MCID: HYP250
MIFTS: 5

Hypertrophic Cardiomyopathy, Midventricular, Digenic malady

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Hypertrophic Cardiomyopathy, Midventricular, Digenic

Aliases & Descriptions for Hypertrophic Cardiomyopathy, Midventricular, Digenic:

Name: Hypertrophic Cardiomyopathy, Midventricular, Digenic 24 29

Classifications:



Summaries for Hypertrophic Cardiomyopathy, Midventricular, Digenic

MalaCards based summary : Hypertrophic Cardiomyopathy, Midventricular, Digenic An important gene associated with Hypertrophic Cardiomyopathy, Midventricular, Digenic is MYLK2 (Myosin Light Chain Kinase 2).

Related Diseases for Hypertrophic Cardiomyopathy, Midventricular, Digenic

Symptoms & Phenotypes for Hypertrophic Cardiomyopathy, Midventricular, Digenic

Drugs & Therapeutics for Hypertrophic Cardiomyopathy, Midventricular, Digenic

Search Clinical Trials , NIH Clinical Center for Hypertrophic Cardiomyopathy, Midventricular, Digenic

Genetic Tests for Hypertrophic Cardiomyopathy, Midventricular, Digenic

Genetic tests related to Hypertrophic Cardiomyopathy, Midventricular, Digenic:

id Genetic test Affiliating Genes
1 Cardiomyopathy, Hypertrophic, Midventricular, Digenic 29
2 Hypertrophic Cardiomyopathy, Midventricular, Digenic 24 MYLK2

Anatomical Context for Hypertrophic Cardiomyopathy, Midventricular, Digenic

Publications for Hypertrophic Cardiomyopathy, Midventricular, Digenic

Variations for Hypertrophic Cardiomyopathy, Midventricular, Digenic

ClinVar genetic disease variations for Hypertrophic Cardiomyopathy, Midventricular, Digenic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYLK2 NM_033118.3(MYLK2): c.260C> T (p.Ala87Val) single nucleotide variant Pathogenic rs121908107 GRCh37 Chromosome 20, 30408136: 30408136
2 MYH7 MYH7, GLU743ASP undetermined variant Pathogenic

Expression for Hypertrophic Cardiomyopathy, Midventricular, Digenic

Search GEO for disease gene expression data for Hypertrophic Cardiomyopathy, Midventricular, Digenic.

Pathways for Hypertrophic Cardiomyopathy, Midventricular, Digenic

GO Terms for Hypertrophic Cardiomyopathy, Midventricular, Digenic

Sources for Hypertrophic Cardiomyopathy, Midventricular, Digenic

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
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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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