INT228618

Context Info Confidence 0.77 First Reported 2008 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 4 Total Number 5 Disease Relevance 3.70 Pain Relevance 0

signal transduction (EXT1) transferase activity, transferring glycosyl groups (EXT1) Golgi apparatus (EXT1) endoplasmic reticulum (EXT1)

Anatomy Link Frequency liver 1 limb buds 1 EXT1 (Homo sapiens)

Pain Link Frequency Relevance Heat Pain 30 5.00 imagery 10 5.00 Spinal cord 3 5.00 Arthritis 3 5.00 medulla 3 5.00 positron emission tomography 3 5.00 palliative 2 5.00

Disease Link Frequency Relevance Heat Chondrosarcoma 42 99.90 Osteochondroma 141 99.80 Cancer 180 99.12 Recurrence 8 97.72 Hepatocellular Cancer 80 93.36 Cirrhosis 14 88.00 Liver Disease 26 85.04 Multiple Hereditary Exostoses 135 82.40 Cleidocranial Dysplasia 9 68.24 Malignant Neoplastic Disease 52 13.20

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Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

In osteochondromas and peripheral chondrosarcomas the expression of EXT1 and/or EXT2 is decreased, corresponding to the mutation status [47].

Gene_expression (expression) of EXT1 associated with chondrosarcoma and osteochondroma

1) Confidence 0.77 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2276198 Disease Relevance 0.77 Pain Relevance 0

A high level of expression of Ext1 and Ext2 mRNA has been found in developing limb buds of mouse embryos [44,45] and expression was demonstrated to be confined to the proliferating and prehypertrophic chondrocytes of the growth plate [46].

Gene_expression (expression) of Ext1 in limb buds

2) Confidence 0.67 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2276198 Disease Relevance 0.77 Pain Relevance 0

In osteochondromas in which EXT expression is decreased due to mutation or deletion, the heparan sulphate proteoglycans seem to accumulate in the cytoplasm of the cell, instead of being transported to be expressed at the cell surface [47].

Gene_expression (expression) of EXT associated with osteochondroma

3) Confidence 0.59 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2276198 Disease Relevance 0.30 Pain Relevance 0

Since TTV can be used to reflect the status of tumor burden, it is not surprising that a larger TTV is expected to be more often associated with a higher AFP level and vascular invasion.

Gene_expression (expected) of TTV associated with cancer

4) Confidence 0.36 Published 2010 Journal BMC Gastroenterol Section Body Doc Link PMC3022616 Disease Relevance 1.20 Pain Relevance 0

This cutoff is considered appropriate for clinical application because TTV <50 cm3 is within the Milan criteria, suggesting the risk of tumor recurrence is very low after liver transplantation or partial hepatectomy [9,27].

Gene_expression (is) of TTV in liver associated with cancer and recurrence

5) Confidence 0.36 Published 2010 Journal BMC Gastroenterol Section Body Doc Link PMC3022616 Disease Relevance 0.65 Pain Relevance 0

General Comments

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