INT352882

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Context Info
Confidence 0.43
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Abstract
Documents 1
Total Number 1
Disease Relevance 0.67
Pain Relevance 0

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signal transduction (IKBKAP) nucleolus (IKBKAP) nucleus (IKBKAP)
protein complex assembly (IKBKAP) DNA binding (IKBKAP) cytoplasm (IKBKAP)
IKBKAP (Homo sapiens)
Pain Link Frequency Relevance Heat
Pain 1 5.00 Very Low Very Low Very Low
Potency 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Familial Dysautonomia 75 99.34 Very High Very High Very High
Congenital Anomalies 2 94.16 High High
Neuropathic Pain 2 92.60 High High
Cognitive Disorder 7 5.00 Very Low Very Low Very Low
Toxicity 5 5.00 Very Low Very Low Very Low
Dementia 4 5.00 Very Low Very Low Very Low
Attention Deficit Hyperactivity Disorder 2 5.00 Very Low Very Low Very Low
Disease 2 5.00 Very Low Very Low Very Low
Spinal Muscular Atrophy 1 5.00 Very Low Very Low Very Low
Adhesions 1 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The mutation observed in almost all FD patients is a point mutation at position 6 of intron 20 of the IKBKAP gene; this gene encodes the I?
Negative_regulation (position) of Regulation (intron) of IKBKAP associated with familial dysautonomia
1) Confidence 0.43 Published 2010 Journal PLoS ONE Section Abstract Doc Link PMC3012102 Disease Relevance 0.67 Pain Relevance 0

General Comments

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