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FAQ

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.

Queries

1. Gene query - basic information about the gene

2. Query syndrome - CS* information of the syndrome and a link to find it's related syndromes.

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 linkage studies).

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)