INT210280

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Context Info
Confidence 0.35
First Reported 2007
Last Reported 2007
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 3
Disease Relevance 1.01
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.

nucleus (RAI1) cytoplasm (RAI1)
RAI1 (Homo sapiens)
Pain Link Frequency Relevance Heat
Pain 3 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Syndrome 138 100.00 Very High Very High Very High
Isochromosomes 3 56.60 Quite High
Congenital Anomalies 21 5.00 Very Low Very Low Very Low
Heart Rate Under Development 15 5.00 Very Low Very Low Very Low
Charcot Marie Tooth Disease 12 5.00 Very Low Very Low Very Low
Chromosome Aberrations 12 5.00 Very Low Very Low Very Low
Neuropathic Pain 9 5.00 Very Low Very Low Very Low
Lissencephaly 6 5.00 Very Low Very Low Very Low
Hypertelorism 6 5.00 Very Low Very Low Very Low
Chromosome Deletion 6 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
This resulted in the insertion of the MDLS region into the middle SMS-REP/LCR17pB block, loss of the subtelomeric region 17p13.3, and part of 17p12, and duplication of the CMT1A and SMS regions.
Negative_regulation (loss) of Gene_expression (duplication) of SMS associated with syndrome
1) Confidence 0.35 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.30 Pain Relevance 0
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 Gene_expression (insertion) of SMS associated with syndrome
2) Confidence 0.35 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.41 Pain Relevance 0
This resulted in the insertion of the MDLS region into the middle SMS-REP/LCR17pB block, loss of the subtelomeric region 17p13.3, and part of 17p12, and duplication of the CMT1A and SMS regions.
Negative_regulation (loss) of Gene_expression (duplication) of SMS associated with syndrome
3) Confidence 0.35 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.30 Pain Relevance 0

General Comments

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