MCID: ARR030

Arrhythmogenic Right Ventricular Dysplasia 2 malady

Genetic diseases (common) category

Summaries for Arrhythmogenic Right Ventricular Dysplasia 2

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Sources:
48OMIM, 34MalaCards
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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:48 600996

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia 2

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Sources:
48OMIM
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Classifications:

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


Aliases & Descriptions:

arrhythmogenic right ventricular dysplasia 2 48


Related Diseases for Arrhythmogenic Right Ventricular Dysplasia 2

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Symptoms for Arrhythmogenic Right Ventricular Dysplasia 2

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Sources:
48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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:
65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 2:

65
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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia 2.

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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet