INT235132

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Context Info
Confidence 0.55
First Reported 2005
Last Reported 2005
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 3
Disease Relevance 2.31
Pain Relevance 0.11

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

cytosol (Ppp2r2b) signal transduction (Ppp2r2b) mitochondrion (Ppp2r2b)
cytoskeleton (Ppp2r2b) cytoplasm (Ppp2r2b)
Anatomy Link Frequency
brain 1
Ppp2r2b (Mus musculus)
Pain Link Frequency Relevance Heat
Calcium channel 15 80.32 Quite High
Migraine 3 68.08 Quite High
Kinase C 3 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Ataxia 99 100.00 Very High Very High Very High
Disease 84 87.40 High High
Cerebellar Ataxia 9 80.80 Quite High
Spinocerebellar Ataxia Type 2 51 77.48 Quite High
Migraine With Aura 3 69.68 Quite High
Ocular Toxicity (including Many Sub-types) 6 65.16 Quite High
Ophthalmoplegia 3 62.64 Quite High
Tremor 3 51.36 Quite High
Dysarthria 3 50.04 Quite High
Movement Disorders 3 45.76 Quite Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
SCA12 is caused by a CAG repeat expansion that is not transcribed to polyglutamine and is speculated to affect the expression of the gene PPP2R2B, which encodes a brain-specific regulatory subunit of protein phosphatase PP2A (Holmes et al 1999).
Gene_expression (expression) of PPP2R2B in brain
1) Confidence 0.55 Published 2005 Journal Neuropsychiatric Disease and Treatment Section Body Doc Link PMC2413192 Disease Relevance 0.48 Pain Relevance 0.11
Some types of ataxias show a partly different molecular background (eg, SCA8, SCA10, SCA12, and some forms of SCA6), since they involve repeats (not necessarily CAG) that are not translated, or they do not involve repeats at all.
Gene_expression (forms) of SCA12 associated with ataxia
2) Confidence 0.48 Published 2005 Journal Neuropsychiatric Disease and Treatment Section Body Doc Link PMC2413192 Disease Relevance 0.73 Pain Relevance 0
The source of the mutation in many genetic subtypes of ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, and SCA17) is the same (CAG repeat expansion), and the resulting protein product contains a long polyglutamine domain.
Gene_expression (source) of SCA12 associated with ataxia
3) Confidence 0.43 Published 2005 Journal Neuropsychiatric Disease and Treatment Section Body Doc Link PMC2413192 Disease Relevance 1.11 Pain Relevance 0

General Comments

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