PathoPhenoDB

PathoPhenoDB is a comprehensive and freely accessible database that provides detailed information about the pathogenicity and phenotypic details of human genetic variants. The database is designed to facilitate the study of disease-associated genetic variants and their corresponding phenotypes, thereby aiding in the understanding and treatment of genetic diseases.

Overview

PathoPhenoDB is a unique resource that combines data from various sources to provide a comprehensive view of the pathogenicity and phenotypic effects of human genetic variants. The database includes information on the genetic variant, its associated disease, the evidence supporting its pathogenicity, and the observed phenotypic effects.

Content

The content of PathoPhenoDB is derived from multiple sources, including ClinVar, Human Phenotype Ontology (HPO), and Orphanet. The database includes information on over 200,000 genetic variants associated with more than 10,000 diseases. Each entry in the database includes the following information:

• The genetic variant and its associated disease
• The evidence supporting the pathogenicity of the variant
• The observed phenotypic effects of the variant
• References to the original sources of the information

Usage

PathoPhenoDB can be used by researchers and clinicians to study the pathogenicity and phenotypic effects of human genetic variants. The database can be used to identify potential targets for therapeutic intervention, to predict the phenotypic effects of genetic variants, and to understand the genetic basis of diseases.

See Also

• ClinVar
• Human Phenotype Ontology (HPO)
• Orphanet

External Links

• PathoPhenoDB Official Website

PathoPhenoDB Resources
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