INT340365

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Context Info
Confidence 0.99
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 2
Disease Relevance 1.03
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
reticulum 2
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
Congenital Anomalies 6 99.24 Very High Very High Very High
Disease 100 87.48 High High
Kidney Stones 82 71.60 Quite High
Nephrocalcinosis 28 70.08 Quite High
Cataract 14 42.56 Quite Low
Cerebellooculorenal Syndrome 24 36.56 Quite Low
Dent Disease 38 26.32 Quite Low
Syndrome 12 21.68 Low Low
Rickets 20 14.04 Low Low
Intellectual Impairment 8 11.72 Low Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Further detailed studies of the CLCN5 missense mutations have revealed that these may lead to one of three abnormalities; endoplasmic reticulum retention and degradation of ClC-5, defective endosomal acidification, or altered endosomal distribution of ClC-5 but not defective endosomal acidification [16].
Protein_catabolism (degradation) of ClC-5 in reticulum associated with congenital anomalies
1) Confidence 0.99 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.50 Pain Relevance 0
Further detailed studies of the CLCN5 missense mutations have revealed that these may lead to one of three abnormalities; endoplasmic reticulum retention and degradation of ClC-5, defective endosomal acidification, or altered endosomal distribution of ClC-5 but not defective endosomal acidification [16].
Protein_catabolism (degradation) of ClC-5 in reticulum associated with congenital anomalies
2) Confidence 0.88 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.53 Pain Relevance 0

General Comments

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