This bot is part of a family of bots to capture and maintain Genes, Diseases and Drugs in Wikidata. The objective of this sub-bot is to insert and maintain information about relationships between genes and diseases.
For all of these properties, the domain is a gene and the range is a disease. If you stick Gene A in front and Disease B behind the relation it should almost form a sentence. In case its not clear, \ in front of term means it has children, + means it does not yet.
\--geneDiseaseAssociation \--alteredExpressionAssociation +--decreased expression in +--increased expression in +--altered regulation leads to \--genetic association \--mutationAssociation +--gene deletion association with +--gene duplication association with +--gene insertion association with +--gene inversion association with +--gene substitution association with +--posttranslational modification association with
Examples for modeling
According to OMIM:
- deletion mutation in a human gene that causes a disease (Q19888172)
- genetic association between a human gene and a disease from [Phenocarta](http://chibi.ubc.ca/Gemma/neurocartaStatistics.html):
Data Source: GWAS_Catalog Gene NCBI: 4477 Gene Symbol: MSMB Taxon: human Phenotype Names: prostate cancer Phenotype URIs: http://purl.obolibrary.org/obo/DOID_10283 Pubmeds: 24753544 Web Link: http://www.genome.gov/gwastudies/index.cfm?gene=MSMB Is Negative: No Note: Disease/Trait: Prostate cancer; Initial Sample Description: 1,146 European ancestry cases, 1,804 European ancestry controls; Replication Sample Description: 1,854 European ancestry cases, 1,437 European ancestry controls; Strongest SNP-Risk Allele: rs10993994-T; SNPs: rs10993994; Context: nearGene-5; Risk Allele Frequency: NR; p-Value: 3E-26; OR or beta: .40; Platform [SNPs passing QC]: Illumina [514,432] (Imputed)