MCID: ARR030

Arrhythmogenic Right Ventricular Dysplasia 2 malady

Genetic diseases (common) category
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Summaries for Arrhythmogenic Right Ventricular Dysplasia 2

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MalaCards based summary: Arrhythmogenic Right Ventricular Dysplasia 2 and has symptoms including An important gene associated with Arrhythmogenic Right Ventricular Dysplasia 2 is RYR2 (ryanodine receptor 2 (cardiac)).

Description from OMIM:46 600996

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia 2

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Arrhythmogenic Right Ventricular Dysplasia 2, Aliases & Descriptions:

Name: Arrhythmogenic Right Ventricular Dysplasia 2 46 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Arrhythmogenic Right Ventricular Dysplasia 2

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Symptoms for Arrhythmogenic Right Ventricular Dysplasia 2

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Symptoms by clinical synopsis from OMIM:

600996

Clinical features from OMIM:

600996

HPO human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 2:

id Description Frequency HPO Source Accession
1 ventricular arrhythmia HP:0004308
2 effort-induced polymorphic ventricular tachycardias HP:0004758
3 ventricular aneurysm HP:0006698
4 right ventricular cardiomyopathy HP:0011663

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia 2

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Drug clinical trials:

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Search NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia 2

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia 2

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Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 2

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Animal Models for Arrhythmogenic Right Ventricular Dysplasia 2 or affiliated genes

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Publications for Arrhythmogenic Right Ventricular Dysplasia 2

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Variations for Arrhythmogenic Right Ventricular Dysplasia 2

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UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 2:

64
id Symbol AA change Variation ID SNP ID
1RYR2p.Leu433ProVAR_011395
2RYR2p.Asn2386IleVAR_011398
3RYR2p.Arg176GlnVAR_044087
4RYR2p.Thr2504MetVAR_044096

Clinvar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 2:

6
id Gene Name Type Significance SNP ID Assembly Location
1RYR2NM_001035.2(RYR2): c.7157A> T (p.Asn2386Ile)single nucleotide variantPathogenicrs121918601GRCh37Chr 1, 237804238: 237804238
2RYR2NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro)single nucleotide variantPathogenicrs121918602GRCh37Chr 1, 237617696: 237617696

Expression for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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Expression patterns in normal tissues for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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Pathways for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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Compounds for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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Products for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Arrhythmogenic Right Ventricular Dysplasia 2

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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