IDDB

IDDB curates genetic and clinical data on human infertility to support analysis of genetic determinants and clinical characteristics of reproductive disorders.

Key Features:

• Comprehensive Gene Repository: Contains 307 genes associated with human infertility and 1348 genes linked to reproductive disorders across nine model organisms.
• Chromosomal Abnormalities Data: Documents 202 chromosomal abnormalities contributing to human infertility, including aneuploidies and structural variants.
• Pathogenic Variants Collection: Aggregates 2078 pathogenic variants from patient samples associated with 60 diseases causing infertility.
• Clinical Characteristics Documentation: Links causative variants with laboratory indices and clinical manifestations from diagnosed infertility patients.

Scientific Applications:

• Genetic mechanism research: Facilitates investigation of genetic mechanisms underlying infertility using gene and variant data across humans and model organisms.
• Clinical interpretation and diagnosis: Supports clinical interpretation by associating pathogenic variants and chromosomal abnormalities with patient laboratory indices and clinical manifestations.
• Translational research: Enables linking disease phenotypes with genetic determinants to inform treatment strategies and translational studies.

Methodology:

Data were compiled via rigorous manual curation involving systematic collection and organization of genes, chromosomal abnormalities, pathogenic variants, and clinical characteristics.