INT283544

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Context Info
Confidence 0.01
First Reported 2009
Last Reported 2009
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 3
Disease Relevance 1.74
Pain Relevance 0

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

cytosol (GARS) mitochondrion (GARS) cell death (GARS)
endoplasmic reticulum (Bscl2) ligase activity (GARS) cytoplasm (GARS)
GARS (Homo sapiens)
Bscl2 (Mus musculus)
Pain Link Frequency Relevance Heat
Action potential 24 12.96 Low Low
carpal tunnel syndrome 6 5.00 Very Low Very Low Very Low
cytokine 3 5.00 Very Low Very Low Very Low
Glutamate receptor 3 5.00 Very Low Very Low Very Low
imagery 3 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Syndrome 15 99.68 Very High Very High Very High
Disease 39 90.24 High High
Muscle Weakness 24 84.16 Quite High
Death 3 78.16 Quite High
Injury 3 75.40 Quite High
Stress 3 72.40 Quite High
Foot Deformities 27 65.20 Quite High
Frailty 39 57.32 Quite High
Neuropathic Pain 24 54.24 Quite High
Shock 3 51.08 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
We combined the high-throughput SNP array (250K) technology with parametric linkage analysis and direct sequencing and identified a novel HMN locus on chromosome 16p segregating with a mutation in the BSCL2 gene previously associated with HMN/Silver syndrome.
HMN Binding (associated) of BSCL2 associated with syndrome
1) Confidence 0.01 Published 2009 Journal Neurogenetics Section Body Doc Link PMC2758216 Disease Relevance 0.45 Pain Relevance 0
In this family, one of the two reported mutations in exon 3 of the BSCL2/Seipin gene associated with HMN and Silver syndrome was identified in all 12 clinically affected individuals.
HMN Binding (associated) of Seipin associated with syndrome
2) Confidence 0.01 Published 2009 Journal Neurogenetics Section Body Doc Link PMC2758216 Disease Relevance 0.62 Pain Relevance 0
In this family, one of the two reported mutations in exon 3 of the BSCL2/Seipin gene associated with HMN and Silver syndrome was identified in all 12 clinically affected individuals.
HMN Binding (associated) of BSCL2 associated with syndrome
3) Confidence 0.01 Published 2009 Journal Neurogenetics Section Body Doc Link PMC2758216 Disease Relevance 0.67 Pain Relevance 0

General Comments

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