Cargando…
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...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
|
| Materias: | |
| 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 |