INT79034

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Context Info
Confidence 0.58
First Reported 1998
Last Reported 2009
Negated 0
Speculated 1
Reported most in Body
Documents 7
Total Number 8
Disease Relevance 3.94
Pain Relevance 0.66

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

isomerase activity (GPI) small molecule metabolic process (GPI) carbohydrate metabolic process (GPI)
cytoplasm (GPI) cytosol (GPI) extracellular space (GPI)
Anatomy Link Frequency
RBCs 1
GPI (Homo sapiens)
Pain Link Frequency Relevance Heat
anesthesia 4 99.16 Very High Very High Very High
Inflammation 4 90.88 High High
intrathecal 13 86.32 High High
Central nervous system 5 84.60 Quite High
Substantia nigra 1 65.20 Quite High
Thalamus 1 58.40 Quite High
cva 51 5.00 Very Low Very Low Very Low
Pain 16 5.00 Very Low Very Low Very Low
cytokine 9 5.00 Very Low Very Low Very Low
abdominal pain 6 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Hemolytic Anemia 29 99.80 Very High Very High Very High
Paroxysmal Nocturnal Hemoglobinuria 474 99.66 Very High Very High Very High
Focal Dystonia 11 99.16 Very High Very High Very High
Syndrome 13 99.00 Very High Very High Very High
Thrombosis 72 97.40 Very High Very High Very High
Lifespan 6 97.12 Very High Very High Very High
Convulsion 5 96.80 Very High Very High Very High
Hemolysis 165 95.20 Very High Very High Very High
Dystonia 28 94.40 High High
Communicable Diseases 3 91.80 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Glucose-6-phosphate isomerase (GPI) deficiency, an autosomal recessive genetic disorder with the typical manifestation of nonspherocytic haemolytic anaemia, can be associated in some cases with neurological impairment.
Negative_regulation (deficiency) of GPI associated with hemolytic anemia
1) Confidence 0.58 Published 1998 Journal Hum. Genet. Section Abstract Doc Link 9856489 Disease Relevance 0.17 Pain Relevance 0.11
Glucose-6-phosphate isomerase (GPI) deficiency, an autosomal recessive genetic disorder with the typical manifestation of nonspherocytic haemolytic anaemia, can be associated in some cases with neurological impairment.
Negative_regulation (deficiency) of Glucose-6-phosphate isomerase associated with hemolytic anemia
2) Confidence 0.58 Published 1998 Journal Hum. Genet. Section Abstract Doc Link 9856489 Disease Relevance 0.17 Pain Relevance 0.11
Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.
Negative_regulation (deficiency) of GPI associated with anesthesia and hemolytic anemia
3) Confidence 0.58 Published 1998 Journal Hum. Genet. Section Title Doc Link 9856489 Disease Relevance 0.19 Pain Relevance 0.14
Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.
Negative_regulation (deficiency) of glucose-6-phosphate isomerase associated with anesthesia and hemolytic anemia
4) Confidence 0.58 Published 1998 Journal Hum. Genet. Section Title Doc Link 9856489 Disease Relevance 0.19 Pain Relevance 0.14
Secondary Dystonia has been hypothesised as deriving from a reduced and disordered GPi output, with a pathological low frequency oscillation.


Negative_regulation (reduced) of GPi associated with focal dystonia
5) Confidence 0.05 Published 2009 Journal Ulster Med J Section Body Doc Link PMC2773587 Disease Relevance 0.71 Pain Relevance 0.10
GPI-AP deficiency on RBCs may be complete (PNH type III cells) or partial (PNH type II cells), resulting in different sensitivity to complement mediated lysis, as initially described by Rosse (Rosse and Dacie 1966; Rosse 1990).
Negative_regulation (deficiency) of GPI in RBCs associated with paroxysmal nocturnal hemoglobinuria
6) Confidence 0.03 Published 2008 Journal Biologics : Targets & Therapy Section Body Doc Link PMC2721357 Disease Relevance 1.23 Pain Relevance 0.05
As an exception, an autosomal recessive inherited GPI deficiency resulting from a mutation of the PIG-M gene has been recently described in two kindreds; however, the phenotype was clearly different from that of PNH, with a partial GPI deficiency resulting in a clinical syndrome characterized by propensity to thrombosis and seizures, in the absence of significant hemolysis (Almeida et al 2006; Almeida et al 2007).
Spec (partial) Negative_regulation (deficiency) of GPI associated with convulsion, syndrome, hemolysis, paroxysmal nocturnal hemoglobinuria and thrombosis
7) Confidence 0.03 Published 2008 Journal Biologics : Targets & Therapy Section Body Doc Link PMC2721357 Disease Relevance 0.64 Pain Relevance 0
As an exception, an autosomal recessive inherited GPI deficiency resulting from a mutation of the PIG-M gene has been recently described in two kindreds; however, the phenotype was clearly different from that of PNH, with a partial GPI deficiency resulting in a clinical syndrome characterized by propensity to thrombosis and seizures, in the absence of significant hemolysis (Almeida et al 2006; Almeida et al 2007).
Negative_regulation (deficiency) of GPI associated with convulsion, syndrome, hemolysis, paroxysmal nocturnal hemoglobinuria and thrombosis
8) Confidence 0.03 Published 2008 Journal Biologics : Targets & Therapy Section Body Doc Link PMC2721357 Disease Relevance 0.62 Pain Relevance 0

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