INT340370

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Context Info
Confidence 0.43
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 2
Disease Relevance 2.31
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.

Golgi apparatus (Ocrl)
Ocrl (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
Cerebellooculorenal Syndrome 24 99.80 Very High Very High Very High
Targeted Disruption 6 98.56 Very High Very High Very High
Disease 100 95.28 Very High Very High Very High
Congenital Anomalies 6 92.36 High High
Dent Disease 38 89.40 High High
Proteinuria 32 88.80 High High
Protein Deficiency 2 83.96 Quite High
Kidney Stones 82 76.32 Quite High
Nephrocalcinosis 28 64.48 Quite High
Hematuria 4 61.84 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Thus, no mouse model recapitulating Lowe syndrome caused by the deficiency in OCRL1 is available.


Negative_regulation (deficiency) of OCRL1 associated with cerebellooculorenal syndrome
1) Confidence 0.43 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 1.31 Pain Relevance 0
It must be noted that the targeted disruption of the murine ortholog for OCRL1 does not cause Lowe syndrome, because Ocrl1 deficiency is complemented in mice by inositol polyphosphate 5-phosphatase (Inpp5b) [43].
Negative_regulation (deficiency) of Ocrl1 associated with targeted disruption and cerebellooculorenal syndrome
2) Confidence 0.43 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 1.00 Pain Relevance 0

General Comments

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