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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Sources:
47OMIM, 33MalaCards
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MalaCards: Arrhythmogenic Right Ventricular Dysplasia 2 An important gene associated with Arrhythmogenic Right Ventricular Dysplasia 2 is RYR2 (ryanodine receptor 2 (cardiac)).

Description from OMIM:47 600996

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia 2

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47OMIM
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Classifications:

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


Aliases & Descriptions:

arrhythmogenic right ventricular dysplasia 2 47


Related Diseases for Arrhythmogenic Right Ventricular Dysplasia 2

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Symptoms for Arrhythmogenic Right Ventricular Dysplasia 2

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47OMIM
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Symptoms by clinical synopsis from OMIM:

600996

Clinical features from OMIM:

600996

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia 2

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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Sources:
64UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Arrhythmogenic Right Ventricular Dysplasia 2

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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