INT121347

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Context Info
Confidence 0.13
First Reported 2004
Last Reported 2010
Negated 2
Speculated 3
Reported most in Body
Documents 8
Total Number 10
Disease Relevance 3.99
Pain Relevance 1.47

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 (GNAS) intracellular (GNAS) GTPase activity (GNAS)
transmembrane transport (GNAS) cytoplasm (GNAS) signal transducer activity (GNAS)
Anatomy Link Frequency
brain 1
GNAS (Homo sapiens)
Pain Link Frequency Relevance Heat
Inflammation 6 99.44 Very High Very High Very High
Migraine 90 98.92 Very High Very High Very High
alcohol 8 98.36 Very High Very High Very High
addiction 6 98.04 Very High Very High Very High
Hippocampus 23 84.32 Quite High
cerebral cortex 9 83.28 Quite High
amygdala 9 81.92 Quite High
opioid receptor 2 75.00 Quite High
antagonist 1 72.88 Quite High
Opioid 1 72.44 Quite High
Disease Link Frequency Relevance Heat
INFLAMMATION 7 99.44 Very High Very High Very High
Disease 19 98.96 Very High Very High Very High
Headache 84 98.92 Very High Very High Very High
Cleidocranial Dysplasia 27 98.54 Very High Very High Very High
Alcohol Addiction 6 98.36 Very High Very High Very High
Peripheral Arterial Disease 26 94.72 High High
Cadasil 18 92.24 High High
Congenital Anomalies 9 88.52 High High
Myxoma 1 86.56 High High
Cancer 5 83.36 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Fibrous dysplasia is a genetic disease caused by postzygotic, activating mutations of the GNAS gene, which impair the GTPase activity of Gs-alpha thus resulting in excess intracellular cAMP.
GNAS gene Neg (impair) Binding (impair) of associated with cleidocranial dysplasia and disease
1) Confidence 0.13 Published 2008 Journal Cases J Section Body Doc Link PMC2611982 Disease Relevance 1.56 Pain Relevance 0
Also worthy of note is the recent report of an association of the exon 4 C325G polymorphism with migraine in women in a large Spanish cohort [44].
exon Binding (association) of associated with migraine
2) Confidence 0.09 Published 2006 Journal BMC Med Genet Section Body Doc Link PMC1431511 Disease Relevance 0.18 Pain Relevance 0.18
Additionally, we believe further investigation of the exon 8 locus for a potential functional variant is clearly warranted, perhaps utilising allele specific gene expression methods.
exon Binding (investigation) of
3) Confidence 0.09 Published 2006 Journal BMC Med Genet Section Body Doc Link PMC1431511 Disease Relevance 0.22 Pain Relevance 0.22
Our study is the first to examine BDNF exon-specific mRNA levels across the whole human brain, thus adding important new data to BDNF expression in adult human brain.
exon Spec (examine) Binding (examine) of in brain
4) Confidence 0.05 Published 2007 Journal Genomics Section Body Doc Link PMC2568880 Disease Relevance 0 Pain Relevance 0.12
exon as determined by the 5?
exon Spec (determined) Binding (determined) of
5) Confidence 0.05 Published 2007 Journal Genomics Section Body Doc Link PMC2568880 Disease Relevance 0 Pain Relevance 0
Human BDNF exon VIIIh, which is not linked to a separate promoter, is also not present in rodent BDNF.
exon Neg (not) Binding (linked) of
6) Confidence 0.05 Published 2007 Journal Genomics Section Body Doc Link PMC2568880 Disease Relevance 0 Pain Relevance 0
All reports have found exon 4 to be the most common site of mutation and exon 3 to be the second most common site [7,8,18].
exon Binding (found) of
7) Confidence 0.02 Published 2007 Journal BMC Med Genet Section Body Doc Link PMC2190758 Disease Relevance 0.71 Pain Relevance 0.09
Development of an assay using 4-trifluoromethylumbelliferyl as a marker substrate for assessment of drug-drug interactions to multiple isoforms of UDP-glucuronosyltransferases.
isoforms Binding (interactions) of
8) Confidence 0.01 Published 2004 Journal Assay Drug Dev Technol Section Title Doc Link 15357915 Disease Relevance 0 Pain Relevance 0.06
In central Sweden, the functional variant 118G allele in exon 1 of OPRM1 is associated with an increased attributable risk for alcohol dependence.
exon Binding (associated) of associated with addiction and alcohol
9) Confidence 0.01 Published 2005 Journal Neuropsychopharmacology Section Abstract Doc Link 15525999 Disease Relevance 0.58 Pain Relevance 0.76
Several single-nucleotide polymorphisms (SNPs) of the human ICAM-1 gene have been reported, and functional analyses regarding the association between each polymorphism and certain diseases have been performed.10 Two ICAM-1, coding region, biallelic polymorphisms have been identified: Gly (G) or Arg (R) at codon 241 (exon 4) and Lys (K) or Glu (E) at codon 469 (exon 6).11 E469K is known to be common in all populations and has been analyzed for its association with several inflammatory diseases.12 Our aim was to evaluate the association between gene polymorphism of E-selectin and ICAM and PAOD in an Egyptian population.


exon Spec (analyzed) Binding (association) of associated with inflammation, peripheral arterial disease and disease
10) Confidence 0.01 Published 2010 Journal Vascular Health and Risk Management Section Body Doc Link PMC2828103 Disease Relevance 0.74 Pain Relevance 0.05

General Comments

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