INT229786

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Context Info
Confidence 0.60
First Reported 2008
Last Reported 2008
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 1
Disease Relevance 0.78
Pain Relevance 0.71

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 (SPTLC1) endoplasmic reticulum (SPTLC1) biosynthetic process (SPTLC1)
transferase activity, transferring acyl groups (SPTLC1)
SPTLC1 (Homo sapiens)
Pain Link Frequency Relevance Heat
Hsan 94 100.00 Very High Very High Very High
Demyelination 1 7.44 Low Low
Pain 4 5.00 Very Low Very Low Very Low
imagery 2 5.00 Very Low Very Low Very Low
unmyelinated 2 5.00 Very Low Very Low Very Low
Spinal cord 1 5.00 Very Low Very Low Very Low
lancinating pain 1 5.00 Very Low Very Low Very Low
syringomyelia 1 5.00 Very Low Very Low Very Low
diabetic neuropathy 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Hereditary Sensory And Autonomic Neuropathies 101 100.00 Very High Very High Very High
Disease 24 74.12 Quite High
Diabetic Nephropathy 2 47.72 Quite Low
Neuropathic Pain 13 44.56 Quite Low
Injury 4 34.76 Quite Low
Demyelinating Disease 3 7.44 Low Low
Syndrome 7 5.00 Very Low Very Low Very Low
Infection 6 5.00 Very Low Very Low Very Low
Charcot Marie Tooth Disease 6 5.00 Very Low Very Low Very Low
Necrosis 5 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The most common mutation was a single base substitution c.399T > G in exon 5 of the SPTLC1 coding region resulting in a single amino acid substitution of cysteine to tryptophan (C133W) and was found in eight HSN I families of Australian, English and Canadian origin.
Transcription (found) of HSN associated with hsan
1) Confidence 0.60 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2311280 Disease Relevance 0.78 Pain Relevance 0.71

General Comments

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