INT235467

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Context Info
Confidence 0.43
First Reported 2008
Last Reported 2010
Negated 1
Speculated 0
Reported most in Body
Documents 9
Total Number 10
Disease Relevance 8.67
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.

cytosol (VHL) mitochondrion (VHL) cell morphogenesis (VHL)
endoplasmic reticulum (VHL) nucleus (VHL) extracellular matrix organization (VHL)
Anatomy Link Frequency
Germline 4
VHL (Homo sapiens)
Pain Link Frequency Relevance Heat
imagery 25 38.00 Quite Low
Pain 9 30.48 Quite Low
agonist 20 5.00 Very Low Very Low Very Low
Inflammation 16 5.00 Very Low Very Low Very Low
Inflammatory response 3 5.00 Very Low Very Low Very Low
cytokine 1 5.00 Very Low Very Low Very Low
cINOD 1 5.00 Very Low Very Low Very Low
Kinase C 1 5.00 Very Low Very Low Very Low
Arthritis 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Syndrome 331 100.00 Very High Very High Very High
Hypoxia 35 99.68 Very High Very High Very High
Renal Cell Carcinoma 65 99.60 Very High Very High Very High
Renal Cancer 215 98.96 Very High Very High Very High
Disease 357 98.58 Very High Very High Very High
Pheochromocytoma 56 98.36 Very High Very High Very High
Cancer 307 96.48 Very High Very High Very High
Paraganglioma 7 78.08 Quite High
Hemangioma 7 73.96 Quite High
Hemangioblastoma 14 73.28 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
premature-termination mutations that cause total loss of pVHL function,
Negative_regulation (loss) of Gene_expression (function) of pVHL
1) Confidence 0.43 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.57 Pain Relevance 0
the proband are at 50% risk of inheriting the altered gene; and if neither parent has the disease-causing VHL mutation identified in the proband, the sibs have a small risk of VHL syndrome because of
Negative_regulation (risk) of Gene_expression (syndrome) of VHL associated with syndrome and disease
2) Confidence 0.37 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.65 Pain Relevance 0
individuals diagnosed with VHL syndrome have an affected parent whereas de novo mutations of the VHL gene are estimated to occur in about 20%
Negative_regulation (diagnosed) of Gene_expression (syndrome) of VHL associated with syndrome
3) Confidence 0.37 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.74 Pain Relevance 0
who do not have a detectable VHL germline mutation, somatic mosaicism
Negative_regulation (mosaicism) of Neg (not) Gene_expression (detectable) of VHL in germline
4) Confidence 0.37 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.75 Pain Relevance 0
relatives when a family member with a clinical diagnosis of VHL syndrome is not
Negative_regulation (diagnosis) of Gene_expression (syndrome) of VHL associated with syndrome
5) Confidence 0.37 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.54 Pain Relevance 0
Germline VHL mutations are rare in simplex cases of unilateral pheochromocytoma

(i.e., an affected individual with no family history of VHL syndrome), unless the

Negative_regulation (Germline) of Gene_expression (mutations) of VHL in Germline associated with syndrome and pheochromocytoma
6) Confidence 0.37 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 1.42 Pain Relevance 0
As mentioned above, VHL
Negative_regulation (above) of Gene_expression (mentioned) of VHL
7) Confidence 0.37 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.91 Pain Relevance 0
The pathogenesis of clear cell RCC is associated with loss of function of von Hippel-Lindau (VHL) gene and overproduction of the hypoxia-inducible factor (HIF).
Negative_regulation (loss) of Gene_expression (overproduction) of VHL associated with hypoxia and renal cell carcinoma
8) Confidence 0.37 Published 2010 Journal Cancer management and research Section Body Doc Link PMC3004583 Disease Relevance 0.97 Pain Relevance 0
The pathogenesis of clear cell RCC is associated with loss of function of von Hippel-Lindau (VHL) gene and overproduction of the hypoxia-inducible factor (HIF).
Negative_regulation (loss) of Gene_expression (overproduction) of Hippel-Lindau associated with hypoxia and renal cell carcinoma
9) Confidence 0.32 Published 2010 Journal Cancer management and research Section Body Doc Link PMC3004583 Disease Relevance 0.97 Pain Relevance 0
Mutations in pVHL gene predispose
Negative_regulation (predispose) of Gene_expression (Mutations) of pVHL gene
10) Confidence 0.21 Published 2008 Journal PPAR Research Section Body Doc Link PMC2423003 Disease Relevance 1.14 Pain Relevance 0

General Comments

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