INT243226

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Context Info
Confidence 0.70
First Reported 2008
Last Reported 2010
Negated 1
Speculated 0
Reported most in Body
Documents 3
Total Number 7
Disease Relevance 5.60
Pain Relevance 0.31

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

extracellular region (Rs1) cell adhesion (Rs1)
Anatomy Link Frequency
retina 1
Rs1 (Mus musculus)
Pain Link Frequency Relevance Heat
cva 32 96.20 Very High Very High Very High
anesthesia 7 72.04 Quite High
Disease Link Frequency Relevance Heat
Retinoschisis 253 100.00 Very High Very High Very High
Disease 85 99.48 Very High Very High Very High
Glaucoma 7 98.04 Very High Very High Very High
Ocular Hypertension 5 97.48 Very High Very High Very High
Retina Disease 12 97.00 Very High Very High Very High
Ocular Injury 32 96.20 Very High Very High Very High
Age-related Macular Degeneration 9 90.12 High High
Frailty 9 87.36 High High
Cv Unclassified Under Development 5 86.56 High High
Ocular Toxicity (including Many Sub-types) 19 80.32 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The dysfunctional, defective RS1 protein is probably accumulated both extracellularly and intracellularly, eventually leading to cystic-like spaces and schisis formation in several different layers of the retina [7,17].
Positive_regulation (accumulated) of RS1 protein in retina
1) Confidence 0.70 Published 2008 Journal Molecular Vision Section Body Doc Link PMC2519029 Disease Relevance 0.32 Pain Relevance 0
All exons of the RS1 gene were screened for mutation detection in the family.
Positive_regulation (screened) of RS1
2) Confidence 0.48 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2927431 Disease Relevance 0.56 Pain Relevance 0.11
The RS1 gene that causes XLRS (localization: Xp22.2, GenBank AF014459) was identified in 1997 by positional cloning [1].
Positive_regulation (causes) of XLRS associated with retinoschisis
3) Confidence 0.44 Published 2008 Journal Molecular Vision Section Body Doc Link PMC2519029 Disease Relevance 1.18 Pain Relevance 0.04
Comparison of our findings with these previously reported patients of other ethnicities, together with the clinical findings within the reported Chinese family in the current study, suggest that there is no simple phenotype–genotype correlation and that disease severity is not mutation dependent in XLRS.
Neg (not) Positive_regulation (dependent) of XLRS associated with disease and retinoschisis
4) Confidence 0.42 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2927431 Disease Relevance 1.05 Pain Relevance 0.06
The purpose of this study was to report the clinical findings of the family and to identify the genetic mutation by screening the retinoschisis 1 (RS1) gene.


Positive_regulation (screening) of retinoschisis 1 associated with retinoschisis
5) Confidence 0.39 Published 2010 Journal Molecular Vision Section Abstract Doc Link PMC2927431 Disease Relevance 0.46 Pain Relevance 0.03
The purpose of this study was to report the clinical findings of the family and to identify the genetic mutation by screening the retinoschisis 1 (RS1) gene.


Positive_regulation (screening) of RS1 associated with retinoschisis
6) Confidence 0.39 Published 2010 Journal Molecular Vision Section Abstract Doc Link PMC2927431 Disease Relevance 0.47 Pain Relevance 0.03
XLRS is caused by mutations in the retinoschisis 1 (RS1) gene localized at chromosome Xp22.2 [6].
Positive_regulation (caused) of XLRS associated with retinoschisis
7) Confidence 0.39 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2927431 Disease Relevance 1.56 Pain Relevance 0.05

General Comments

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