INT289892

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Context Info
Confidence 0.42
First Reported 2005
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 3
Total Number 3
Disease Relevance 1.17
Pain Relevance 0.13

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

extracellular region (SEPN1) endoplasmic reticulum (SEPN1) molecular_function (SEPN1)
biological_process (SEPN1)
Anatomy Link Frequency
muscle 3
SEPN1 (Homo sapiens)
Pain Link Frequency Relevance Heat
imagery 120 98.86 Very High Very High Very High
Pain 5 37.24 Quite Low
Inflammation 12 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Channelopathies 5 99.12 Very High Very High Very High
Muscle Disease 93 97.92 Very High Very High Very High
Hypopituitarism 3 68.80 Quite High
Disease 85 60.76 Quite High
Pressure And Volume Under Development 5 51.36 Quite High
Muscular Dystrophy 65 45.12 Quite Low
Brain Disease 2 43.84 Quite Low
Walker-warburg Syndrome 2 42.80 Quite Low
Syndrome 6 39.76 Quite Low
Coronary Artery Disease 2 35.80 Quite Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Typical muscle imaging findings of patients with proven mutations in the DNM2, SEPN1, ACTA1, RYR1 and collagen 6A1 are provided

Muscle channelopathies and metabolic myopathies

Gene_expression (6A1) of SEPN1 in muscle associated with muscle disease, channelopathies and imagery
1) Confidence 0.42 Published 2010 Journal Eur Radiol Section Body Doc Link PMC2940021 Disease Relevance 0.99 Pain Relevance 0.13
Analysis of the expression pattern of the selenoprotein N gene revealed that it is ubiquitously expressed in all tissues examined, an observation difficult to reconcile with the muscle-specific phenotype associated with mutations in the gene.
Gene_expression (expression) of selenoprotein N gene in muscle
2) Confidence 0.40 Published 2005 Journal Cell Mol Life Sci Section Body Doc Link PMC2792354 Disease Relevance 0.06 Pain Relevance 0
Among the numerous unanswered questions, one of the most intriguing concerns the ubiquitous expression of the SEPN1 gene, an observation rather unexpected considering the muscle-specific disorder associated with mutations in this gene.
Gene_expression (expression) of SEPN1 gene in muscle
3) Confidence 0.36 Published 2005 Journal Cell Mol Life Sci Section Body Doc Link PMC2792354 Disease Relevance 0.11 Pain Relevance 0

General Comments

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