INT214056

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Context Info
Confidence 0.43
First Reported 2007
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 3
Total Number 3
Disease Relevance 3.44
Pain Relevance 0.09

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

methyltransferase activity (NSD1) chromosome (NSD1) nucleus (NSD1)
NSD1 (Homo sapiens)
Pain Link Frequency Relevance Heat
Clonidine 1 90.80 High High
Bioavailability 5 5.00 Very Low Very Low Very Low
anesthesia 4 5.00 Very Low Very Low Very Low
Somatostatin 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Sotos Syndrome 54 98.44 Very High Very High Very High
Recurrence 4 96.80 Very High Very High Very High
Syndrome 44 89.60 High High
Neuroblastoma 6 81.64 Quite High
Teratoma 4 80.92 Quite High
Cancer 16 77.92 Quite High
Precursor Cell Lymphoblastic Leukemia-lymphoma 2 74.68 Quite High
Acromegaly 2 74.48 Quite High
Homocystinuria 2 74.00 Quite High
Marfan Syndrome 2 73.36 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The report of a child with Sotos syndrome and a t(5;8)(q35;q24.1) translocation [37], has led to identification of the NSD1 gene, which was disrupted by the 5q35 breakpoint (Nuclear receptor SET domain containing protein) [4].
Negative_regulation (disrupted) of NSD1 associated with sotos syndrome
1) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2018686 Disease Relevance 1.43 Pain Relevance 0
Chromosome analysis of both parent needs to be performed when a deletion of NSD1 is detected in the affected child.
Negative_regulation (deletion) of NSD1
2) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2018686 Disease Relevance 1.76 Pain Relevance 0
Neurosecretory dysfunction (NSD) was diagnosed in children with normal results of stimulating tests but decreased nocturnal GH secretion (that observation had to be confirmed by documenting decreased GH secretion in prolonged, 6-hour nocturnal profile).
Negative_regulation (decreased) of NSD
3) Confidence 0.02 Published 2010 Journal Thyroid Res Section Body Doc Link PMC2858102 Disease Relevance 0.26 Pain Relevance 0.09

General Comments

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