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.

Filter by evidence score
Sort by any column

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.

95-100
Definitive
80-94
Strong
50-79
Moderate/Limited

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).

Multi-source annotations

API Access & Export

Access data programmatically via our JSON:API compliant REST API. Visit /docs for interactive API documentation.

JSON export
CSV export

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.

Staging: Raw data ingestion + HGNC normalization
Curated: Validated genes with complete annotations

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.

Comprehensive annotation coverage
Exponential backoff retry with circuit breaker

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.

Configurable source weights
Transparent calculation methodology

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.

High cache hit rates
WebSocket progress tracking (no polling)

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.

Automatic retry with exponential backoff
Cache validation (no empty responses)

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.

Stable WebSocket connections during processing
No blocking, no polling required

Open Source & Documentation

Source Code & Issues

This project is open source (MIT License). View source code, report issues, or contribute on GitHub.

View on GitHub

Technical Documentation

Comprehensive technical documentation covering architecture, API reference, development guides, and troubleshooting.

View Documentation