INT340360

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Context Info
Confidence 0.50
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 2
Disease Relevance 1.62
Pain Relevance 0

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

endosome (Clcn5) transport (Clcn5) Golgi apparatus (Clcn5)
plasma membrane (Clcn5) transmembrane transport (Clcn5)
Anatomy Link Frequency
kidney 1
Clcn5 (Mus musculus)
Pain Link Frequency Relevance Heat
Sicca syndrome 2 5.00 Very Low Very Low Very Low
fibrosis 2 5.00 Very Low Very Low Very Low
Glutamate 2 5.00 Very Low Very Low Very Low
Pain 2 5.00 Very Low Very Low Very Low
medulla 2 5.00 Very Low Very Low Very Low
abdominal pain 2 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Kidney Stones 82 99.04 Very High Very High Very High
Nephrocalcinosis 28 98.58 Very High Very High Very High
Disease 100 98.06 Very High Very High Very High
Congenital Anomalies 6 84.72 Quite High
Sprains And Strains 6 80.64 Quite High
Cataract 14 64.16 Quite High
Cystinosis 4 60.56 Quite High
Lysosome Storage Disease 2 59.68 Quite High
Cerebellooculorenal Syndrome 24 58.16 Quite High
Dent Disease 38 47.92 Quite Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Furthermore, genetic inactivation of the Clcn5 gene in mice mimics the severe PT dysfunction observed in Dent's disease, including hypercalciuria and nephrocalcinosis (see below).
Positive_regulation (inactivation) of Clcn5 associated with kidney stones, disease and nephrocalcinosis
1) Confidence 0.50 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.66 Pain Relevance 0
A small fraction of patients with Dent's disease may have nephrocalcinosis without hypercalciuria [10], which could indeed reflect the fact that ClC-5 is distributed in several nephron segments that can contribute to the genesis of kidney stones through different mechanisms.
Positive_regulation (distributed) of ClC-5 in kidney associated with kidney stones, disease and nephrocalcinosis
2) Confidence 0.47 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.97 Pain Relevance 0

General Comments

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