INT189813

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Context Info
Confidence 0.57
First Reported 2006
Last Reported 2010
Negated 1
Speculated 0
Reported most in Body
Documents 4
Total Number 4
Disease Relevance 3.07
Pain Relevance 0.55

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

small molecule metabolic process (CACNA1A) cell death (CACNA1A) plasma membrane (CACNA1A)
nucleus (CACNA1A) transmembrane transport (CACNA1A) cytoplasm (CACNA1A)
Anatomy Link Frequency
HeLa 1
cerebellum 1
CACNA1A (Homo sapiens)
Pain Link Frequency Relevance Heat
Migraine 3 100.00 Very High Very High Very High
Lamotrigine 1 99.20 Very High Very High Very High
Neuropeptide 2 95.32 Very High Very High Very High
Neurotransmitter 14 94.60 High High
Mexiletine 1 92.32 High High
Calcium channel 22 81.16 Quite High
carbamazepine 1 77.12 Quite High
Thalamotomy 1 62.00 Quite High
agonist 5 34.40 Quite Low
Dopamine 14 34.04 Quite Low
Disease Link Frequency Relevance Heat
Ataxia 77 100.00 Very High Very High Very High
Spinocerebellar Ataxia Type 2 14 100.00 Very High Very High Very High
Cerebellar Diseases 13 100.00 Very High Very High Very High
Repression 6 100.00 Very High Very High Very High
Headache 5 100.00 Very High Very High Very High
Epilepsy 3 100.00 Very High Very High Very High
Machado-joseph Disease 4 99.96 Very High Very High Very High
Cramps 1 99.84 Very High Very High Very High
Toxicity 4 99.44 Very High Very High Very High
Motor Neuron Diseases 11 93.72 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Testing in some patients has excluded a few of the heredofamilial disorders that might have a similar phenotype, namely SCA3, SCA 6 and hexosaminidase A deficiency.
Negative_regulation (deficiency) of SCA 6 associated with machado-joseph disease and spinocerebellar ataxia type 2
1) Confidence 0.57 Published 2006 Journal BMC Neurol Section Body Doc Link PMC1351204 Disease Relevance 1.18 Pain Relevance 0
Virally mediated overexpression of a dominant-negative REST construct resulted in 75-fold de-repression of CACNA1A mRNA levels in HeLa cells (Figure 4A), indicating that REST is capable of strongly repressing this gene.
Negative_regulation (repression) of CACNA1A in HeLa associated with repression
2) Confidence 0.36 Published 2006 Journal Nucleic Acids Research Section Body Doc Link PMC1557810 Disease Relevance 0.10 Pain Relevance 0.07
The CACNA1A gene encoding Cav2.1 is highly expressed in the Purkinje cells of the cerebellum (32) and mutations in CACNA1A are responsible for a number of cerebellar disorders including migraine (33), epilepsy (34) and ataxias (35) but little is known about the transcriptional regulation of this gene.
Neg (little) Negative_regulation (known) of CACNA1A in cerebellum associated with epilepsy, cerebellar diseases, ataxia and migraine
3) Confidence 0.35 Published 2006 Journal Nucleic Acids Research Section Body Doc Link PMC1557810 Disease Relevance 0.40 Pain Relevance 0.31
Acetazolamide may decrease the ataxic symptoms in SCA6.
Negative_regulation (decrease) of SCA6
4) Confidence 0.12 Published 2010 Journal Current Neuropharmacology Section Body Doc Link PMC2866461 Disease Relevance 1.39 Pain Relevance 0.17

General Comments

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