INT301360

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Context Info
Confidence 0.68
First Reported 2004
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 3
Total Number 4
Disease Relevance 1.01
Pain Relevance 0

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

transferase activity, transferring glycosyl groups (Ext1) Golgi apparatus (Ext1) endoplasmic reticulum (Ext1)
Anatomy Link Frequency
growth plate 1
reticulum 1
Ext1 (Mus musculus)
Pain Link Frequency Relevance Heat
Pain 8 26.88 Quite Low
imagery 6 5.00 Very Low Very Low Very Low
Inflammation 4 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Intellectual Impairment 6 98.68 Very High Very High Very High
Crouzon Syndrome 2 97.76 Very High Very High Very High
Multiple Hereditary Exostoses 110 95.40 Very High Very High Very High
Syndrome 30 93.92 High High
Enchondromatosis 4 74.60 Quite High
Exostoses 16 69.36 Quite High
Osteopoikilosis 52 64.16 Quite High
Osteoarthritis 6 55.28 Quite High
Hypopigmentation 6 47.60 Quite Low
Diabetes Mellitus 6 47.04 Quite Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
In the growth plate EXT1 and EXT2 are expressed in the proliferative and transition zone [77] (Fig. 5).
Gene_expression (expressed) of EXT1 in growth plate
1) Confidence 0.68 Published 2004 Journal Hered Cancer Clin Pract Section Body Doc Link PMC2840003 Disease Relevance 0.06 Pain Relevance 0
PCR amplifications of EXT1 gene were performed in a 20 ?
Gene_expression (gene) of EXT1
2) Confidence 0.67 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2912259 Disease Relevance 0.06 Pain Relevance 0
Presence of both LEMD3 and EXT1 variants was excluded among 81 and 247 healthy Polish and German controls respectively.
Gene_expression (Presence) of EXT1
3) Confidence 0.60 Published 2010 Journal BMC Med Genet Section Body Doc Link PMC2912259 Disease Relevance 0.27 Pain Relevance 0
The gene products of human EXT1 and EXT2 are endoplasmic reticulum localised type II transmembrane glycoproteins.
Gene_expression (products) of EXT1 in reticulum
4) Confidence 0.59 Published 2004 Journal Hered Cancer Clin Pract Section Body Doc Link PMC2840003 Disease Relevance 0.62 Pain Relevance 0

General Comments

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