INT207781

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Context Info
Confidence 0.63
First Reported 2007
Last Reported 2010
Negated 1
Speculated 0
Reported most in Body
Documents 3
Total Number 3
Disease Relevance 0.90
Pain Relevance 0.03

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 (CACNA1S) transmembrane transport (CACNA1S) cytoplasm (CACNA1S)
Anatomy Link Frequency
muscle fibers 1
oocytes 1
CACNA1S (Homo sapiens)
Pain Link Frequency Relevance Heat
Versed 1 54.16 Quite High
sodium channel 30 24.12 Low Low
anesthesia 23 23.68 Low Low
iatrogenic 2 18.00 Low Low
addiction 33 5.00 Very Low Very Low Very Low
halothane 15 5.00 Very Low Very Low Very Low
Action potential 15 5.00 Very Low Very Low Very Low
Calcium channel 4 5.00 Very Low Very Low Very Low
potassium channel 3 5.00 Very Low Very Low Very Low
antagonist 3 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Malignant Hyperthermia 169 94.88 High High
Congenital Anomalies 5 93.24 High High
Bartter Syndrome 6 78.60 Quite High
Hyperkalemia 22 65.08 Quite High
Hypokalemic Periodic Paralysis 10 63.60 Quite High
Muscle Disease 17 61.32 Quite High
Hypopituitarism 35 60.40 Quite High
Disease 20 56.32 Quite High
Paralysis 11 50.00 Quite Low
Channelopathies 8 50.00 Quite Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
As lymphoblastoid cell lines do not express the dihydropyridine receptor, they could also effectively be used to functionally test RYR1 mutations as well as to eliminate RYR1 as a causative factor in MH individuals who do not show linkage to RYR1.
Neg (not) Gene_expression (express) of dihydropyridine receptor associated with malignant hyperthermia
1) Confidence 0.63 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 0.24 Pain Relevance 0.03
By expressing HypoPP mutations in Xenopus oocytes, Sokolov et al. [45] and Cannon et al. [47] discovered a cation leak with the typical characteristics found for the ?
Gene_expression (expressing) of HypoPP in oocytes
2) Confidence 0.19 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883924 Disease Relevance 0.43 Pain Relevance 0
The notion that HypoPP muscle is abnormally burdened by a high internal Na+ concentration is supported by findings of abnormally raised intracellular Na+ levels in biopsied HypoPP muscle fibers (Engel et al., 1965) and in MRI spectroscopy of human patients (Weber et al., 2006), although these observations have not been replicated elsewhere (Niall and Pak, 1966).
Gene_expression (muscle) of HypoPP in muscle fibers
3) Confidence 0.18 Published 2008 Journal The Journal of General Physiology Section Body Doc Link PMC2553391 Disease Relevance 0.23 Pain Relevance 0

General Comments

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