INT207785

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Context Info
Confidence 0.06
First Reported 2007
Last Reported 2007
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 3
Disease Relevance 3.24
Pain Relevance 0.13

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

cytoplasm (RYR1, Ap3d1) protein transporter activity (Ap3d1) transport (Ap3d1)
vesicle-mediated transport (Ap3d1) Golgi apparatus (Ap3d1) plasma membrane (RYR1)
RYR1 (Homo sapiens)
Ap3d1 (Mus musculus)
Pain Link Frequency Relevance Heat
halothane 45 72.92 Quite High
anesthesia 69 55.48 Quite High
sodium channel 15 5.00 Very Low Very Low Very Low
Calcium channel 9 5.00 Very Low Very Low Very Low
Serotonin 6 5.00 Very Low Very Low Very Low
antagonist 6 5.00 Very Low Very Low Very Low
iatrogenic 6 5.00 Very Low Very Low Very Low
agonist 6 5.00 Very Low Very Low Very Low
ketamine 3 5.00 Very Low Very Low Very Low
cocaine 3 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Malignant Hyperthermia 507 100.00 Very High Very High Very High
Central Core Disease 66 97.20 Very High Very High Very High
Contracture 30 95.96 Very High Very High Very High
Muscle Weakness 9 81.28 Quite High
Muscle Hypotonia 6 80.12 Quite High
Muscle Disease 30 76.52 Quite High
Muscle Rigidity 54 69.44 Quite High
Rhabdomyolysis 42 61.64 Quite High
Emergencies 9 54.84 Quite High
Nemaline Myopathy 3 41.92 Quite Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Since then, about 50% of MH have been linked to RYR1 with over 100 mutations associated with MH, identified within this gene [41].
RYR1 Binding (associated) of MH associated with malignant hyperthermia
1) Confidence 0.06 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 0.52 Pain Relevance 0.04
Patients with MH may present with cores despite being clinically asymptomatic and with some RYR1 mutations (specifically some of those in the 3' transmembrane domain of the gene) specific to CCD.
RYR1 Binding (present) of MH associated with central core disease and malignant hyperthermia
2) Confidence 0.05 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 2.25 Pain Relevance 0.06
Since then, about 50% of MH have been linked to RYR1 with over 100 mutations associated with MH, identified within this gene [41].
RYR1 Binding (linked) of MH associated with malignant hyperthermia
3) Confidence 0.05 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1867813 Disease Relevance 0.46 Pain Relevance 0.04

General Comments

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