INT340366

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Context Info
Confidence 0.77
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 6
Disease Relevance 4.80
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
proximal 1
ascending limb 1
oocytes 1
intestine 1
pole 1
Clcn5 (Mus musculus)
Pain Link Frequency Relevance Heat
Glutamate 6 27.88 Quite Low
Sicca syndrome 6 5.00 Very Low Very Low Very Low
fibrosis 6 5.00 Very Low Very Low Very Low
Pain 6 5.00 Very Low Very Low Very Low
medulla 6 5.00 Very Low Very Low Very Low
abdominal pain 6 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Disease 300 100.00 Very High Very High Very High
Kidney Stones 246 99.56 Very High Very High Very High
Dent Disease 114 99.12 Very High Very High Very High
Nephrocalcinosis 84 98.84 Very High Very High Very High
Cerebellooculorenal Syndrome 72 97.36 Very High Very High Very High
Stress 6 96.48 Very High Very High Very High
Sprains And Strains 18 92.28 High High
Hyperthyroidism 6 89.68 High High
Rickets 60 80.60 Quite High
Congenital Anomalies 18 79.52 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Indeed heterologous expression of these Dent's disease CLCN5 mutants, in either Xenopus laevis oocytes or HEK293 cells, has revealed that the majority of CLCN5 mutations lead to a loss of Cl- conductance [5].
Gene_expression (expression) of CLCN5 in oocytes associated with disease
1) Confidence 0.77 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.26 Pain Relevance 0
The phenotype of Dent's disease is explained by the predominant expression of ClC-5 in the proximal tubule segments of the kidney.
Gene_expression (expression) of ClC-5 in proximal associated with disease
2) Confidence 0.77 Published 2010 Journal Orphanet J Rare Dis Section Abstract Doc Link PMC2964617 Disease Relevance 1.73 Pain Relevance 0
Recently, Gailly et al. showed that the deletion of ClC-5 in mouse and human PT cells is associated with increased cell proliferation, oxidative stress and the specific induction of type III carbonic anhydrase [29].
Gene_expression (deletion) of ClC-5 associated with stress
3) Confidence 0.67 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.67 Pain Relevance 0
The complex phenotype of Dent disease 1 is probably explained by the predominant expression of ClC-5 in the PT segments, with more discrete expression in the thick ascending limb (TAL) of Henle's loop and the ?
Gene_expression (expression) of ClC-5 in ascending limb associated with dent disease
4) Confidence 0.60 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.60 Pain Relevance 0
Of note, ClC-5 is highly expressed in the mouse thyroid, located in various endosomes at the apical pole of the thyrocytes.
Gene_expression (expressed) of ClC-5 in pole
5) Confidence 0.60 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.69 Pain Relevance 0
Although ClC-5 mRNA and protein are detected in rodent intestine [36] and thyroid [37], no clear phenotype related to these tissues has been reported in patients.
Gene_expression (detected) of ClC-5 mRNA in intestine
6) Confidence 0.60 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.86 Pain Relevance 0

General Comments

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