Gene2Phenotype: A Database of Structured Human Monogenic Diseases and Pathomechanisms

Area of Science:

• Genomics
• Medical Genetics
• Bioinformatics

Background:

• Accessible, structured data models are crucial for understanding genetically determined diseases and advancing personalized medicine.
• Gene2Phenotype, established in 2012, curates monogenic gene-disease associations to aid in prioritizing diagnostic genomic variants.
• The database initially focused on developmental disorders but has expanded to include cardiac, eye, skeletal, skin disorders, and germline cancer predisposition.

Purpose of the Study:

• To redesign and extend the Gene2Phenotype database for improved accessibility, standardization, and interoperability of rare monogenic disease data.
• To provide detailed, structured models of genotype, molecular mechanism, and phenotypes for rare monogenic diseases.
• To enhance the findability, accessibility, interoperability, and reusability of gene-disease association data through a new API.

Main Methods:

• Expert curation of gene-disease associations from scientific literature.
• Redesign and extension of the existing Gene2Phenotype database.
• Development of a new API for programmatic access to standardized data.

Main Results:

• Open sharing of standardized, structured models for rare monogenic diseases.
• Inclusion of genotype, molecular mechanism, and phenotype details.
• Improved data accessibility, interoperability, and reusability via the updated platform and API.

Conclusions:

• The enhanced Gene2Phenotype platform provides valuable, structured data to accelerate disease research and clinical applications.
• These data support efficient clinical diagnosis, treatment selection, and the development of targeted therapies for rare monogenic diseases.
• The database serves as a key resource for researchers and clinicians in the field of rare genetic disorders.