INT248468

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Context Info
Confidence 0.39
First Reported 2008
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 6
Total Number 7
Disease Relevance 5.55
Pain Relevance 0.25

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

mRNA processing (Smn1) nucleolus (Smn1) RNA binding (Smn1)
nucleus (Smn1) cytoplasm (Smn1)
Anatomy Link Frequency
Spinal 3
motor neuron 2
Smn1 (Mus musculus)
Pain Link Frequency Relevance Heat
carbamazepine 8 84.56 Quite High
fibrosis 7 74.36 Quite High
Bioavailability 2 66.88 Quite High
Central nervous system 8 57.28 Quite High
palliative 2 42.48 Quite Low
depression 18 5.00 Very Low Very Low Very Low
antiepileptic Drug 14 5.00 Very Low Very Low Very Low
Spinal cord 12 5.00 Very Low Very Low Very Low
Lamotrigine 12 5.00 Very Low Very Low Very Low
gABA 12 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Spinal Muscular Atrophy 186 99.70 Very High Very High Very High
Neurodegenerative Disease 5 99.40 Very High Very High Very High
Death 29 98.08 Very High Very High Very High
Neurological Disease 12 94.56 High High
Disease 76 93.64 High High
Coma 4 93.40 High High
Heart Rate Under Development 2 92.88 High High
Frailty 7 79.60 Quite High
Epidermolysis Bullosa Simplex 3 78.64 Quite High
Coagulation Disorder 9 76.32 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Spinal muscular atrophy (SMA) is caused by loss of SMN1.
Negative_regulation (loss) of SMN1 in Spinal associated with spinal muscular atrophy
1) Confidence 0.39 Published 2008 Journal PLoS ONE Section Abstract Doc Link PMC2565107 Disease Relevance 0.31 Pain Relevance 0.03
Spinal Muscular Atrophy (SMA), a neurodegenerative disorder, is caused by the homozygous loss of survival motor neuron 1 (SMN1) and is the leading genetic cause of infantile death [8], [9].
Negative_regulation (loss) of motor neuron 1 in motor neuron associated with neurodegenerative disease, death and spinal muscular atrophy
2) Confidence 0.39 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2565107 Disease Relevance 1.18 Pain Relevance 0.04
Spinal Muscular Atrophy (SMA), a neurodegenerative disorder, is caused by the homozygous loss of survival motor neuron 1 (SMN1) and is the leading genetic cause of infantile death [8], [9].
Negative_regulation (loss) of SMN1 in motor neuron associated with neurodegenerative disease, death and spinal muscular atrophy
3) Confidence 0.39 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2565107 Disease Relevance 1.18 Pain Relevance 0.04
Based on the result of a previous large study conducted on 525 typical SMA patients that the homozygous absence of SMN1 was identified in 92%, point mutations in 3.4%, and no mutation in 4.6%1), it is possible that the patients had a point mutation although rare or developed a disease in a different gene that is not linked to chromosome 5q13.
Negative_regulation (absence) of SMN1 associated with disease and spinal muscular atrophy
4) Confidence 0.28 Published 2010 Journal Korean Journal of Pediatrics Section Body Doc Link PMC3012277 Disease Relevance 0.50 Pain Relevance 0
It is an autosomal recessive disorder caused by homozygous deletion of exon 7 of the survival motor neuron1 (SMN1) gene located in chromosome 5q131, 2).
Negative_regulation (deletion) of SMN1
5) Confidence 0.28 Published 2010 Journal Korean Journal of Pediatrics Section Body Doc Link PMC3012277 Disease Relevance 0.67 Pain Relevance 0
Spinal muscular atrophy (SMA) is caused by the homozygous loss of the SMN1 gene (survival motor neuron protein).
Negative_regulation (loss) of SMN1 gene in Spinal associated with spinal muscular atrophy
6) Confidence 0.05 Published 2010 Journal Journal of Biomedicine and Biotechnology Section Body Doc Link PMC2926634 Disease Relevance 0.84 Pain Relevance 0.08
Spinal muscular atrophy (SMA) is caused by the homozygous loss of the SMN1 gene (survival motor neuron protein).
Negative_regulation (loss) of neuron protein in Spinal associated with spinal muscular atrophy
7) Confidence 0.05 Published 2010 Journal Journal of Biomedicine and Biotechnology Section Body Doc Link PMC2926634 Disease Relevance 0.85 Pain Relevance 0.08

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