INT61993

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Context Info
Confidence 0.78
First Reported 1996
Last Reported 2010
Negated 1
Speculated 0
Reported most in Body
Documents 29
Total Number 29
Disease Relevance 34.47
Pain Relevance 1.23

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

pigmentation (NF1) signal transduction (NF1) nucleus (NF1)
intracellular (NF1) extracellular matrix organization (NF1) cytoplasm (NF1)
Anatomy Link Frequency
germline 2
Schwann cells 2
thorax 1
AV canal 1
arterioles 1
NF1 (Homo sapiens)
Pain Link Frequency Relevance Heat
Spinal cord 6 95.00 High High
epidural 1 91.12 High High
Pain 27 89.08 High High
Catecholamine 61 87.00 High High
cytokine 2 86.72 High High
Angina 13 63.52 Quite High
Antihistamine 1 61.76 Quite High
cva 3 58.36 Quite High
anesthesia 19 56.08 Quite High
Snapping jaw 20 50.88 Quite High
Disease Link Frequency Relevance Heat
Stress 834 100.00 Very High Very High Very High
Cancer 465 100.00 Very High Very High Very High
Watson Syndrome 234 100.00 Very High Very High Very High
Disease 121 100.00 Very High Very High Very High
Pheochromocytoma 104 100.00 Very High Very High Very High
Cleidocranial Dysplasia 62 100.00 Very High Very High Very High
Paraganglioma 96 99.92 Very High Very High Very High
Benign Tumor 5 99.92 Very High Very High Very High
Neurofibroma 221 99.84 Very High Very High Very High
Anaplastic Astrocytoma 52 99.76 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The molecular basis of neurofibroma development in NF1 is loss of expression of the NF1 gene and its gene product, neurofibromin, resulting in elevated levels of Ras-guanosine triphosphate.
Gene_expression (expression) of NF1 associated with watson syndrome and neurofibroma
1) Confidence 0.78 Published 1996 Journal J. Neurosurg. Section Abstract Doc Link 8622163 Disease Relevance 1.66 Pain Relevance 0.08
The expressivity of NF1 is extremely variable, with manifestations ranging from mild lesions to several complications and functional impairment.
Gene_expression (expressivity) of NF1 associated with watson syndrome
2) Confidence 0.78 Published 2004 Journal Br Dent J Section Abstract Doc Link 15105854 Disease Relevance 1.26 Pain Relevance 0.07
A production of abnormal neurofibromin may also be related to the incidence of malignant peripheral nerve sheath tumor arising in neurofibromas [30].
Gene_expression (production) of neurofibromin in peripheral nerve associated with malignant neoplastic disease, cancer and neurofibroma
3) Confidence 0.75 Published 2010 Journal Diagn Pathol Section Body Doc Link PMC2954971 Disease Relevance 1.45 Pain Relevance 0
It has been suggested that the NF1 mutations produce abnormal neurofibromin, leading to increased levels of activating proteins (e.g., p21ras and p13) [29], which contribute to the cellular proliferation of Schwann cells associated with neurofibromas.
Gene_expression (produce) of neurofibromin in Schwann cells associated with neurofibroma and hyperplasia
4) Confidence 0.75 Published 2010 Journal Diagn Pathol Section Body Doc Link PMC2954971 Disease Relevance 1.52 Pain Relevance 0
A substantial body of evidence supports the hypothesis that neurofibromin, the NF1 gene product, has a role in cell growth and differentiation [1].
Gene_expression (product) of NF1 gene in body associated with watson syndrome
5) Confidence 0.67 Published 2010 Journal J Med Case Reports Section Body Doc Link PMC2823760 Disease Relevance 1.25 Pain Relevance 0
The mechanisms by which mutations of the NF1 gene produce these phenotypic effects are unknown, but understanding how they do so may provide an important clue to the pathogenesis of the more serious manifestations of NF1.
Gene_expression (produce) of NF1 gene associated with watson syndrome
6) Confidence 0.67 Published 2010 Journal J Med Case Reports Section Body Doc Link PMC2823760 Disease Relevance 0.89 Pain Relevance 0.07
These abnormalities of suppressor genes, except for NF1, are not present in neurofibromas.
Neg (not) Gene_expression (present) of NF1 associated with congenital anomalies, watson syndrome and neurofibroma
7) Confidence 0.67 Published 2010 Journal Diagn Pathol Section Body Doc Link PMC2881068 Disease Relevance 1.93 Pain Relevance 0
Akçali et al. reports that they observed NF1 along with thorax deformity in one patient (rate 2.3%) out of 43 cases [16].
Gene_expression (observed) of NF1 in thorax associated with watson syndrome
8) Confidence 0.67 Published 2010 Journal Patient Saf Surg Section Body Doc Link PMC2904278 Disease Relevance 1.30 Pain Relevance 0.43
The molecular basis of neurofibroma development in NF1 is loss of expression of the NF1 gene and its gene product, neurofibromin, resulting in elevated levels of Ras-guanosine triphosphate.
Gene_expression (product) of neurofibromin associated with watson syndrome and neurofibroma
9) Confidence 0.65 Published 1996 Journal J. Neurosurg. Section Abstract Doc Link 8622163 Disease Relevance 1.64 Pain Relevance 0.08
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 (/) of NF1 in germline associated with cancer, paraganglioma, watson syndrome, disease and pheochromocytoma
10) Confidence 0.60 Published 2006 Journal Orphanet J Rare Dis Section Body Doc Link PMC1702343 Disease Relevance 2.65 Pain Relevance 0.08
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 (caused) of NF1 in germline associated with cancer, paraganglioma, watson syndrome, disease and pheochromocytoma
11) Confidence 0.60 Published 2006 Journal Orphanet J Rare Dis Section Body Doc Link PMC1702343 Disease Relevance 2.44 Pain Relevance 0.07
The prevalence of NF1-CTD is relatively low.
Gene_expression (prevalence) of NF1 associated with cleidocranial dysplasia and watson syndrome
12) Confidence 0.59 Published 2005 Journal Health Qual Life Outcomes Section Body Doc Link PMC548287 Disease Relevance 0.90 Pain Relevance 0.05
There are five important research objectives of an NF1-CTD study that provide a context for applying the framework described in the Methods section:
Gene_expression (study) of NF1 associated with cleidocranial dysplasia and watson syndrome
13) Confidence 0.59 Published 2005 Journal Health Qual Life Outcomes Section Body Doc Link PMC548287 Disease Relevance 1.02 Pain Relevance 0.09
There is increasing evidence that loss of NF1 expression in neoplastic Schwann cells is associated with elevated levels of activated RAS, supporting the notion that the NF1 gene product, neurofibromin, acts as a growth regulator by inhibiting ras growth-promoting activity.
Gene_expression (product) of neurofibromin in Schwann cells associated with watson syndrome
14) Confidence 0.58 Published 2002 Journal Neurology Section Abstract Doc Link 12041525 Disease Relevance 1.18 Pain Relevance 0.16
The lower mean WSS in the latter arteries can be explained by the high peripheral resistance in these arteries at rest and is logical from a physiological point of view.
Gene_expression (explained) of WSS associated with stress
15) Confidence 0.57 Published 2008 Journal Med Biol Eng Comput Section Body Doc Link PMC2441533 Disease Relevance 1.02 Pain Relevance 0
The average WSS in mesenteric arterioles was found to be 1.82 Pa, with a range of 0.51–5.0 Pa, in rabbits [50], 4.71 ± 2.34 Pa (mean ± SD) in cats [31] and around 5 Pa, with a substantial variation, in rats, at least in arterioles larger than 15 ?
Gene_expression (found) of WSS in arterioles associated with stress
16) Confidence 0.57 Published 2008 Journal Med Biol Eng Comput Section Body Doc Link PMC2441533 Disease Relevance 0.43 Pain Relevance 0.05
In developing arterial systems WSS has been shown to be constant along the arterial system, at least in arteries with a diameter larger than about 60 ?
Gene_expression (constant) of WSS in arterial system associated with stress
17) Confidence 0.57 Published 2008 Journal Med Biol Eng Comput Section Body Doc Link PMC2441533 Disease Relevance 0.99 Pain Relevance 0
NF1 was present in 17.1% of the patients.
Gene_expression (present) of NF1
18) Confidence 0.57 Published 2010 Journal Radiat Oncol Section Body Doc Link PMC3009674 Disease Relevance 0.17 Pain Relevance 0
The close relationship to pilocytic astrocytoma is underscored by a report of two cases that occurred in the setting of neurofibromatosis type 1 (NF1).
Gene_expression (setting) of NF1 associated with anaplastic astrocytoma and watson syndrome
19) Confidence 0.52 Published 2007 Journal Acta Neuropathol Section Body Doc Link PMC1929165 Disease Relevance 1.44 Pain Relevance 0
The close relationship to pilocytic astrocytoma is underscored by a report of two cases that occurred in the setting of neurofibromatosis type 1 (NF1).
Gene_expression (setting) of neurofibromatosis type 1 associated with anaplastic astrocytoma and watson syndrome
20) Confidence 0.52 Published 2007 Journal Acta Neuropathol Section Body Doc Link PMC1929165 Disease Relevance 1.44 Pain Relevance 0

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