INT199651

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Context Info
Confidence 0.30
First Reported 2006
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 3
Total Number 3
Disease Relevance 1.45
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.

cytosol (Fxn) transport (Fxn) mitochondrion (Fxn)
oxidoreductase activity (Fxn) mitochondrion organization (Fxn) enzyme binding (Fxn)
Anatomy Link Frequency
respiratory 1
Fxn (Mus musculus)
Pain Link Frequency Relevance Heat
Bioavailability 2 68.72 Quite High
imagery 14 5.00 Very Low Very Low Very Low
Sicca syndrome 12 5.00 Very Low Very Low Very Low
Spinal cord 10 5.00 Very Low Very Low Very Low
peripheral neuropathy 4 5.00 Very Low Very Low Very Low
medulla 4 5.00 Very Low Very Low Very Low
Bile 4 5.00 Very Low Very Low Very Low
Action potential 4 5.00 Very Low Very Low Very Low
cerebral cortex 2 5.00 Very Low Very Low Very Low
midbrain 2 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Ataxia 260 100.00 Very High Very High Very High
Friedreich Ataxia 106 97.92 Very High Very High Very High
Disease 77 94.96 High High
Death 5 85.36 High High
Porphyria 1 82.00 Quite High
Targeted Disruption 13 72.64 Quite High
Stress 25 67.68 Quite High
Cardiovascular Disease 1 50.52 Quite High
Neurodegenerative Disease 6 49.44 Quite Low
Apoptosis 6 41.08 Quite Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
While our work with both FRDA patient cohorts did not show the heme pathway as significantly repressed, the downregulated mitochondrial pathways we did observe are easily affected by, or could contribute to, heme deficiency.
FRDA Binding (work) of associated with ataxia
1) Confidence 0.30 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2799513 Disease Relevance 0.59 Pain Relevance 0
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.
frataxin Binding (interaction) of
2) Confidence 0.23 Published 2006 Journal Orphanet J Rare Dis Section Body Doc Link PMC1664553 Disease Relevance 0.06 Pain Relevance 0
Further experiments showing direct participation of frataxin in the respiratory chain (by interaction with protein of complex II) suggested FRDA as an oxidative phosphorylation (OXPHOS) disease [141,142].
frataxin Binding (participation) of in respiratory associated with friedreich ataxia and disease
3) Confidence 0.20 Published 2006 Journal Orphanet J Rare Dis Section Body Doc Link PMC1664553 Disease Relevance 0.80 Pain Relevance 0.03

General Comments

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