How many diseases are linked to specific genes? How many disease genes are there?
Check back on the links below and watch the numbers go up throughout the course!
- How many diseases have genes associated with their malfunctions? Here is a periodically-updated list. As of 15 years ago (Jan 27, 2011), 2949 diseases were known with "Phenotype description, molecular basis known: Total". Today (Jan 26, 2026) it's 7091 diseases – an average increase of nearly a new one discovered per day!
- How many disease genes are there? See "Total number of genes with phenotype-causing mutation" here. As of today (Jan 26, 2026) it's 5045 genes.
Identifying a gene associated with a disease can be a big step toward developing both diagnostics and treatments. What kinds of genes are being discovered now? HERE is a link to news stories on some discoveries made recently. HERE's how they're discovered.
