INT265814

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Context Info
Confidence 0.75
First Reported 2008
Last Reported 2008
Negated 1
Speculated 0
Reported most in Body
Documents 1
Total Number 4
Disease Relevance 0.84
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 (Runx2) DNA binding (Runx2) transcription factor binding (Runx2)
cytoplasm (Runx2)
Runx2 (Mus musculus)
Pain Link Frequency Relevance Heat
Pain 8 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Cleidocranial Dysplasia 124 98.82 Very High Very High Very High
Heart Rate Under Development 4 88.36 High High
Syndrome 16 70.08 Quite High
Holoprosencephaly 8 66.32 Quite High
Osteoporosis 12 53.56 Quite High
Intellectual Impairment 8 24.08 Low Low
Contracture 4 21.16 Low Low
Flatfoot 4 15.24 Low Low
Kyphosis 4 13.12 Low Low
Contusions 4 9.88 Low Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Fosmid clones G248P86676H4, G248P8418A1, and G248P86565D3 located immediately upstream of the RUNX2 gene produced hybridization signal on the normal and derivative chromosome 6 only, suggesting that the entire coding sequence of RUNX2 including its promoter remained intact on the der(6) chromosome and was not translocated (Fig. 4b).
Localization (located) of RUNX2
1) Confidence 0.75 Published 2008 Journal American Journal of Medical Genetics. Part a Section Body Doc Link PMC2663417 Disease Relevance 0.13 Pain Relevance 0
Given the facts that the patient had a CCD phenotype and that the translocation involved the genomic location of RUNX2, we performed FISH analysis with three probes spanning the RUNX2 locus.
Localization (location) of RUNX2 associated with cleidocranial dysplasia
2) Confidence 0.75 Published 2008 Journal American Journal of Medical Genetics. Part a Section Body Doc Link PMC2663417 Disease Relevance 0.33 Pain Relevance 0
Fosmid clones G248P86676H4, G248P8418A1, and G248P86565D3 located immediately upstream of the RUNX2 gene produced hybridization signal on the normal and derivative chromosome 6 only, suggesting that the entire coding sequence of RUNX2 including its promoter remained intact on the der(6) chromosome and was not translocated (Fig. 4b).
Neg (not) Localization (translocated) of RUNX2
3) Confidence 0.70 Published 2008 Journal American Journal of Medical Genetics. Part a Section Body Doc Link PMC2663417 Disease Relevance 0.11 Pain Relevance 0
The translocation of the RUNX2 gene on 6p to chromosome 21 in our patient may have disrupted a 5?
Localization (translocation) of RUNX2
4) Confidence 0.70 Published 2008 Journal American Journal of Medical Genetics. Part a Section Body Doc Link PMC2663417 Disease Relevance 0.27 Pain Relevance 0

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