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Context Info
Confidence 0.78
First Reported 1993
Last Reported 2010
Negated 4
Speculated 0
Reported most in Body
Documents 70
Total Number 72
Disease Relevance 75.21
Pain Relevance 2.21

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 6
proximal 3
pulmonary artery 2
central nervous system 2
heart 2
VHL (Homo sapiens)
Pain Link Frequency Relevance Heat
Central nervous system 20 97.68 Very High Very High Very High
Pain 36 92.72 High High
Angina 22 92.48 High High
ischemia 49 92.28 High High
imagery 183 85.32 High High
Catecholamine 130 83.64 Quite High
noradrenaline 24 81.84 Quite High
Nicotine 4 74.32 Quite High
headache 27 70.48 Quite High
Analgesic 5 70.08 Quite High
Disease Link Frequency Relevance Heat
Cancer 2117 100.00 Very High Very High Very High
Syndrome 1808 100.00 Very High Very High Very High
Disease 1764 100.00 Very High Very High Very High
Pathologic Constriction 48 100.00 Very High Very High Very High
Autosomal Dominant Polycystic Kidney 3 99.92 Very High Very High Very High
Pheochromocytoma 744 99.88 Very High Very High Very High
Von Hippel-lindau Syndrome 23 99.88 Very High Very High Very High
Recurrence 49 99.84 Very High Very High Very High
Watson Syndrome 57 99.76 Very High Very High Very High
Hypoxia 286 99.68 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Type 2C mutations produce pVHL that
Gene_expression (produce) of pVHL
1) Confidence 0.78 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.54 Pain Relevance 0
In human embryos, pVHL is expressed in all three germ layers with a strong expression in the central nervous system, kidneys, testes and lungs[17]. pVHL forms a complex with different proteins including transcription factors Elongin B and C.
Gene_expression (expressed) of pVHL in testes associated with central nervous system
2) Confidence 0.73 Published 2007 Journal World J Surg Oncol Section Body Doc Link PMC2169240 Disease Relevance 1.93 Pain Relevance 0.05
The normal VHL gene produces two proteins with similar biochemical and functional behaviour, both are addressed as pVHL.
Gene_expression (produces) of VHL associated with syndrome
3) Confidence 0.73 Published 2007 Journal World J Surg Oncol Section Body Doc Link PMC2169240 Disease Relevance 2.40 Pain Relevance 0.03
The VHL protein (pVHL) is widely expressed in normal human tissues, not only confounded to organs at risk for VHL disease [10,16].
Gene_expression (expressed) of VHL protein associated with syndrome and disease
4) Confidence 0.73 Published 2007 Journal World J Surg Oncol Section Body Doc Link PMC2169240 Disease Relevance 2.16 Pain Relevance 0.04
The VHL protein (pVHL) is widely expressed in normal human tissues, not only confounded to organs at risk for VHL disease [10,16].
Gene_expression (expressed) of pVHL associated with syndrome and disease
5) Confidence 0.73 Published 2007 Journal World J Surg Oncol Section Body Doc Link PMC2169240 Disease Relevance 2.15 Pain Relevance 0.04
who do not have a detectable VHL germline mutation, somatic mosaicism
Neg (not) Gene_expression (detectable) of VHL in germline
6) Confidence 0.68 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.73 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).
Gene_expression (overproduction) of VHL associated with hypoxia and renal cell carcinoma
7) Confidence 0.67 Published 2010 Journal Cancer management and research Section Body Doc Link PMC3004583 Disease Relevance 0.96 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
Gene_expression (mutation) of VHL associated with syndrome and disease
8) Confidence 0.67 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.66 Pain Relevance 0
premature-termination mutations that cause total loss of pVHL function,
Gene_expression (function) of pVHL
9) Confidence 0.67 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.57 Pain Relevance 0
Since the detection rate for VHL gene mutations is nearly 100%, molecular testing
Gene_expression (mutations) of VHL
10) Confidence 0.67 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.49 Pain Relevance 0
Prior to 2000, three different familial and syndromic diseases were known to result in PGL and/or PH: MEN-2 induced by germline inactivating mutations in the RET proto-oncogene; VHL disease due to mutations in the tumor suppressor gene VHL; and NF1 caused by mutations in the NF1 gene.
Gene_expression (disease) of VHL in germline associated with cancer, paraganglioma, watson syndrome, disease and pheochromocytoma
11) Confidence 0.65 Published 2006 Journal Orphanet J Rare Dis Section Body Doc Link PMC1702343 Disease Relevance 2.30 Pain Relevance 0.07
Candidate tumor suppressor genes include those on chromosomes 1p, 1q, 3p14, 3p21.3, 3p25 (VHL gene), 5q21 (APC/MCC gene cluster), 9p21-22 (interferon gene cluster), 11p, 13q (rb gene), 16p24, and 17p (p53 gene).
Gene_expression (16p24) of VHL associated with cancer
12) Confidence 0.65 Published 1993 Journal Chest Section Abstract Doc Link 8462339 Disease Relevance 0.60 Pain Relevance 0.18
The normal VHL gene produces two proteins with similar biochemical and functional behaviour, both are addressed as pVHL.
Gene_expression (produces) of pVHL associated with syndrome
13) Confidence 0.64 Published 2007 Journal World J Surg Oncol Section Body Doc Link PMC2169240 Disease Relevance 2.48 Pain Relevance 0.04
The VHL protein (pVHL) is widely expressed in normal human tissues, not only confounded to organs at risk for VHL disease [10,16].
Gene_expression (The) of VHL protein associated with syndrome and disease
14) Confidence 0.64 Published 2007 Journal World J Surg Oncol Section Body Doc Link PMC2169240 Disease Relevance 2.16 Pain Relevance 0.04
The VHL protein (pVHL) is widely expressed in normal human tissues, not only confounded to organs at risk for VHL disease [10,16].
Gene_expression (The) of pVHL associated with syndrome and disease
15) Confidence 0.64 Published 2007 Journal World J Surg Oncol Section Body Doc Link PMC2169240 Disease Relevance 2.16 Pain Relevance 0.04
The expression results for the genes JUN (c-jun) and VHL (von Hippel-Lindau) did not match the literature [18,19].
Gene_expression (expression) of VHL
16) Confidence 0.62 Published 2002 Journal BMC Bioinformatics Section Body Doc Link PMC130042 Disease Relevance 1.14 Pain Relevance 0
The level of mutation detection obtained by molecular genetic testing of the VHL makes it possible
Gene_expression (testing) of VHL
17) Confidence 0.59 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.95 Pain Relevance 0
of an undetected VHL (or other) gene mutation, and the potential need for some
Gene_expression (undetected) of VHL
18) Confidence 0.59 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.60 Pain Relevance 0
entire VHL spectrum, including pheochromocytomas with or without RCC, called
Gene_expression (spectrum) of VHL associated with pheochromocytoma
19) Confidence 0.59 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 0.60 Pain Relevance 0
to effectively rule out VHL syndrome with a high degree of certainty in
Gene_expression (syndrome) of VHL associated with syndrome
20) Confidence 0.59 Published 2008 Journal Advances in Urology Section Body Doc Link PMC2581790 Disease Relevance 1.02 Pain Relevance 0

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