INT69478

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Context Info
Confidence 0.55
First Reported 1995
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 16
Total Number 16
Disease Relevance 7.90
Pain Relevance 0.59

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 (GBA) hydrolase activity, acting on glycosyl bonds (GBA) cell death (GBA)
carbohydrate metabolic process (GBA) lipid metabolic process (GBA)
Anatomy Link Frequency
nervous systems 2
organ systems 2
macrophages 1
liver 1
kidney 1
GBA (Homo sapiens)
Pain Link Frequency Relevance Heat
Paracetamol 5 99.06 Very High Very High Very High
Pain 29 83.16 Quite High
Central nervous system 20 76.32 Quite High
Angina 1 47.36 Quite Low
palliative 4 25.00 Low Low
chemokine 1 25.00 Low Low
depression 2 15.84 Low Low
withdrawal 1 12.32 Low Low
Inflammation 31 5.00 Very Low Very Low Very Low
peripheral neuropathy 15 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Gauchers Disease 367 99.88 Very High Very High Very High
Inborn Error Of Metabolism 1 99.84 Very High Very High Very High
Lysosome Storage Disease 10 99.60 Very High Very High Very High
Disease 183 99.58 Very High Very High Very High
Lysosomal Storage Diseases 9 99.16 Very High Very High Very High
Apoptosis 9 96.00 Very High Very High Very High
Schizophrenia 17 94.24 High High
Rare Diseases 1 92.88 High High
Dementia 3 92.68 High High
Hypertension 13 88.60 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Gaucher disease is the most common lysosomal storage disorder caused by deficiency of the lysosomal enzyme glucocerebrosidase.
Negative_regulation (deficiency) of lysosomal enzyme glucocerebrosidase associated with gauchers disease and lysosome storage disease
1) Confidence 0.55 Published 2008 Journal Orv Hetil Section Abstract Doc Link 18426721 Disease Relevance 0.79 Pain Relevance 0
Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency of the lysosomal enzyme beta-glucocerebrosidase.
Negative_regulation (deficiency) of beta-glucocerebrosidase associated with gauchers disease
2) Confidence 0.46 Published 2008 Journal Joint Bone Spine Section Abstract Doc Link 17996473 Disease Relevance 0.39 Pain Relevance 0
Alglucerase is a modified form of human placental glucocerebrosidase used as enzyme replacement therapy for patients with Gaucher's disease, in whom functional glucocerebrosidase is deficient.
Negative_regulation (deficient) of glucocerebrosidase associated with disease
3) Confidence 0.43 Published 1995 Journal Pharmacoeconomics Section Abstract Doc Link 10155294 Disease Relevance 0.43 Pain Relevance 0
Optimal therapy in Gaucher disease

Gaucher disease (GD), the inherited deficiency of the lysosomal enzyme glucocerebrosidase, presents with a wide range of symptoms of varying severity, and primarily affects the skeletal, hematologic and nervous systems.

Negative_regulation (deficiency) of glucocerebrosidase in nervous systems associated with gauchers disease
4) Confidence 0.43 Published 2010 Journal Therapeutics and Clinical Risk Management Section Title Doc Link PMC2909498 Disease Relevance 0.52 Pain Relevance 0
Gaucher disease, the deficiency of the lysosomal enzyme glucocerebrosidase: recombinant enzyme therapy
Negative_regulation (deficiency) of glucocerebrosidase associated with gauchers disease
5) Confidence 0.43 Published 2010 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2909498 Disease Relevance 0.90 Pain Relevance 0.17
Gaucher disease (GD), the inherited deficiency of the lysosomal enzyme glucocerebrosidase ([GC] enzyme commission number EC 3.2.1.45), presents with a wide range of symptoms of varying severity, and primarily affects the skeletal, hematologic and nervous systems.
Negative_regulation (deficiency) of glucocerebrosidase in nervous systems associated with gauchers disease
6) Confidence 0.43 Published 2010 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2909498 Disease Relevance 0.57 Pain Relevance 0.10
Gaucher's disease (GD) is the most frequently encountered lysosomal storage disease [1] caused by autosomal recessive inborn defects in the glucocerebrosidase gene (GBA) at the 1q21 chromosome [2,3].
Negative_regulation (defects) of glucocerebrosidase associated with lysosomal storage diseases and disease
7) Confidence 0.43 Published 2007 Journal Ann Gen Psychiatry Section Body Doc Link PMC2180174 Disease Relevance 0.85 Pain Relevance 0
Gaucher's disease is an autosomal recessive inherited defect of the lysosomal enzyme glucocerebrosidase, which leads to glucocerebroside accumulation in the reticuloendothelial system.
Negative_regulation (defect) of lysosomal enzyme glucocerebrosidase associated with disease
8) Confidence 0.41 Published 2001 Journal Clin. Genet. Section Abstract Doc Link 11359469 Disease Relevance 0.49 Pain Relevance 0
Glycyrrhizin (Ki = 470 and 570 microM), estradiol 3-glucuronide (Ki = 0.9 and 1.2 mM) and paracetamol glucuronide (Ki = 1.6 and 2 mM) were found to inhibit beta-Gluc activity competitively in liver and kidney, respectively.
Negative_regulation (inhibit) of beta-Gluc in liver associated with paracetamol
9) Confidence 0.36 Published 1997 Journal J. Pharmacol. Exp. Ther. Section Abstract Doc Link 9152401 Disease Relevance 0 Pain Relevance 0.10
Gaucher disease (GD), a rare autosomal-recessive disorder with an approximate prevalence of 1/75,000 live births worldwide, is due to the deficiency of a lysosomal enzyme (glucocerebrosidase, glucosylceramidase or ?
Negative_regulation (deficiency) of glucocerebrosidase associated with gauchers disease
10) Confidence 0.33 Published 2010 Journal Arthritis Res Ther Section Body Doc Link PMC2945057 Disease Relevance 0.35 Pain Relevance 0.03
Gaucher disease (GD), a rare autosomal-recessive disorder with an approximate prevalence of 1/75,000 live births worldwide, is due to the deficiency of a lysosomal enzyme (glucocerebrosidase, glucosylceramidase or ?
Negative_regulation (deficiency) of lysosomal enzyme associated with gauchers disease
11) Confidence 0.33 Published 2010 Journal Arthritis Res Ther Section Body Doc Link PMC2945057 Disease Relevance 0.34 Pain Relevance 0.03
Gaucher disease (GD), a rare autosomal-recessive disorder with an approximate prevalence of 1/75,000 live births worldwide, is due to the deficiency of a lysosomal enzyme (glucocerebrosidase, glucosylceramidase or ?
Negative_regulation (deficiency) of glucosylceramidase associated with gauchers disease
12) Confidence 0.29 Published 2010 Journal Arthritis Res Ther Section Body Doc Link PMC2945057 Disease Relevance 0.35 Pain Relevance 0.04
Philippe Gaucher in 1882, Gaucher disease is a lysosomal storage disorder that is caused by the deficiency of glucocerebrosidase, and is characterized by the accumulation of glycosylceramide that leads to dysfunction in multiple organ systems (Beutler and Grabowski 1995).
Negative_regulation (deficiency) of glucocerebrosidase in organ systems associated with gauchers disease and lysosome storage disease
13) Confidence 0.21 Published 2008 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2504062 Disease Relevance 0.79 Pain Relevance 0.03
Review of miglustat for clinical management in Gaucher disease type 1

Gaucher disease is a progressive lysosomal storage disorder caused by the deficiency of glucocerebrosidase, and characterized by intralysosomal storage of glucosylceramide that leads to dysfunction in multiple organ systems.

Negative_regulation (deficiency) of glucocerebrosidase in organ systems associated with gauchers disease and lysosome storage disease
14) Confidence 0.21 Published 2008 Journal Therapeutics and Clinical Risk Management Section Title Doc Link PMC2504062 Disease Relevance 0.38 Pain Relevance 0
Glycyrrhizin (Ki = 470 and 570 microM), estradiol 3-glucuronide (Ki = 0.9 and 1.2 mM) and paracetamol glucuronide (Ki = 1.6 and 2 mM) were found to inhibit beta-Gluc activity competitively in liver and kidney, respectively.
Negative_regulation (inhibit) of beta-Gluc in kidney associated with paracetamol
15) Confidence 0.12 Published 1997 Journal J. Pharmacol. Exp. Ther. Section Abstract Doc Link 9152401 Disease Relevance 0 Pain Relevance 0.10
Gaucher’s disease is an autosomally recessive inborn error of metabolism due to deficiency of a lysosomal enzyme, glucocerebrosidase (GBA), resulting in the accumulation of glucocerebroside in large macrophages throughout the reticuloendothelial system, leading to various neuronopathies.
Negative_regulation (deficiency) of glucocerebrosidase in macrophages associated with inborn error of metabolism and disease
16) Confidence 0.01 Published 2010 Journal Arch Toxicol Section Body Doc Link PMC2988997 Disease Relevance 0.75 Pain Relevance 0

General Comments

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