INT300718

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Context Info
Confidence 0.34
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 5
Disease Relevance 4.10
Pain Relevance 0.18

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

mitochondrion (Ptrf) endoplasmic reticulum (Ptrf) RNA binding (Ptrf)
rRNA binding (Ptrf) plasma membrane (Ptrf) nucleus (Ptrf)
Anatomy Link Frequency
muscle 1
Ptrf (Mus musculus)
Pain Link Frequency Relevance Heat
imagery 30 99.92 Very High Very High Very High
Action potential 5 49.88 Quite Low
Pain 5 43.52 Quite Low
tolerance 10 5.00 Very Low Very Low Very Low
abdominal pain 5 5.00 Very Low Very Low Very Low
backache 5 5.00 Very Low Very Low Very Low
potassium channel 5 5.00 Very Low Very Low Very Low
headache 5 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Acanthosis 20 99.34 Very High Very High Very High
Obesity 55 98.84 Very High Very High Very High
Intestinal Obstruction 5 98.54 Very High Very High Very High
Lipodystrophy 60 97.16 Very High Very High Very High
Congenital Generalized Lipodystrophy 55 95.92 Very High Very High Very High
Osteoporosis 35 93.84 High High
Calcification 10 93.28 High High
Syndrome 30 75.00 Quite High
Arrhythmia Under Development 20 75.00 Quite High
Hypertrophic Pyloric Stenosis 35 72.28 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
PTRF-CAVIN deficiency thus presents the phenotypic spectrum caused by a quintessential lack of functional caveolae.


Negative_regulation (deficiency) of PTRF-CAVIN
1) Confidence 0.34 Published 2010 Journal PLoS Genetics Section Abstract Doc Link PMC2837386 Disease Relevance 0.97 Pain Relevance 0.05
Absence of PTRF-CAVIN did not influence abundance of its binding partner caveolin-1 and caveolin-3.
Negative_regulation (Absence) of PTRF-CAVIN
2) Confidence 0.34 Published 2010 Journal PLoS Genetics Section Abstract Doc Link PMC2837386 Disease Relevance 1.18 Pain Relevance 0.03
In conclusion, the diverse clinical spectrum of PTRF-CAVIN deficiency displays the consequences of a quintessential lack of functional caveolae.
Negative_regulation (deficiency) of PTRF-CAVIN
3) Confidence 0.34 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2837386 Disease Relevance 0.77 Pain Relevance 0
The presence of generalized lipodystrophy in combination with muscle rippling/mounding, intestinal obstruction and the absence of acanthosis nigricans should let geneticists think of PTRF-CAVIN deficiency.
Negative_regulation (deficiency) of PTRF-CAVIN in muscle associated with intestinal obstruction, lipodystrophy and acanthosis
4) Confidence 0.34 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2837386 Disease Relevance 0.78 Pain Relevance 0
This further strengthens the assumption that PTRF-CAVIN deficiency presents the phenotypic spectrum caused by generalized impairment of caveolae biogenesis.
Negative_regulation (deficiency) of PTRF-CAVIN
5) Confidence 0.34 Published 2010 Journal PLoS Genetics Section Body Doc Link PMC2837386 Disease Relevance 0.40 Pain Relevance 0.09

General Comments

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