INT166325

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Context Info
Confidence 0.36
First Reported 2007
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 2
Total Number 6
Disease Relevance 2.74
Pain Relevance 0.13

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

nucleus (RAI1) cytoplasm (RAI1)
Anatomy Link Frequency
proximal 1
RAI1 (Homo sapiens)
Pain Link Frequency Relevance Heat
Pain 6 99.96 Very High Very High Very High
depression 3 57.36 Quite High
Disease Link Frequency Relevance Heat
Syndrome 235 100.00 Very High Very High Very High
Language Development Disorders 1 100.00 Very High Very High Very High
Pain 1 99.96 Very High Very High Very High
Attention Deficit Hyperactivity Disorder 1 98.44 Very High Very High Very High
Injury 1 96.76 Very High Very High Very High
Isochromosomes 5 73.76 Quite High
Anxiety Disorder 4 58.32 Quite High
Heart Rate Under Development 25 57.36 Quite High
Depression 3 57.36 Quite High
Chromosome Deletion 10 20.40 Low Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
An apparent underestimation of the full complexity of CCRs is well demonstrated in patient 1, in whom a complex karyotype was identified, including an inverted insertion of the MDLS region into the middle SMS-REP/LCR17pB block, two microdeletions (terminal and interstitial in 17p12) and a microduplication involving both SMS and CMT1A chromosome regions.
Negative_regulation (block) of SMS associated with syndrome
1) Confidence 0.36 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.41 Pain Relevance 0
In patient 1, one breakpoint is located within the middle SMS-REP/LCR17pB block, whereas in patient 2 breakpoints are located within LCR17pA (proximal Dup III), middle SMS-REP (distal Dup IV) and LCR17pC (proximal Dup IV).
Negative_regulation (block) of SMS in proximal associated with syndrome
2) Confidence 0.36 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.57 Pain Relevance 0
This is well demonstrated by the apparently balanced inverted insertion of the MDLS region into the middle SMS-REP/LCR17pB block in patient 1, which would have escaped attention if array CGH would have been the only technique employed.
Negative_regulation (block) of SMS associated with syndrome
3) Confidence 0.36 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.39 Pain Relevance 0
This resulted in the insertion of the MDLS region into the middle SMS-REP/LCR17pB block, loss of telomeric 17p and part of 17p12 and duplication of the CMT1A region.
Negative_regulation (loss) of SMS associated with syndrome
4) Confidence 0.35 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.25 Pain Relevance 0
This resulted in the insertion of the MDLS region into the middle SMS-REP/LCR17pB block, loss of telomeric 17p and part of 17p12 and duplication of the CMT1A region.
Negative_regulation (block) of SMS associated with syndrome
5) Confidence 0.35 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.25 Pain Relevance 0
Smith-Magenis syndrome (SMS) is a complex disorder characterized by numerous challenges, including intellectual disability, speech delay, decreased pain sensitivity, sleep disturbances, hyperactivity, mood instability, and self-injury.
Negative_regulation (decreased) of SMS associated with pain, syndrome, injury, attention deficit hyperactivity disorder and language development disorders
6) Confidence 0.22 Published 2010 Journal J Genet Couns Section Abstract Doc Link 20151318 Disease Relevance 0.86 Pain Relevance 0.13

General Comments

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