A resource to explore the discovery of rare diseases and their causative genes

wikidata 2022-08-06

Summary:

Here, we describe a dataset with information about monogenic, rare diseases with a known genetic background, supplemented with manually extracted provenance for the disease itself and the discovery of the underlying genetic cause. We assembled a collection of 4166 rare monogenic diseases and linked them to 3163 causative genes, annotated with OMIM and Ensembl identifiers and HGNC symbols. The PubMed identifiers of the scientific publications, which for the first time described the rare diseases,...

Link:

https://pubmed.ncbi.nlm.nih.gov/33947870/?utm_source=Other&utm_medium=rss&utm_campaign=pubmed-2&utm_content=1VSjW0JqT_vVo4exSnaEa8DS8viTn4bOW9m_0JY8UcVGX5Esjj&fc=20220129234853&ff=20220806012335&v=2.17.7

From feeds:

📚BioDBS Bibliography » wikidata

Tags:

Authors:

Friederike Ehrhart, Egon L Willighagen, Martina Kutmon, Max van Hoften, Leopold M G Curfs, Chris T Evelo

Date tagged:

08/06/2022, 01:23

Date published:

05/05/2021, 06:00