About This Database
Learn how to use the database, understand core concepts, and explore our technical architecture
How to Use This Database
Search & Browse Genes
Navigate to the Gene Browser to search curated kidney disease genes by symbol, HGNC ID, or disease association.
Understanding Evidence Scores
Evidence scores reflect confidence in gene-disease associations based on multiple authoritative sources. Higher scores indicate stronger evidence from multiple independent sources.
Exploring Annotations
Each gene includes rich annotations from multiple sources: HGNC (nomenclature), gnomAD (constraint), ClinVar (variants), HPO (phenotypes), GTEx (expression), Descartes (single-cell), MPO/MGI (mouse models), STRING (interactions), and PubTator (literature).
API Access & Export
Access data programmatically via our JSON:API compliant REST API. Visit /docs for interactive API documentation.
Core Concepts
Gene Staging System
Two-stage data ingestion ensures quality: genes first enter a staging area for normalization and validation, then move to curated status after passing quality checks.
Multi-Source Integration
Aggregates evidence from multiple authoritative sources with automatic retry logic and cache validation. Each source contributes unique annotations: nomenclature, constraint scores, variants, phenotypes, expression, interactions, and literature.
Evidence Scoring
Weighted scoring algorithm aggregates evidence from multiple sources to produce a confidence score (0-100). Scores are dynamic and update automatically as new evidence becomes available from our data sources.
High-Performance Architecture
Non-blocking architecture with L1/L2 caching (memory + database) delivers fast response times for cached requests. ThreadPoolExecutor ensures event loop never blocks during heavy operations.
Quality Assurance
Comprehensive quality checks at every stage: retry logic prevents transient failures, cache validation ensures data integrity, and audit trails track all normalization attempts in the gene staging table.
Real-Time Progress Tracking
WebSocket connections provide real-time updates during pipeline operations without page refresh or polling. Watch genes flow from staging to curation with live progress bars and status updates.
Open Source & Documentation
Source Code & Issues
This project is open source (MIT License). View source code, report issues, or contribute on GitHub.
View on GitHubTechnical Documentation
Comprehensive technical documentation covering architecture, API reference, development guides, and troubleshooting.
View Documentation