Prevalence of genetic disorders

Question

[Larson]

Hi there,

Can anyone point to me some data on the global prevalence of MOST genetic disorders (or at least 100 most frequent)? In particular, I am interested in monogenic diseases caused by short variants but actually anything will be helpful. In principle I just need disease name-prevalence info as I can associate the disease to a gene/mutation easily afterwards.

All I can find so far (and I have spent a fair amount of time on it) are information on up to 10-12 most common diseases, very rare diseases or databases related to a single particular disorder or gene. Any help appreciated!

[ATpoint]

Hello Larson!

We believe that this post does not fit the main topic of this site.

This is not bioinformatics-related. Better raise the question on Reddit or StackExchangeBiology.

For this reason we have closed your question. This allows us to keep the site focused on the topics that the community can help with.

If you disagree please tell us why in a reply below, we'll be happy to talk about it.

Cheers!

[Larson]

Well I always found answers to all kinds of biological questions in this forum, even if not strictly related to bioinformatics (there are many just looking at "Similar posts" when viewing mine). I just assumed that, since my question is related to data analysis, it's OK to post it here, sorry if I was wrong.

[Kevin Blighe]

This information is often highly variable and biased because studies can often be conducted on isolated / disparate population groups.

• WHO has information on some well studied genetic diseases: https://www.who.int/genomics/public/geneticdiseases/en/index2.html
• Genetic Disorders UK has another long listing: https://www.geneticdisordersuk.org/geneticdisordersdatabase/listing

[GenoMax]

Have you looked at OMIM?

Answer 1

[Jeremy Leipzig]

https://github.com/Orphanet/Orphadata.org has prevelance data on 9355 rare diseases