Friday, January 31, 2025

How many diseases are linked to specific genes?

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How many diseases have genes associated with their malfunctions? Check back on the links below and watch the numbers go up throughout the course!
  • HERE is a periodically-updated list. As of 14 years ago (Jan 27, 2011), 2949 diseases were known with "Phenotype description, molecular basis known: Total". Today (Jan 31, 2025), it's 6943 diseases—an average increase of about a new one discovered per day!
  • How many disease genes are there? See "Total number of genes with phenotype-causing mutation" here. As of Jan 31, 2025, it's 4958 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 discoveries made in the past month. HERE's how they're discovered.