INT340370

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

Golgi apparatus (Ocrl)

Ocrl (Mus musculus)

Pain Link Frequency Relevance Heat Sicca syndrome 2 5.00 fibrosis 2 5.00 Glutamate 2 5.00 Pain 2 5.00 medulla 2 5.00 abdominal pain 2 5.00

Disease Link Frequency Relevance Heat Cerebellooculorenal Syndrome 24 99.80 Targeted Disruption 6 98.56 Disease 100 95.28 Congenital Anomalies 6 92.36 Dent Disease 38 89.40 Proteinuria 32 88.80 Protein Deficiency 2 83.96 Kidney Stones 82 76.32 Nephrocalcinosis 28 64.48 Hematuria 4 61.84

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

This test has worked.