INT94146

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Context Info
Confidence 0.51
First Reported 2001
Last Reported 2007
Negated 0
Speculated 1
Reported most in Abstract
Documents 2
Total Number 3
Disease Relevance 2.39
Pain Relevance 0.36

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
Pain 17 86.12 High High
Hsan 18 75.00 Quite High
Nerve growth factor 2 74.92 Quite High
unmyelinated 12 5.00 Very Low Very Low Very Low
gABA 6 5.00 Very Low Very Low Very Low
Visceral pain 6 5.00 Very Low Very Low Very Low
c fibre 6 5.00 Very Low Very Low Very Low
Clonidine 4 5.00 Very Low Very Low Very Low
agonist 4 5.00 Very Low Very Low Very Low
Action potential 4 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Hereditary Sensory And Autonomic Neuropathies 150 100.00 Very High Very High Very High
Rare Diseases 2 100.00 Very High Very High Very High
Gastroesophageal Reflux Disease 16 89.12 High High
Skin Ulcer 1 87.68 High High
Pain 15 86.12 High High
Frailty 3 85.04 High High
Apoptosis 2 66.80 Quite High
Death 2 63.12 Quite High
Familial Dysautonomia 60 62.76 Quite High
Syndrome 6 58.32 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
As a group, the HSAN are rare diseases that affect both sexes.
Regulation (affect) of HSAN associated with rare diseases and hereditary sensory and autonomic neuropathies
1) Confidence 0.51 Published 2007 Journal Orphanet J Rare Dis Section Abstract Doc Link PMC2098750 Disease Relevance 1.24 Pain Relevance 0.09
Specific genetic mutations have not been identified for the other HSAN disorders, although there is some evidence that a mutation in the NTRK1 gene also may be responsible for HSAN V [14].
Spec (may) Regulation (responsible) of HSAN associated with hereditary sensory and autonomic neuropathies
2) Confidence 0.38 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2098750 Disease Relevance 0.61 Pain Relevance 0.04
Mutation screening revealed 3 different missense mutations resulting in changes to 2 amino acids in all affected members of 11 HSN1 families.
Regulation (affected) of HSN1
3) Confidence 0.26 Published 2001 Journal Nat. Genet. Section Abstract Doc Link 11242114 Disease Relevance 0.54 Pain Relevance 0.23

General Comments

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