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Table 1 Examples of the top 5 words that occur in sentences where genes and diseases of the relations described in “Experimental data” section also occur

From: Automated assessment of biological database assertions using the scientific literature

 

Term

Frequency

Example

1

Mutation

26,020

Mutations of the PLEKHM1 gene have been identified as the cause of the osteopetrotic ia/ia rat. [PMID:22073305]

2

Express

5,738

RAD51 was reported to have a significantly increased expression in breast cancer. [PMID: 23977219]

3

Result

5,151

HTTASresults in homozygous HD cells. [PMID: 25928884]

4

Activate

4,454

FGFR2 has been shown to activate signal transduction leading to transformation in breast cancer. [PMID: 25333473]

5

Risk

4,423

RNF213 was recently identified as a major genetic risk factor for moyamoya disease. [PMID: 25964206 ]

  1. These words can be seen as approximating the semantics of the predicates linking the genes and the diseases. The PubMed ID (PMID) of the source article for each example is provided in brackets
  2. Words in bold represent entities involved in an assertion, i.e., the entities and the predicate