|Search syndromes and related syndromes
|Search related genes |
|Create a group of phenotypes and search for its related syndromes |
The identification of genomic loci associated with human genetic
syndromes has been significantly facilitated through the generation of high
density SNP arrays. However, the identification of the specific disease-associated
genes within such loci is still a tedious labor-intensive bottleneck.
Optimal selection of candidate genes from within a defined genomic locus
is a crucial step in the process.
The software is based on two synergistic applications.
For any given syndrome, the software can seek all
syndromes containing similar
phenotypes. Genes associated with these syndromes are presented
for further analysis. The second step which can also be independent is to search
through the entire human genome for other
genes that are associated with selected genes.
A gene list is generated with an order of priority (degree of possible interaction
with the reference gene(s)).
This list can be filtered for specific genomic loci.
1. Gene query -
basic information about the gene
2. Query syndrome -
CS* information of the syndrome and a link to find it's related
3. Find related genes -
finding related genes using a query set of genes with the
ability of choosing (filtering) an area of the genome (using genes, SNP's or
chromosome and physical location) as the place to look for related genes (good for
4. Cross syndromes -
finding related syndromes using a set of chosen syndromes.
5. Query tree -
going over the MeSH entries tree to look for syndromes having CS
related to them.
6. Search phenotypes -
build an artificial syndrome which is a group of selected CS
phrases found in the database and find its related syndromes (good for unknown or
new syndromes and also for reducing the phenotypes from a known syndrome).
* CS - Clinical Synopsis (OMIM phenotypes)