#RDAS - Rare Disease Alert System https://rdas.ncats.nih.gov/ ##1. description Rare Disease Alert System (RDAS) is an effort to aggregate and harmonize rare disease data from a multitude of sources and present it in a concise format. Publication, Funding, Trial and Epidemiological data are mapped and annotated to a common disease ontology. Users are also able to subscribe to receive email alerts when there is updated information available about a disease of interest. ##2. use cases/walkthroughs
##3. sample queries get diseases associated with a gene
MATCH (n:GARD)-[]-(g:Gene {GeneSymbol: "HTT"})
RETURN n.GardId, n.GardName, collect(g.GeneSymbol) LIMIT 25
get diseases associated with a gene, and other related genes
MATCH (n:GARD)-[]-(g:Gene) with collect (g.GeneSymbol) as genes, n
WHERE "HTT" IN genes
RETURN n.GardId, n.GardName, genes
LIMIT 25
get application ids for projects involving those diseases
MATCH p=(n:GARD)-[r:RESEARCHED_BY]-(pr:Project)
WHERE n.GardId IN ["GARD:0017965", "GARD:0010510","GARD:0006677"]
RETURN n.GardId, collect(pr.application_id)
##4.Sample inputs get diseases associated with a gene
query GardsfromGene {
gards(where: { associatedWithGeneGenes_SOME: { GeneSymbol: "HTT" } }) {
GardName
GardId
}
}
get diseases associated with a gene, and other related genes
query Genes {
genes(where: { GeneSymbol: "HTT" }) {
GeneSymbol
GeneTitle
gardSassociatedWithGene {
GardId
GardName
}
}
}
get application ids for projects involving those diseases
query Projects {
projects(
where: {
gardsresearchedBy_SOME: {
GardId_IN: ["GARD:0017965", "GARD:0010510", "GARD:0006677"]
}
}
) {
application_id
}
}
##5. Contact us ncatsrdas@mail.nih.gov