Mapping human disease-associated enzymes into Reactome allows characterization of disease groups and their interactions

According to databases such as OMIM, Humsavar, Clinvar and Monarch, 1494 human enzymes are presently associated to 2539 genetic diseases, 75% of which are rare (with an Orphanet code). The Mondo ontology initiative allows a standardization of the disease name into specific codes, making it possible...

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Detalles Bibliográficos
Autores principales: Savojardo, Castrense, Baldazzi, Davide, Babbi, Giulia, Martelli, Pier Luigi, Casadio, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9605996/
https://www.ncbi.nlm.nih.gov/pubmed/36289281
http://dx.doi.org/10.1038/s41598-022-22818-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9605996/
https://www.ncbi.nlm.nih.gov/pubmed/36289281
http://dx.doi.org/10.1038/s41598-022-22818-5

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