INT320839

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Context Info
Confidence 0.37
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 1
Disease Relevance 0.61
Pain Relevance 0

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

extracellular space (Smpd1) hydrolase activity, acting on glycosyl bonds (Smpd1) lysosome (Smpd1)
Smpd1 (Mus musculus)
Pain Link Frequency Relevance Heat
imagery 3 5.00 Very Low Very Low Very Low
peripheral neuropathy 1 5.00 Very Low Very Low Very Low
cINOD 1 5.00 Very Low Very Low Very Low
antiepileptic Drug 1 5.00 Very Low Very Low Very Low
medulla 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Disease 109 98.44 Very High Very High Very High
Pick Disease Of The Brain 12 74.64 Quite High
Congenital Anomalies 11 66.44 Quite High
Dystonia 11 11.76 Low Low
Lipidosis 6 11.04 Low Low
Type C Niemann-pick Disease 1 7.84 Low Low
Splenomegaly 14 5.00 Very Low Very Low Very Low
Paralysis 13 5.00 Very Low Very Low Very Low
Ataxia 13 5.00 Very Low Very Low Very Low
Sleep Disorders 13 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Niemann-Pick diseases thus oppose two clearly distinct groups: acid sphingomyelinase deficiencies (due to SMPD1 mutations, including types A, B and intermediate forms,) and Niemann-Pick type C, with alterations in trafficking of endocytosed cholesterol (due to NPC1 or NPC2 mutations).
Regulation (due) of Gene_expression (mutations) of SMPD1 associated with disease
1) Confidence 0.37 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2902432 Disease Relevance 0.61 Pain Relevance 0

General Comments

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