INT301355

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Context Info
Confidence 0.37
First Reported 2004
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 2
Total Number 3
Disease Relevance 4.07
Pain Relevance 0.03

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)
Ext1 (Mus musculus)
Pain Link Frequency Relevance Heat
imagery 3 57.52 Quite High
Pain 6 40.68 Quite Low
Inflammation 2 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Multiple Hereditary Exostoses 65 99.70 Very High Very High Very High
Syndrome 21 99.40 Very High Very High Very High
Osteopoikilosis 52 99.20 Very High Very High Very High
Melorheostosis 24 90.80 High High
Sarcoma 4 88.60 High High
Osteogenic Sarcomas 9 87.56 High High
Osteochondroma 40 86.56 High High
Disease 9 84.92 Quite High
Cancer 19 84.72 Quite High
Malignant Neoplastic Disease 17 83.92 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

Background

EXT1 Binding (mutations) of associated with osteopoikilosis and multiple hereditary exostoses
1) Confidence 0.37 Published 2010 Journal BMC Med Genet Section Title Doc Link PMC2912259 Disease Relevance 1.21 Pain Relevance 0
The patients affected with both LEMD3 and EXT1 gene mutations displayed typical features of the osteopoikilosis.
EXT1 Binding (affected) of associated with osteopoikilosis
2) Confidence 0.37 Published 2010 Journal BMC Med Genet Section Abstract Doc Link PMC2912259 Disease Relevance 1.53 Pain Relevance 0
Multiple Osteochondromas is an autosomal dominant disorder for which two genes have been isolated, Exostosin-1 (EXT1; OMIM 133700) located at 8q24 and Exostosin-2 (EXT2; OMIM 133701) located at 11p11-p12 [23-25]. 44-66% of the Multiple Osteochondroma families show linkage at the EXT1 region [26,27], compared to 27% for EXT2 [27].
EXT1 Binding (linkage) of associated with multiple hereditary exostoses
3) Confidence 0.31 Published 2004 Journal Hered Cancer Clin Pract Section Body Doc Link PMC2840003 Disease Relevance 1.32 Pain Relevance 0.03

General Comments

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