INT173086

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Context Info
Confidence 0.59
First Reported 2003
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 14
Total Number 14
Disease Relevance 12.54
Pain Relevance 0.29

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
central nervous system 2
germline 1
red blood cells 1
VHL (Homo sapiens)
Pain Link Frequency Relevance Heat
Central nervous system 6 96.72 Very High Very High Very High
headache 7 74.72 Quite High
imagery 31 55.20 Quite High
medulla 2 35.24 Quite Low
Pain 6 30.48 Quite Low
cytokine 25 5.00 Very Low Very Low Very Low
ischemia 7 5.00 Very Low Very Low Very Low
Chronic pancreatitis 6 5.00 Very Low Very Low Very Low
cva 4 5.00 Very Low Very Low Very Low
Inflammation 4 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Cancer 472 100.00 Very High Very High Very High
Syndrome 355 100.00 Very High Very High Very High
Renal Cell Carcinoma 34 99.60 Very High Very High Very High
Carcinoma 20 99.16 Very High Very High Very High
Renal Cancer 247 99.08 Very High Very High Very High
Hypoxia 212 98.68 Very High Very High Very High
Disease 331 98.48 Very High Very High Very High
Erythrocytosis 103 98.36 Very High Very High Very High
Pheochromocytoma 108 97.76 Very High Very High Very High
Brain Tumor 2 95.80 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
which are mostly missense changes that reduce pVHL activity, predispose to the
Negative_regulation (reduce) of pVHL
1) Confidence 0.59 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.60 Pain Relevance 0
Another class of VHL point mutations inactivates pVHL
Negative_regulation (inactivates) of pVHL
2) Confidence 0.43 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.47 Pain Relevance 0
premature-termination mutations that cause total loss of pVHL function,
Negative_regulation (loss) of pVHL
3) Confidence 0.43 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.57 Pain Relevance 0
reported a reduced risk for RCC in individuals with a complete deletion of the VHL gene.
Negative_regulation (deletion) of VHL
4) Confidence 0.43 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.45 Pain Relevance 0
inactivation of the von Hippel Lindau (VHL) tumor
Negative_regulation (inactivation) of VHL associated with cancer
5) Confidence 0.42 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2467459 Disease Relevance 1.05 Pain Relevance 0.03
From in vivo experiments in mice, Hoffmann et al., has described a group of VHL type 2C mutants which all retained the ability to interact with HIF and to down regulate HIF target genes when reintroduced into pVHL defective tumour cells.
Negative_regulation (defective) of pVHL associated with cancer and syndrome
6) Confidence 0.41 Published 2007 Journal World J Surg Oncol Section Body Doc Link PMC2169240 Disease Relevance 1.47 Pain Relevance 0
It is a tumour suppressor gene and a tumour cell develops when inactivation of both copies of the VHL gene occurs.
Negative_regulation (inactivation) of VHL associated with syndrome and cancer
7) Confidence 0.41 Published 2007 Journal World J Surg Oncol Section Body Doc Link PMC2169240 Disease Relevance 2.40 Pain Relevance 0.03
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 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 0.96 Pain Relevance 0
who do not have a detectable VHL germline mutation, somatic mosaicism
Negative_regulation (mosaicism) of VHL in germline
9) Confidence 0.37 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.75 Pain Relevance 0
Recently, researchers discovered that a genetic condition called Chuvash polycythaemia, characterised by the overproduction of red blood cells, is caused by a specific defect in VHL that reduces its ability to destroy HIF.
Negative_regulation (defect) of VHL in red blood cells associated with erythrocytosis
10) Confidence 0.36 Published 2006 Journal PLoS Medicine Section Abstract Doc Link PMC1479389 Disease Relevance 0.82 Pain Relevance 0
The von Hippel-Lindau protein (pVHL) is the product of the VHL gene, a tumor-suppressor gene known to be inactivated in renal clear-cell carcinomas as well as other markedly vascular tumors such as central nervous system hemangioblastoma [24].
Negative_regulation (inactivated) of pVHL in central nervous system associated with cancer, carcinoma, central nervous system and brain tumor
11) Confidence 0.31 Published 2003 Journal Mol Cancer Section Body Doc Link PMC150383 Disease Relevance 0.62 Pain Relevance 0.05
Activation of the hypoxia response pathway by mutations of the von Hippel-Lindau (VHL) tumor suppressor gene produces transcriptional activation of genes important in tumor progression, including vascular endothelial growth factor (VEGF), a potent promoter of tumor-associated angiogenesis.2,7 The VHL gene encodes a 213 amino acid protein (pVHL) which functionally regulates the normal cellular response to oxygen deprivation.
Negative_regulation (deprivation) of VHL associated with cancer and hypoxia
12) Confidence 0.29 Published 2010 Journal Cancer management and research Section Body Doc Link PMC3004565 Disease Relevance 1.13 Pain Relevance 0
The von Hippel-Lindau protein (pVHL) is the product of the VHL gene, a tumor-suppressor gene known to be inactivated in renal clear-cell carcinomas as well as other markedly vascular tumors such as central nervous system hemangioblastoma [24].
Negative_regulation (inactivated) of Hippel-Lindau protein in central nervous system associated with cancer, carcinoma, central nervous system and brain tumor
13) Confidence 0.27 Published 2003 Journal Mol Cancer Section Body Doc Link PMC150383 Disease Relevance 0.63 Pain Relevance 0.05
All patients were screened for defects in the Von Hippel-Lindau, HIF-1alpha, HIF-2alpha, PHD1-3, JAK2, and EPOR genes.
Negative_regulation (defects) of Von Hippel-Lindau
14) Confidence 0.12 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2916842 Disease Relevance 0.60 Pain Relevance 0.13

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