INT148717

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Context Info
Confidence 0.34
First Reported 2005
Last Reported 2008
Negated 0
Speculated 0
Reported most in Body
Documents 6
Total Number 7
Disease Relevance 5.40
Pain Relevance 0.25

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

nucleoplasm (NR0B1) RNA binding (NR0B1) nucleus (NR0B1)
DNA binding (NR0B1) transcription factor binding (NR0B1) response to stress (NR0B1)
Anatomy Link Frequency
limb 1
NR0B1 (Homo sapiens)
Pain Link Frequency Relevance Heat
imagery 2 90.16 High High
depression 2 82.32 Quite High
Angina 2 77.48 Quite High
Migraine 6 5.00 Very Low Very Low Very Low
Pain 4 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Hypertrophic Cardiomyopathy 14 100.00 Very High Very High Very High
Disease 14 99.84 Very High Very High Very High
Congenital Anomalies 7 99.24 Very High Very High Very High
Cv General 4 Under Development 2 98.36 Very High Very High Very High
Stroke 2 97.28 Very High Very High Very High
Frailty 2 96.48 Very High Very High Very High
Rhinitis 2 95.56 Very High Very High Very High
Myositis 2 95.04 Very High Very High Very High
Aneurism 2 92.88 High High
Delayed Puberty 2 87.64 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
This case shows that AHC may take a mild course and be associated with a number of extracardiac abnormalities.
AHC Binding (associated) of associated with hypertrophic cardiomyopathy and congenital anomalies
1) Confidence 0.34 Published 2007 Journal J Cardiovasc Med (Hagerstown) Section Abstract Doc Link 18163025 Disease Relevance 2.24 Pain Relevance 0.16
DAX1 encoded by NR0B1, when mutated, is responsible for X-linked adrenal hypoplasia congenita (AHC). [21]
AHC Binding (linked) of
2) Confidence 0.29 Published 2005 Journal BMC Bioinformatics Section Body Doc Link PMC1090552 Disease Relevance 0.17 Pain Relevance 0
Apical hypertrophic cardiomyopathy (AHC) is associated with neurological abnormalities such as transient ischemic attack, stroke, limb-girdle muscular dystrophy, or eosinophilic myositis in single cases.
AHC Binding (associated) of in limb associated with rhinitis, hypertrophic cardiomyopathy, stroke, cv general 4 under development, congenital anomalies, frailty and myositis
3) Confidence 0.28 Published 2007 Journal J Cardiovasc Med (Hagerstown) Section Abstract Doc Link 18163025 Disease Relevance 1.84 Pain Relevance 0.09
Thus skewed X inactivation (deletion on the active maternal X chromosome with an inactive paternal X chromosome) is associated with AHC in a female.
AHC Binding (associated) of
4) Confidence 0.27 Published 2008 Journal Journal of Medical Genetics Section Abstract Doc Link PMC2602739 Disease Relevance 0.17 Pain Relevance 0
We report the first case of a girl with salt losing AHC, mild dystrophinopathy and GKD associated with confirmed skewing of X inactivation of variable degree in different tissues.
AHC Binding (associated) of
5) Confidence 0.26 Published 2008 Journal Journal of Medical Genetics Section Body Doc Link PMC2602739 Disease Relevance 0.60 Pain Relevance 0
Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NR0B1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive abnormalities later in life. [22]

Precision error analysis

AHC Binding (linked) of associated with congenital anomalies and disease
6) Confidence 0.26 Published 2005 Journal BMC Bioinformatics Section Body Doc Link PMC1090552 Disease Relevance 0.20 Pain Relevance 0
Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NR0B1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive abnormalities later in life. [22]

Precision error analysis

DAX1 Binding ([dosage) of associated with congenital anomalies and disease
7) Confidence 0.26 Published 2005 Journal BMC Bioinformatics Section Body Doc Link PMC1090552 Disease Relevance 0.19 Pain Relevance 0

General Comments

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