INT66042

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Context Info
Confidence 0.68
First Reported 1996
Last Reported 2008
Negated 0
Speculated 0
Reported most in Abstract
Documents 2
Total Number 2
Disease Relevance 0.97
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.

mitochondrion (SPTLC2) small molecule metabolic process (SPTLC2) endoplasmic reticulum (SPTLC2)
biosynthetic process (SPTLC2) transferase activity, transferring acyl groups (SPTLC2)
SPTLC2 (Homo sapiens)
Pain Link Frequency Relevance Heat
Hsan 97 98.44 Very High Very High Very High
Nerve growth factor 2 80.24 Quite High
Pain 5 70.32 Quite High
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
Demyelination 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 104 98.44 Very High Very High Very High
Familial Dysautonomia 1 97.66 Very High Very High Very High
Repression 1 86.32 High High
Pain 6 70.32 Quite High
Osteoarthritis 1 69.16 Quite High
Neuropathic Pain 14 68.40 Quite High
Peripheral Neuropathy 1 65.64 Quite High
Death 1 28.96 Quite Low
Apoptosis 1 28.40 Quite Low
Necrosis 5 27.28 Quite Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The C133W and V144D SPTLC1 mutations were originally suggested to increase the serine palmitoyltransferase function with higher levels of glycosyl ceramide compared to controls behaving as gain of function mutations [13].
Positive_regulation (increase) of serine palmitoyltransferase
1) Confidence 0.68 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2311280 Disease Relevance 0.44 Pain Relevance 0.29
The segregation of polymorphic alleles at and around loci for p75NGFR, TRKA, TRKB, BDNF, and familial dysautonomia (another hereditary sensory neuropathy having features in common with HSN II) virtually excluded these genes as the cause of HSN II in this family.
Positive_regulation (cause) of HSN II associated with familial dysautonomia and hsan
2) Confidence 0.12 Published 1996 Journal Pain Section Abstract Doc Link 8895241 Disease Relevance 0.54 Pain Relevance 0.38

General Comments

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