MCID: LFT007
MIFTS: 13

Left Ventricular Noncompaction 5 malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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Summaries for Left Ventricular Noncompaction 5

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MalaCards based summary: Left Ventricular Noncompaction 5 An important gene associated with Left Ventricular Noncompaction 5 is MYH7 (myosin, heavy chain 7, cardiac muscle, beta).

Description from OMIM:46 613426

Aliases & Classifications for Left Ventricular Noncompaction 5

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Left Ventricular Noncompaction 5, Aliases & Descriptions:

Name: Left Ventricular Noncompaction 5 20 22 46 62


Classifications:

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


Related Diseases for Left Ventricular Noncompaction 5

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Symptoms for Left Ventricular Noncompaction 5

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Clinical features from OMIM:

613426

Drugs & Therapeutics for Left Ventricular Noncompaction 5

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Drug clinical trials:

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Search NIH Clinical Center for Left Ventricular Noncompaction 5

Genetic Tests for Left Ventricular Noncompaction 5

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Genetic tests related to Left Ventricular Noncompaction 5:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 520 22 MYH7

Anatomical Context for Left Ventricular Noncompaction 5

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Animal Models for Left Ventricular Noncompaction 5 or affiliated genes

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Publications for Left Ventricular Noncompaction 5

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Variations for Left Ventricular Noncompaction 5

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UniProtKB/Swiss-Prot genetic disease variations for Left Ventricular Noncompaction 5:

64 (show all 14)
id Symbol AA change Variation ID SNP ID
1MYH7p.Ala223ThrVAR_017746
2MYH7p.Ser532ProVAR_017747
3MYH7p.Ser642LeuVAR_017748
4MYH7p.Phe764LeuVAR_017751
5MYH7p.Ile201ThrVAR_042768
6MYH7p.Thr412AsnVAR_042781
7MYH7p.Ala550ValVAR_042794
8MYH7p.Thr1019AsnVAR_042819
9MYH7p.Arg1193SerVAR_042822
10MYH7p.Glu1426LysVAR_042826
11MYH7p.Arg1634CysVAR_042833
12MYH7p.Val1044AlaVAR_067260
13MYH7p.Ala1263GluVAR_067262
14MYH7p.Leu1297ValVAR_067263

Clinvar genetic disease variations for Left Ventricular Noncompaction 5:

6
id Gene Name Type Significance SNP ID Assembly Location
1MYH7NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro)single nucleotide variantPathogenicrs121913642GRCh37Chr 14, 23897088: 23897088
2MYH7NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu)single nucleotide variantPathogenicrs121913643GRCh37Chr 14, 23894622: 23894622
3MYH7NM_000257.3(MYH7): c.667G> A (p.Ala223Thr)single nucleotide variantPathogenicrs121913645GRCh37Chr 14, 23900859: 23900859
4MYH7NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu)single nucleotide variantPathogenicrs121913646GRCh37Chr 14, 23896480: 23896480
5MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)single nucleotide variantPathogenicrs121913654GRCh37Chr 14, 23884385: 23884385
6MYH7NM_000257.3(MYH7): c.728G> A (p.Arg243His)single nucleotide variantPathogenicrs267606910GRCh37Chr 14, 23900798: 23900798
7MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicGRCh37Chr 14, 23884383: 23884385
8MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantLikely pathogenicrs397516254GRCh37Chr 14, 23883018: 23883018

Expression for genes affiliated with Left Ventricular Noncompaction 5

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Expression patterns in normal tissues for genes affiliated with Left Ventricular Noncompaction 5

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Pathways for genes affiliated with Left Ventricular Noncompaction 5

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Compounds for genes affiliated with Left Ventricular Noncompaction 5

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GO Terms for genes affiliated with Left Ventricular Noncompaction 5

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Products for genes affiliated with Left Ventricular Noncompaction 5

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  • Antibodies
  • Proteins
  • Lysates

Sources for Left Ventricular Noncompaction 5

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet