Table 2 Components of the structured narrative describing the gene-disease mechanism
1. Gene name: HUGO Gene Nomenclature Committee (HGNC) gene symbols [27] | |
2. Associated disease: Monarch Disease Ontology (MONDO) terms [28] | |
3. Mode of inheritance: structured MONDO terms | |
(a) Autosomal dominant (HP:0000006) | |
(b) Autosomal recessive (HP:0000007) | |
(c) Mitochondrial (HP:0001427) | |
(d) X-linked (HP:0001417) | |
(e) Undetermined (HP:0000005) | |
4. Molecular mechanism of disease pathogenesis: | |
(a) Loss-of-function | |
(b) Gain-of-function | |
(c) Dominant-negative | |