INT216380

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Context Info
Confidence 0.78
First Reported 2007
Last Reported 2010
Negated 4
Speculated 1
Reported most in Body
Documents 49
Total Number 53
Disease Relevance 15.63
Pain Relevance 1.22

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

cell differentiation (PAX6) nucleolus (PAX6) nucleus (PAX6)
DNA binding (PAX6) transcription factor binding (PAX6) cytoplasm (PAX6)
Anatomy Link Frequency
eye 5
corneal epithelium 4
retina 2
brain 2
neural 2
PAX6 (Homo sapiens)
Pain Link Frequency Relevance Heat
Spinal cord 53 95.48 Very High Very High Very High
Central nervous system 104 92.44 High High
Dopamine 27 78.80 Quite High
imagery 226 76.48 Quite High
gABA 29 74.56 Quite High
nMDA receptor 12 67.84 Quite High
tolerance 8 60.72 Quite High
Neurotransmitter 14 60.32 Quite High
antagonist 16 54.40 Quite High
Action potential 24 52.72 Quite High
Disease Link Frequency Relevance Heat
Cancer 423 99.76 Very High Very High Very High
Glioma 57 99.76 Very High Very High Very High
Aniridia 848 99.56 Very High Very High Very High
Anaplastic Astrocytoma 7 99.32 Very High Very High Very High
Infertility 8 98.58 Very High Very High Very High
Eye Malformation 73 98.52 Very High Very High Very High
Neurodegenerative Disease 22 97.24 Very High Very High Very High
Glioblastoma 28 96.52 Very High Very High Very High
Congenital Anomalies 491 96.48 Very High Very High Very High
Cerebellar Diseases 189 95.72 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
PAX6 expresses during the early steps of photoreceptor development, and acts as an activator of proneural genes in terms of the promotion of progenitor proliferation, maintenance of progenitor potential, and cell fate specification.
Gene_expression (expresses) of PAX6 in photoreceptor
1) Confidence 0.78 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2855731 Disease Relevance 0.27 Pain Relevance 0
Mutation would be predicted to result in proteins with dominant negative functions or novel functions, which could have profound effects on the development of the tissues where PAX6 is normally expressed.
Gene_expression (expressed) of PAX6
2) Confidence 0.78 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2855731 Disease Relevance 0.23 Pain Relevance 0
PAX6 and PTEN expression levels are deemed to be two independent and powerful prognostic markers for the outcome of patients with astrocytic malignant gliomas (24).
Gene_expression (expression) of PAX6 associated with glioma
3) Confidence 0.78 Published 2010 Journal Brain Pathology (Zurich, Switzerland) Section Body Doc Link PMC2991767 Disease Relevance 1.51 Pain Relevance 0.04
This observation is consistent with data collected in studies of the Sey (Small eye) mouse, showing that Pax6 is produced in cerebellar granule cells and that PAX6 influences the morphogenesis of the whole cerebellum.
Gene_expression (produced) of Pax6 in cerebellum
4) Confidence 0.77 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.99 Pain Relevance 0.06
The PAX6 master gene is early expressed in the anterior neural plate from which the hypothalamopituitary axis and the retina are derived.
Gene_expression (expressed) of PAX6 in anterior neural plate
5) Confidence 0.77 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.34 Pain Relevance 0.03
Given the PAX6 gene expression pattern both in mouse and human during development and adulthood, it is not surprising that such mutations can trigger neurodevelopmental defects associated with permanent neurological deficiencies in adults, including anterior commissure hypoplasia, absent pineal gland (IV-5), static cerebellar syndrome (IV-8), and moderate to severe pyramidal syndrome as observed in our patients (IV-8).
Gene_expression (expression) of PAX6 in anterior commissure associated with cerebellar diseases and syndrome
6) Confidence 0.77 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.82 Pain Relevance 0.05
Upon completion of eye development, PAX6 expression remains in the neural retina, the lens epithelium, and the cornea.
Gene_expression (expression) of PAX6 in lens epithelium
7) Confidence 0.77 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.06 Pain Relevance 0
This phenotype can be explained by the expression of the PAX6 gene in the hypothalamus.
Gene_expression (expression) of PAX6 in hypothalamus
8) Confidence 0.77 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.36 Pain Relevance 0
PAX6 is expressed in the developing iris, lens, ciliary body, corneal epithelium, and retina.
Gene_expression (expressed) of PAX6 in corneal epithelium
9) Confidence 0.77 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.05 Pain Relevance 0
However, PAX6 expression is not restricted to the eye.
Gene_expression (expression) of PAX6 in eye
10) Confidence 0.77 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.15 Pain Relevance 0.04
Furthermore, in combination with additional transcription factors, the level and spatial distribution of PAX6 expression in the developing eye are important for the establishment of the eye axes.
Gene_expression (expression) of PAX6 in eye
11) Confidence 0.77 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.07 Pain Relevance 0.03
For example, PAX2-PAX6 is critical in defining the optic stalk/optic cup boundary, while PAX6-cVAX and TBX5 expression mediates dorsoventral patterning of the eye [5].
Gene_expression (expression) of PAX6 in patterning
12) Confidence 0.77 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.09 Pain Relevance 0.03
In lymphocytes, the deletion within PAX6 spanned from between exons 6 and 7 to the 5?
Gene_expression (deletion) of PAX6 in lymphocytes
13) Confidence 0.68 Published 2010 Journal Brain Pathology (Zurich, Switzerland) Section Abstract Doc Link PMC2991767 Disease Relevance 0.90 Pain Relevance 0
Therefore, it seemed that in the tumor cells, the PAX6 deletion extends more to 3?
Gene_expression (deletion) of PAX6 associated with cancer
14) Confidence 0.68 Published 2010 Journal Brain Pathology (Zurich, Switzerland) Section Body Doc Link PMC2991767 Disease Relevance 0.49 Pain Relevance 0
LOH analysis around PAX6 locus
Gene_expression (locus) of PAX6
15) Confidence 0.68 Published 2010 Journal Brain Pathology (Zurich, Switzerland) Section Body Doc Link PMC2991767 Disease Relevance 0.60 Pain Relevance 0
This residue is in the PAX6 PD linker region (residues 64 to 79) connecting the NTS and the CTS.
Gene_expression (connecting) of PAX6
16) Confidence 0.67 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.26 Pain Relevance 0
Although PAX6 appears to be the major, and maybe even the only, gene involved in autosomal dominant aniridia, other aniridia clinical forms may be due to yet to be identified genes.
Gene_expression (appears) of PAX6 associated with aniridia
17) Confidence 0.67 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.36 Pain Relevance 0
The data that rosettes express multiple early neural cell markers SOX1, PAX6 and NESTIN and efficiently differentiate into neurons and glia cells suggests that the neural rosette cells obtained in our protocol are multipotential neural progenitors with similar characteristic to those obtained with methods including EBs [36].
Gene_expression (express) of PAX6 in neural
18) Confidence 0.64 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2346555 Disease Relevance 0 Pain Relevance 0.03
In theory, the p.Asn17Lys mutation would be expected to influence the function of PAX6 protein if it is expressed.
Gene_expression (expressed) of PAX6
19) Confidence 0.60 Published 2010 Journal Molecular Vision Section Body Doc Link PMC2855731 Disease Relevance 0.14 Pain Relevance 0
PAX6 is a transcription factor that is involved in multiple developmental pathways and is expressed early in the development of the eye, numerous regions of the brain and the pancreas (14).
Gene_expression (expressed) of PAX6 in pancreas
20) Confidence 0.60 Published 2010 Journal Brain Pathology (Zurich, Switzerland) Section Body Doc Link PMC2991767 Disease Relevance 1.15 Pain Relevance 0.10

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