INT961

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Context Info
Confidence 0.53
First Reported 1979
Last Reported 2009
Negated 0
Speculated 0
Reported most in Body
Documents 3
Total Number 5
Disease Relevance 1.99
Pain Relevance 0.36

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

nuclear chromosome (ATRX) nucleus (ATRX) helicase activity (ATRX)
DNA binding (ATRX)
Anatomy Link Frequency
skeletal muscle 1
ATRX (Homo sapiens)
Pain Link Frequency Relevance Heat
Dopamine 4 93.84 High High
Clonidine 2 76.24 Quite High
Central nervous system 4 75.00 Quite High
anesthesia 3 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Syndrome 177 100.00 Very High Very High Very High
Recurrence 6 97.60 Very High Very High Very High
Cleidocranial Dysplasia 3 90.84 High High
Scoliosis 6 89.84 High High
Cognitive Disorder 6 85.92 High High
Clubfoot 15 79.44 Quite High
Congenital Anomalies 18 76.56 Quite High
Contracture 60 67.32 Quite High
Growth Problems 9 57.44 Quite High
Hypertelorism 3 28.32 Quite Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Methysergide, cyrpoheptadine, and p-chlorophenylalanine given intracerebroventricularly (ICV) or systemically significantly blocked SHS behavior induced by 10 mg/kg MA.
Positive_regulation (induced) of SHS
1) Confidence 0.53 Published 1979 Journal Psychopharmacology (Berl.) Section Abstract Doc Link 117484 Disease Relevance 0 Pain Relevance 0.15
Combined administration of L-5-hydroxytryptophan and peripheral decarboxylase inhibitor (Ro 4-4602) enhanced SHS behavior.
Positive_regulation (enhanced) of SHS
2) Confidence 0.38 Published 1979 Journal Psychopharmacology (Berl.) Section Abstract Doc Link 117484 Disease Relevance 0 Pain Relevance 0.22
SHS is caused by mutations in the genes that encode fast twitch skeletal muscle isoforms of troponin I (TNNI2) and troponin T (TNNT3), and embryonic myosin (MYH3) [5-7].
Positive_regulation (caused) of SHS in skeletal muscle associated with syndrome
3) Confidence 0.35 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2663550 Disease Relevance 0.92 Pain Relevance 0
After it became evident that SHS was caused by defects of the contractile apparatus of fast-twitch myofibers, we investigated whether SHS could be caused by mutations in genes that encode other proteins of the contractile apparatus [5].
Positive_regulation (caused) of SHS associated with syndrome
4) Confidence 0.35 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2663550 Disease Relevance 0.25 Pain Relevance 0
Therefore, it is reasonable to hypothesize that FSS is caused by defective kinase action, while SHS is caused by the instability of the protein complex.


Positive_regulation (caused) of SHS associated with syndrome
5) Confidence 0.35 Published 2009 Journal Orphanet J Rare Dis Section Body Doc Link PMC2663550 Disease Relevance 0.81 Pain Relevance 0

General Comments

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