INT262004

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Context Info
Confidence 0.59
First Reported 2009
Last Reported 2010
Negated 0
Speculated 1
Reported most in Body
Documents 4
Total Number 5
Disease Relevance 3.24
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.

small molecule metabolic process (CYP1B1) endoplasmic reticulum (CYP1B1)
CYP1B1 (Homo sapiens)
Pain Link Frequency Relevance Heat
anesthesia 14 5.00 Very Low Very Low Very Low
halothane 4 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Glaucoma 474 99.48 Very High Very High Very High
Disease 64 98.24 Very High Very High Very High
Brain Stem Infarctions 1 87.44 High High
Ocular Hypertension 66 87.36 High High
Blindness 5 68.56 Quite High
Congenital Anomalies 8 51.52 Quite High
Corneal Edema 5 46.64 Quite Low
Hydrophthalmos 1 46.00 Quite Low
Retinoblastoma 4 20.64 Low Low
Photophobia 5 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
According to this hypothesis, our results show that PCG patients with a complete loss of CYP1B1 enzymatic activity display the most severe disease phenotype featured by very early mean onset of the disease (0.6±0.9 months).
Negative_regulation (loss) of CYP1B1 associated with glaucoma and disease
1) Confidence 0.59 Published 2009 Journal Molecular Vision Section Body Doc Link PMC2645906 Disease Relevance 0.79 Pain Relevance 0
Our data show that complete loss of CYP1B1 catalytic activity is associated with the most severe phenotypes and indicate the influence of modifier genes and/or environmental factors in the phenotypic expression, particularly in subjects carrying hypomorphic CYP1B1 alleles.


Negative_regulation (loss) of CYP1B1
2) Confidence 0.43 Published 2009 Journal Molecular Vision Section Body Doc Link PMC2645906 Disease Relevance 0.62 Pain Relevance 0
They found that G61E was much less stable than the wild-type protein (the CYP1B1 level decreased about 50%, after 24 h storage at 4 ºC).
Negative_regulation (decreased) of CYP1B1
3) Confidence 0.43 Published 2009 Journal Molecular Vision Section Body Doc Link PMC2645906 Disease Relevance 0.06 Pain Relevance 0
Further studies with a larger number of patients will be required to confirm whether in fact the complete absence of CYP1B1 activity correlates with the worst phenotype.
Spec (whether) Negative_regulation (absence) of CYP1B1
4) Confidence 0.43 Published 2009 Journal Molecular Vision Section Body Doc Link PMC2645906 Disease Relevance 0.72 Pain Relevance 0
Recently, extended studies and functional analysis demonstrated that heterozygous CYP1B1 mutations with absent or reduced function can be considered as a risk factor for POAG [18,19].
Negative_regulation (reduced) of CYP1B1 associated with glaucoma
5) Confidence 0.42 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2901188 Disease Relevance 1.05 Pain Relevance 0

General Comments

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