MCID: VNT013
MIFTS: 17

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 malady

Genetic diseases, Rare diseases categories
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Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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MalaCards: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 is related to catecholaminergic polymorphic ventricular tachycardia and sudden cardiac death multi-gene panels. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 is RYR2 (ryanodine receptor 2 (cardiac)). Affiliated tissues include heart.

Description from OMIM:47 604772

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Classifications:

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Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

ventricular tachycardia, catecholaminergic polymorphic, 1 47


Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Graphical network of diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:



Diseases related to ventricular tachycardia, catecholaminergic polymorphic, 1

Symptoms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Symptoms by clinical synopsis from OMIM:

604772

Clinical features from OMIM:

604772

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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MalaCards organs/tissues related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

33
Heart

Animal Models for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 or affiliated genes

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Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

64 (show all 39)
id Symbol AA change Variation ID SNP ID
1RYR2p.Leu433ProVAR_011395
2RYR2p.Ser2246LeuVAR_011396
3RYR2p.Pro2328SerVAR_011397
4RYR2p.Asn2386IleVAR_011398
5RYR2p.Arg2474SerVAR_011399
6RYR2p.Asn4104LysVAR_011400
7RYR2p.Gln4201ArgVAR_011401
8RYR2p.Arg4497CysVAR_011402
9RYR2p.Val4653PheVAR_011403
10RYR2p.Val2306IleVAR_023694
11RYR2p.Pro4902LeuVAR_023695
12RYR2p.Arg4959GlnVAR_023696
13RYR2p.Pro164SerVAR_044086
14RYR2p.Arg176GlnVAR_044087
15RYR2p.Arg414LeuVAR_044088
16RYR2p.Ile419PheVAR_044089
17RYR2p.Arg420TrpVAR_044090rs190140598
18RYR2p.Glu2311AspVAR_044092
19RYR2p.Ala2387ProVAR_044093
20RYR2p.Tyr2392CysVAR_044094
21RYR2p.Ala2403ThrVAR_044095
22RYR2p.Thr2504MetVAR_044096
23RYR2p.Leu3778PheVAR_044097
24RYR2p.Gly3946SerVAR_044098
25RYR2p.Asn4097SerVAR_044099
26RYR2p.Glu4146LysVAR_044100
27RYR2p.Thr4158ProVAR_044101
28RYR2p.Phe4499CysVAR_044102
29RYR2p.Met4504IleVAR_044103
30RYR2p.Ala4510ThrVAR_044104
31RYR2p.Ala4607ProVAR_044105
32RYR2p.Gly4671ArgVAR_044106
33RYR2p.Val4771IleVAR_044107
34RYR2p.Ile4848ValVAR_044108
35RYR2p.Ala4860GlyVAR_044109
36RYR2p.Ile4867MetVAR_044110
37RYR2p.Val4880AlaVAR_044111
38RYR2p.Asn4895AspVAR_044112
39RYR2p.Glu4950LysVAR_044113

Clinvar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1RYR2NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu)single nucleotide variantPathogenicrs121918597GRCh37Chr 1, 237798237: 237798237
2RYR2NM_001035.2(RYR2): c.7422G> C (p.Arg2474Ser)single nucleotide variantPathogenicrs121918598GRCh37Chr 1, 237811823: 237811823
3RYR2NM_001035.2(RYR2): c.12312C> G (p.Asn4104Lys)single nucleotide variantPathogenicrs121918599GRCh37Chr 1, 237947324: 237947324
4RYR2NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys)single nucleotide variantPathogenicrs121918600GRCh37Chr 1, 237954741: 237954741
5RYR2NM_001035.2(RYR2): c.6982C> T (p.Pro2328Ser)single nucleotide variantPathogenicrs121918603GRCh37Chr 1, 237802368: 237802368
6RYR2NM_001035.2(RYR2): c.13957G> T (p.Val4653Phe)single nucleotide variantPathogenicrs121918604GRCh37Chr 1, 237961337: 237961337
7RYR2NM_001035.2(RYR2): c.12602A> G (p.Gln4201Arg)single nucleotide variantPathogenicrs121918605GRCh37Chr 1, 237947614: 237947614
8RYR2NM_001035.2(RYR2): c.14579C> G (p.Ala4860Gly)single nucleotide variantPathogenicrs121918606GRCh37Chr 1, 237982481: 237982481
9RYR2NM_001035.2: c.169-199_273+819del1123deletionPathogenicGRCh37Chr 1, 237493979: 237495101

Expression for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Pathways for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Compounds for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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GO Terms for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Products for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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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