INT340359

Context Info Confidence 0.48 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 1.91 Pain Relevance 0

endosome (Clcn5) transport (Clcn5) Golgi apparatus (Clcn5) plasma membrane (Clcn5) transmembrane transport (Clcn5)

Clcn5 (Mus musculus)

Pain Link Frequency Relevance Heat abdominal pain 1 39.36 Pain 1 35.64 Sicca syndrome 1 5.00 fibrosis 1 5.00 Glutamate 1 5.00 medulla 1 5.00

Disease Link Frequency Relevance Heat Dent Disease 19 98.76 Focal Segmental Glomerulosclerosis 1 96.96 Proteinuria 16 95.24 Disease 50 94.16 Renal Failure 6 89.96 Intellectual Impairment 4 88.16 Kidney Stones 41 87.32 Muscle Hypotonia 2 85.84 Cataract 7 84.72 Syndrome 6 76.48

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

The occurrence of these predominantly renal manifestations and their association with causative mutations in ClC-5 (see below) is referred to as Dent disease 1.

ClC-5 Binding (association) of associated with dent disease

1) Confidence 0.48 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 1.91 Pain Relevance 0

General Comments

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