INT192016

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Context Info
Confidence 0.25
First Reported 2006
Last Reported 2008
Negated 0
Speculated 0
Reported most in Body
Documents 5
Total Number 5
Disease Relevance 4.18
Pain Relevance 0.05

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

plasma membrane (RYR2) transmembrane transport (RYR2)
Anatomy Link Frequency
reticulum 1
RYR2 (Homo sapiens)
Pain Link Frequency Relevance Heat
imagery 28 52.08 Quite High
Inflammation 8 50.96 Quite High
Catecholamine 4 34.56 Quite Low
sodium channel 7 5.00 Very Low Very Low Very Low
palliative 4 5.00 Very Low Very Low Very Low
Angina 4 5.00 Very Low Very Low Very Low
Action potential 4 5.00 Very Low Very Low Very Low
fibrosis 3 5.00 Very Low Very Low Very Low
potassium channel 3 5.00 Very Low Very Low Very Low
beta blocker 3 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Arrhythmogenic Right Ventricular Dysplasia 148 100.00 Very High Very High Very High
Ventricular Tachycardia 14 98.92 Very High Very High Very High
Disease 114 97.72 Very High Very High Very High
Sudden Death 34 91.28 High High
Heart Rate Under Development 64 90.72 High High
Cardiomyopathy 18 90.04 High High
Malignant Neoplastic Disease 5 89.52 High High
Muscle Disease 7 88.72 High High
Congenital Anomalies 21 79.68 Quite High
Dilated Cardiomyopathy 4 75.80 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The presence of mutations in the regulatory regions of ITGA8 and FRMD4A genes, as has been reported in the case of ARVC1 and the TGF?
Localization (case) of ARVC1
1) Confidence 0.25 Published 2006 Journal BMC Med Genet Section Body Doc Link PMC1444927 Disease Relevance 0.27 Pain Relevance 0
We report on the linkage analysis in a South African family with ARVC, which provided support for previous chromosomal localization of ARVC6, the narrowing of the critical region, and exclusion of disease-causing mutations in the coding regions of two positional and one non-positional candidate genes.


Localization (localization) of ARVC6 associated with disease and arrhythmogenic right ventricular dysplasia
2) Confidence 0.24 Published 2006 Journal BMC Med Genet Section Body Doc Link PMC1444927 Disease Relevance 0.57 Pain Relevance 0.03
We report a South African family with ARVC segregating as an autosomal dominant trait for which we obtained lod scores highly suggestive of linkage to the ARVC6 locus on chromosome 10p12-p14 [27].
Localization (segregating) of ARVC associated with arrhythmogenic right ventricular dysplasia
3) Confidence 0.22 Published 2006 Journal BMC Med Genet Section Body Doc Link PMC1444927 Disease Relevance 0.58 Pain Relevance 0
One is the gene encoding for the cardiac ryanodine receptor 2, which is located in the smooth sarcoplasmic reticulum and mediates calcium release for electroanatomical coupling (ARVD2 with polymorphic ventricular arrhythmias) [32].
Localization (release) of ARVD2 in reticulum
4) Confidence 0.22 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2222049 Disease Relevance 0.98 Pain Relevance 0
Tiso et al suggested that ARVD2 associated mutations increase RYR2 mediated calcium release to the cytoplasm where as CPVT associated mutations do not significantly affect cytosolic calcium levels.
Localization (release) of RYR2 associated with ventricular tachycardia
5) Confidence 0.18 Published 2008 Journal Indian Pacing and Electrophysiology Journal Section Body Doc Link PMC2363724 Disease Relevance 1.78 Pain Relevance 0.03

General Comments

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