INT133089

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Context Info
Confidence 0.41
First Reported 2005
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 3
Total Number 3
Disease Relevance 0.72
Pain Relevance 0.64

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

signal transduction (MCC) plasma membrane (MCC) nucleus (MCC)
cytoplasm (MCC)
Anatomy Link Frequency
muscle 2
MCC (Homo sapiens)
MCC - L129F (1)
Pain Link Frequency Relevance Heat
Pain 11 99.36 Very High Very High Very High
imagery 5 5.00 Very Low Very Low Very Low
Congenital analgesia 1 5.00 Very Low Very Low Very Low
Demyelination 1 5.00 Very Low Very Low Very Low
Nerve growth factor 1 5.00 Very Low Very Low Very Low
Peripheral nervous system 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Myalgia 6 99.04 Very High Very High Very High
Targeted Disruption 1 80.40 Quite High
Disease 76 73.04 Quite High
Charcot Marie Tooth Disease 6 5.00 Very Low Very Low Very Low
Neurodegenerative Disease 4 5.00 Very Low Very Low Very Low
Pain 4 5.00 Very Low Very Low Very Low
Neurological Disease 2 5.00 Very Low Very Low Very Low
Syndrome 2 5.00 Very Low Very Low Very Low
Mouth Disease 2 5.00 Very Low Very Low Very Low
Ulcers 1 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
We present a patient with methylcrotonyl-CoA carboxylase (MCC) deficiency (McKusick 210200) who suffered from severe muscle pain and physical disability, and propose that this disorder be considered in the differential diagnosis of adult patients presenting with muscle pain and weakness.
Negative_regulation (deficiency) of MCC in muscle associated with pain and myalgia
1) Confidence 0.41 Published 2005 Journal J. Inherit. Metab. Dis. Section Abstract Doc Link 16435208 Disease Relevance 0.27 Pain Relevance 0.27
Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult.
Negative_regulation (deficiency) of MCC in muscle associated with pain and myalgia
2) Confidence 0.41 Published 2005 Journal J. Inherit. Metab. Dis. Section Title Doc Link 16435208 Disease Relevance 0.19 Pain Relevance 0.38
Indeed, we found that the apparent GTPase defect in the L129F mutant could be partially rescued by omitting excess unlabeled GTP from the reaction, whereas this modification had no effect on the Q67L mutant (Fig. 2C, right and D).
Negative_regulation (defect) of L129F mutant (L129F)
3) Confidence 0.01 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2830827 Disease Relevance 0.27 Pain Relevance 0

General Comments

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