MCID: LFT006
MIFTS: 10

Left Ventricular Noncompaction 4 malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Summaries for Left Ventricular Noncompaction 4

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MalaCards based summary: Left Ventricular Noncompaction 4 An important gene associated with Left Ventricular Noncompaction 4 is ACTC1 (actin, alpha, cardiac muscle 1).

Description from OMIM:46 613424

Aliases & Classifications for Left Ventricular Noncompaction 4

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Left Ventricular Noncompaction 4, Aliases & Descriptions:

Name: Left Ventricular Noncompaction 4 21 23 46 61


Classifications:

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


Related Diseases for Left Ventricular Noncompaction 4

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Symptoms for Left Ventricular Noncompaction 4

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Clinical features from OMIM:

613424

Drugs & Therapeutics for Left Ventricular Noncompaction 4

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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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Genetic tests related to Left Ventricular Noncompaction 4:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 421 23 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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UniProtKB/Swiss-Prot genetic disease variations for Left Ventricular Noncompaction 4:

63
id Symbol AA change Variation ID SNP ID
1ACTC1p.Arg314HisVAR_012860
2ACTC1p.Glu363GlyVAR_012862

Clinvar genetic disease variations for Left Ventricular Noncompaction 4:

7
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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Expression patterns in normal tissues for genes affiliated with Left Ventricular Noncompaction 4

Search GEO for disease gene expression data for Left Ventricular Noncompaction 4.

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
  • Proteins
  • Kits and Assays

Sources for Left Ventricular Noncompaction 4

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet