MIgene

MIgene curates an evidence-based database linking genes, variants, and standardized phenotypes associated with male infertility (MI), emphasizing spermatogenic failure, sperm abnormalities, and impaired semen quality, and highlighting genetic contributions that account for approximately 30% of MI cases.

Key Features:

• Comprehensive Data Integration: Aggregates evidence from 989 publications sourced from PubMed and Medline to consolidate gene–phenotype data related to male infertility.
• Extensive Information Repository: Contains entries for 664 genes, 68 standard phenotypes (categorized into 37 distinct groups), 3,606 mutants, and references from 7,985 studies, all extracted and curated from the literature.
• Phenotypic Variability Insights: Documents effects of non-exonic variants and how identical mutations can produce variable phenotypes across different clinical presentations and racial groups.
• Gene-Phenotype Association Analysis: Quantifies gene–phenotype associations via enrichment analyses based on principles of the hypergeometric distribution.

Scientific Applications:

• Clinical risk assessment and diagnosis: Provides aggregated genetic and phenotypic evidence to support early warning of disease risk and aid genetic diagnosis of male infertility.
• Genotype–phenotype research: Enables analysis of gene–phenotype relationships and enrichment-based association studies to advance research on spermatogenic failure and related sperm abnormalities.
• Personalized medicine: Supports interpretation of variant- and population-specific phenotype variability to inform individualized diagnostic and management considerations.

Methodology:

Data were consolidated from PubMed and Medline, with entries extracted, filtered, and curated using bioinformatics tools and manual methods, and gene–phenotype associations assessed by enrichment analysis using the hypergeometric distribution.