What are the GDA Score & VDA Score? (DISGENET Score)

Understanding the evidence behind gene-disease or variant-disease associations is crucial for genomic research. The DISGENET Score (also known as GDA Score and VDA Score) helps you go beyond simply knowing that an association exists, providing a quantitative measure of the strength and reliability of evidence.

What is the DISGENET Score?

The DISGENET Score ranks gene-disease associations (GDAs) and variant-disease associations (VDAs) based on the confidence you can place in them.

It considers:

• Number of supporting sources
• Reliability of each source
• Number of publications reporting the association
• Evidence from animal models

This allows you to focus on the most well-supported associations and prioritize your research efficiently.

How is the DISGENET Score Calculated?

Range: 0 to 1 (higher scores indicate stronger evidence)

Components taken into account:

• Expert-reviewed curated databases (CURATED): Such as ClinGen, ClinVar, Mouse Genome Database (MGD), Orphanet, Rat Genome Database (RGD), UniProt
• Research publications (LITERATURE): Scientific publications
• Animal models (MODELS): Evidence from mouse and rat models, including text-mined sources
• Indirect evidence (INFERRED): from genetic and phenotype analyses
• Clinical trials (TRIALS): Evidence from ClinicalTrials.gov

GDA Score Examples

Note: The examples provided are for illustrative purposes only. DISGENET is updated quarterly with the most up-to-date evidence. As a result, GDA and VDA Scores, as well as their underlying evidence, will change over time. This guide is intended to help you understand how to interpret the Score, not to provide the most current data.

LMX1B – Nail-Patella Syndrome (GDA Score = 1.0)

To see the DISGENET Score in action, let’s look at a concrete example: the association between the LMX1B gene and Nail-patella syndrome. This association has a GDA Score of 1.0, indicating very strong supporting evidence.

• High confidence: A GDA Score of 1.0 shows that this association is well-supported across multiple types of evidence, making it highly reliable for research or validation purposes.

• Evidence highlights: The majority of the confidence comes from curated sources (C = 0.7), showing strong expert validation, while the literature (L = 0.3) adds additional published support.

• Models and trials: Animal models contribute some support (M = 0.1), and clinical trials have not yet added evidence (T = 0)

GLI2 – Primary Congenital Glaucoma (GDA Score = 0.1)

To see how a low DISGENET Score looks in practice, let’s examine the association between the GLI2 gene and Primary congenital glaucoma. This association has a GDA Score of 0.1, indicating limited supporting evidence.

• Limited confidence: A GDA Score of 0.1 indicates that this association has very little supporting evidence and should be considered preliminary or exploratory.

• Evidence highlights: The only support comes from a single publication (L = 0.1), with no curated sources, animal models, inferred evidence, or clinical trials contributing.

• Research implication: Low-score associations like this can point to novel or underexplored links that may be worth further investigation in emerging research areas.

CARD10 – Primary Open-Angle Glaucoma (GDA Score = 0.6)

To illustrate a medium-confidence association, let’s examine the link between the CARD10 gene and Primary open-angle glaucoma. This association has a GDA Score of 0.6, reflecting moderate supporting evidence.

• Moderate confidence: A GDA Score of 0.6 indicates that this association has some supporting evidence.

• Evidence highlights: Most of the confidence comes from curated sources (C = 0.4), supplemented by a small number of publications (L = 0.2).

• Models and trials: No support is provided by animal models or clinical trials, so additional experimental or clinical validation may be warranted.

VDA Score

Like the GDA Score, the VDA Score evaluates variant-disease associations similarly:

• Focuses on curated sources for reliability
  
  
• Integrates genetic study results (e.g., GWAS, PheWAS) and text-mined publications
  
  
• Provides a weighted measure of evidence connecting a variant to a disease
  
  

Both GDA and VDA scores allow you to prioritize the most reliable associations while also identifying novel research opportunities.

Where to Find the DISGENET Score

The Web Interface

The GDA and VDA Scores are available directly in your search results. You can find them in:

• Summary Table: The first table displayed after typing your query into the search bar
• Evidence Table: The detailed table below the Summary table

Tip: The Score column is normally activated by default on the web platform.

If you don’t see the GDA or VDA Score in your table:

1. Click the “Select Columns” button above the table.

2. Select the checkboxes "ScoreGDA" or "ScoreVDA" to display the column.

You can also customize the table layout to make your workflow easier:

• Rearrange columns: Drag them left or right
  
  
• Lock important columns: Click the three lines icon on the column header and select “Lock Start” to keep a column fixed as the first one.