Phenotypes

Purpose of Search

Retrieve a list of phenotypes in studies by searching for MeSH and HPO ontology terms.

Base URL

http://www.gwascentral.org/phenotypes

In addition to the common Search parameters, phenotype searches also have the following additional parameters:

Parameter Description Optional/Required Allowed values
pid Phenotype ontology identifiers Optional One or more MeSH or HPO identifier strings
page Page of results to retrieve Optional (default is 1) Depends on number of results
page_size Size of results page to retrieve Optional (default is 50) 20, 50, 100 or all

Data Content

Atom feeds provide the data for each entry in the ‘content’ tag as XML, while text-file formats/Excel provide it in columns.
The most pertinent fields available in each phenotype result are as follows

Name Description Example
name Phenotype method name Phenotype method for pancreatic cancer
description Phenotype method description Please refer to the original paper for details
identifier Phenotype method identifier HGVPM693
no_pvalues Number of p-values in associated experiment 3
phenotype_annotations Information related to a single phenotype ontology a phenotype is annotated to. Atom XML example:

<annotation_detail>"Schizophrenia" D012559</annotation_detail>
    <annotation_identifier>D012559</annotation_identifier>
    <annotation_label>Schizophrenia</annotation_label>
    <annotation_type>MeSH</annotation_type>
phenotypeproperty Phenotype property name Pancreatic cancer
resultsets Identifiers for those result sets in experiment HGVRS763
study_identifier Identifier of study containing phenotype HGVST407
study_name Name of study containing phenotype GWAS of pancreatic cancer

Examples

Ontology terms
Search for phenotypes in studies restricted to ontology terms matching ‘type II diabetes mellitus’ with -log p-values >=7, return JSON format:
http://www.gwascentral.org/phenotypes?q=type II diabetes mellitus&t=7&format=json&amp