INT199648

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Context Info
Confidence 0.29
First Reported 2006
Last Reported 2006
Negated 0
Speculated 2
Reported most in Body
Documents 1
Total Number 3
Disease Relevance 2.14
Pain Relevance 0.04

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

cytosol (Fxn) transport (Fxn) mitochondrion (Fxn)
oxidoreductase activity (Fxn) mitochondrion organization (Fxn) enzyme binding (Fxn)
Fxn (Mus musculus)
Pain Link Frequency Relevance Heat
Action potential 6 81.88 Quite High
Spinal cord 15 33.36 Quite Low
cerebral cortex 3 14.60 Low Low
imagery 21 5.00 Very Low Very Low Very Low
Sicca syndrome 18 5.00 Very Low Very Low Very Low
Bile 6 5.00 Very Low Very Low Very Low
peripheral neuropathy 6 5.00 Very Low Very Low Very Low
medulla 6 5.00 Very Low Very Low Very Low
palliative 3 5.00 Very Low Very Low Very Low
midbrain 3 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Friedreich Ataxia 159 100.00 Very High Very High Very High
Disease 93 98.88 Very High Very High Very High
Impaired Glucose Tolerance 6 95.56 Very High Very High Very High
Diabetes Mellitus 6 94.64 High High
Deafness 12 93.72 High High
Optic Atrophy 3 93.32 High High
Ocular Toxicity (including Many Sub-types) 27 92.72 High High
Foot Deformities 9 92.28 High High
Hypertrophic Cardiomyopathy 6 91.20 High High
Arrhythmias 2 Under Development 3 89.00 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
However, some of these amino acid changes may affect a relevant residue in the function of frataxin: one substitution involved G130 (a residue also preserved in most of the analysed species); D122 is one of the surface sites of the acidic patch, which may be important in a putative protein-protein interaction of frataxin.
Spec (may) Regulation (affect) of frataxin
1) Confidence 0.29 Published 2006 Journal Orphanet J Rare Dis Section Body Doc Link PMC1664553 Disease Relevance 0.05 Pain Relevance 0
The isolation of the FRDA gene and description of the GAA trinucleotide expansion as the main mutation have allowed to define the clinical picture and the phenotypic variability based on biological markers [78-80] (Table 2).
Regulation (isolation) of FRDA associated with friedreich ataxia
2) Confidence 0.29 Published 2006 Journal Orphanet J Rare Dis Section Body Doc Link PMC1664553 Disease Relevance 1.88 Pain Relevance 0.04
Experiments in cell systems, especially in the yeast Saccharomyces cerevisiae, have provided relevant information about the possible function of frataxin in mitochondria and its role in the pathogenesis of the disease.
Spec (possible) Regulation (role) of frataxin associated with disease
3) Confidence 0.25 Published 2006 Journal Orphanet J Rare Dis Section Body Doc Link PMC1664553 Disease Relevance 0.21 Pain Relevance 0

General Comments

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