INT32508

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Context Info
Confidence 0.47
First Reported 1987
Last Reported 2009
Negated 0
Speculated 0
Reported most in Abstract
Documents 2
Total Number 2
Disease Relevance 0.67
Pain Relevance 0.23

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

endosome (Npc1) nuclear envelope (Npc1) Golgi apparatus (Npc1)
endoplasmic reticulum (Npc1) plasma membrane (Npc1) lysosome (Npc1)
Anatomy Link Frequency
fibroblasts 2
Npc1 (Mus musculus)
Pain Link Frequency Relevance Heat
alcohol 1 80.80 Quite High
Enkephalin 2 76.56 Quite High
antidepressant 1 74.80 Quite High
imagery 3 5.00 Very Low Very Low Very Low
depression 1 5.00 Very Low Very Low Very Low
headache 1 5.00 Very Low Very Low Very Low
Bioavailability 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Disease 34 78.48 Quite High
Convulsion 2 75.60 Quite High
Sleep Disorders 2 72.16 Quite High
Tremor 2 68.80 Quite High
Dystonia 2 67.92 Quite High
Neurologic Manifestations 13 58.76 Quite High
Hepatotoxicity 2 51.76 Quite High
Dysphagia 2 47.04 Quite Low
Congenital Anomalies 1 27.08 Quite Low
Death 4 13.56 Low Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
A clinical diagnosis of NP-C requires in-depth screening for characteristic neurological (as well as systemic) features, and must be confirmed by laboratory biochemical and/or molecular genetic testing.1,3 The key laboratory diagnostic test for NP-C is filipin staining of cultured skin fibroblasts from the patient, to demonstrate free cholesterol accumulation in lysosomes secondary to impaired intracellular cholesterol transport.20 Evaluation of the rate of intracellular cholesterol esterification is a useful complementary test.20 Molecular genetic testing for NPC1 and NPC2 gene mutations is also vital to confirm diagnoses in patients with a variant biochemical phenotype, as well as to enable early and reliable prenatal diagnosis.20
Positive_regulation (testing) of Positive_regulation (mutations) of NPC1 in fibroblasts
1) Confidence 0.47 Published 2009 Journal Therapeutics and Clinical Risk Management Section Body Doc Link PMC2781062 Disease Relevance 0.67 Pain Relevance 0.04
Chronic ethanol also caused significant accumulation of the behaviorally active alpha- and gamma-type endorphins formed at the pSPM.
Positive_regulation (caused) of Positive_regulation (accumulation) of pSPM
2) Confidence 0.03 Published 1987 Journal Peptides Section Abstract Doc Link 2958786 Disease Relevance 0 Pain Relevance 0.19

General Comments

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