Ventricular Noncompaction 4

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Sources:
47OMIM, 33MalaCards
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MalaCards: Left Ventricular Noncompaction 4 An important gene associated with Left Ventricular Noncompaction 4 is ACTC1 (actin, alpha, cardiac muscle 1).

Description from OMIM:47 613424

Aliases & Classifications for Left Ventricular Noncompaction 4

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Sources:
20GeneTests, 22GTR, 47OMIM, 62UMLS
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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 4 20 22 47 62


Related Diseases for Left Ventricular Noncompaction 4

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Symptoms for Left Ventricular Noncompaction 4

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47OMIM
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Clinical features from OMIM:

613424

Drugs & Therapeutics for Left Ventricular Noncompaction 4

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Left Ventricular Noncompaction 4

Search NIH Clinical Center for Left Ventricular Noncompaction 4

Genetic Tests for Left Ventricular Noncompaction 4

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20GeneTests, 22GTR
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Genetic tests related to Left Ventricular Noncompaction 4:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 420 22 ACTC1

Anatomical Context for Left Ventricular Noncompaction 4

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Animal Models for Left Ventricular Noncompaction 4 or affiliated genes

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Publications for Left Ventricular Noncompaction 4

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Variations for Left Ventricular Noncompaction 4

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Left Ventricular Noncompaction 4:

64
id Symbol AA change Variation ID SNP ID
1ACTC1p.Arg314HisVAR_012860
2ACTC1p.Glu363GlyVAR_012862

Clinvar genetic disease variations for Left Ventricular Noncompaction 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_005159.4(ACTC1): c.941G> A (p.Arg314His)single nucleotide variantPathogenicrs121912673GRCh37Chr 15, 35083364: 35083364
2NM_005159.4(ACTC1): c.1088A> G (p.Glu363Gly)single nucleotide variantPathogenicrs121912674GRCh37Chr 15, 35082659: 35082659
3NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys)single nucleotide variantPathogenicrs193922680GRCh37Chr 15, 35085599: 35085599

Expression for genes affiliated with Left Ventricular Noncompaction 4

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Left Ventricular Noncompaction 4

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Pathways for genes affiliated with Left Ventricular Noncompaction 4

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Compounds for genes affiliated with Left Ventricular Noncompaction 4

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GO Terms for genes affiliated with Left Ventricular Noncompaction 4

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Products for genes affiliated with Left Ventricular Noncompaction 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Left Ventricular Noncompaction 4

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet