INT340362

From wiki-pain
Jump to: navigation, search
Context Info
Confidence 0.67
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 3
Total Number 3
Disease Relevance 2.27
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
abdominal pain 3 5.00 Very Low Very Low Very Low
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
Disease Link Frequency Relevance Heat
Dent Disease 38 99.84 Very High Very High Very High
Cerebellooculorenal Syndrome 24 99.48 Very High Very High Very High
Disease 104 98.64 Very High Very High Very High
Cataract 14 89.24 High High
Nephrocalcinosis 28 75.76 Quite High
Kidney Stones 82 74.92 Quite High
Congenital Anomalies 7 54.68 Quite High
Targeted Disruption 28 52.80 Quite High
Proteinuria 32 5.00 Very Low Very Low Very Low
Rickets 20 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
All of the OCRL1 missense mutations associated with Dent's disease occur in the 5' region of the gene (exons 4 to 15) and involve the phosphatidylinositol phosphate 5-phosphatase domain of the OCRL1 protein, whilst the truncating mutations are in the first seven exons or intron 7.
Gene_expression (missense) of OCRL1 associated with disease
1) Confidence 0.67 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 1.03 Pain Relevance 0
A model in which a reduced but functioning form or isoform of OCRL1 protein is expressed in Dent disease 2, but not Lowe syndrome, has been proposed to explain the milder phenotypic features observed in the former patients [9].
Gene_expression (expressed) of OCRL1 associated with dent disease and cerebellooculorenal syndrome
2) Confidence 0.60 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 1.14 Pain Relevance 0
A total of eight such genes were found that were also present in the mouse reconstruction (OCRL, ACO1, PAFAH1B3, PGM1, FUT9, RHBG, ITPKC, SORD).
Gene_expression (reconstruction) of OCRL
3) Confidence 0.39 Published 2010 Journal BMC Syst Biol Section Body Doc Link PMC2978158 Disease Relevance 0.11 Pain Relevance 0

General Comments

This test has worked.

Personal tools
Namespaces

Variants
Actions
Navigation
Toolbox