INT91099

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Context Info
Confidence 0.67
First Reported 2000
Last Reported 2006
Negated 0
Speculated 0
Reported most in Body
Documents 2
Total Number 3
Disease Relevance 1.32
Pain Relevance 0.07

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

cytosol (MFN2) mitochondrion (MFN2) GTPase activity (MFN2)
Anatomy Link Frequency
Tooth 1
MFN2 (Homo sapiens)
Pain Link Frequency Relevance Heat
Hsan 1 75.00 Quite High
Peripheral nervous system 4 29.80 Quite Low
Action potential 2 13.60 Low Low
peripheral neuropathy 8 5.00 Very Low Very Low Very Low
Pain 2 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Charcot Marie Tooth Disease 42 100.00 Very High Very High Very High
Neuropathic Pain 2 98.80 Very High Very High Very High
Hereditary Sensory And Autonomic Neuropathies 3 97.48 Very High Very High Very High
Muscle Weakness 2 88.28 High High
Skin Ulcer 1 87.60 High High
Mouth Disease 8 77.56 Quite High
Diabetic Nephropathy 1 77.28 Quite High
Neuropathy 14 71.20 Quite High
Disease 10 70.16 Quite High
Demyelinating Disease 2 36.00 Quite Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Mutation analysis of MFN2 gene
Gene_expression (gene) of MFN2
1) Confidence 0.67 Published 2006 Journal BMC Med Genet Section Body Doc Link PMC1524942 Disease Relevance 0.30 Pain Relevance 0
The heterozygous point mutation c.380 G>T in exon 5 of MFN2 (fig. 1a) was detected in a 58 year old female patient (patient 1), predicting the exchange of Glycine to Valine at position 127 of the MFN2 protein (G127V).
Gene_expression (detected) of MFN2
2) Confidence 0.52 Published 2006 Journal BMC Med Genet Section Body Doc Link PMC1524942 Disease Relevance 0.07 Pain Relevance 0
Results of linkage analysis excluded the Charcot-Marie-Tooth 2A (CMT2A) and CMT2B loci and suggested the possibility of a linkage to HSAN-I locus on 9q22.1-q22.3.
Gene_expression (excluded) of CMT2A in Tooth associated with charcot marie tooth disease and hereditary sensory and autonomic neuropathies
3) Confidence 0.30 Published 2000 Journal Muscle Nerve Section Abstract Doc Link 11003785 Disease Relevance 0.95 Pain Relevance 0.07

General Comments

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