Loci associated with phenotypes but no corresponding sequence data

The completion of the human genome sequencing project resulted in the availability of sequence data for many human diseases and other traits. Some users, however, might be interested in identifying loci that are associated with a known phenotype but not yet associated with sequence data, because these loci might be of interest as possible research topics.

The Properties field of Entrez Gene enables you to retrieve such loci, as well as loci with a variety of other attributes.

• open Entrez Gene - retrieve all human loci associated with only a phenotype and no corresponding sequence data



1. select the Preview/Index option beneath the search box.
   At the bottom of the Preview/Index page:
2. select the Organism field from the pop-up menu and enter human in the text box next to the search field menu.
   Then press the AND button to add that term and search field to the active query at the top of the page
3. select the Properties field from the pop-up menu and enter "phenotype only" (with or without quotes) in the adjacent text box.
   Press the AND button to add that term to the active query.
4. press Go

Complex Boolean query

The search can be done in a single step by entering the search as a complex Boolean query. For example:

human[orgn] AND "phenotype only"[prop]

Browse Index of Properties field

To see the other locus attributes that can be included in searches, you can use the Index function to browse the index of the Properties field. Just select that field from the pop-up menu at the bottom of the Preview/Index page and press the Index button. Leave the adjacent text box blank if you'd like to start browsing from the first term in the index, or enter a word stem (e.g., pheno) before pressing the Index button if you want to jump to a specific part of the index. You can select one or more terms of interest from the index, then use the desired Boolean button (AND, OR, NOT) to add them to the active query at the top of the page.