Table 2.
Top targetable genetic diseases due to loss-of-function mutations
| Disease name | OMIM | Gene/Protein | Allosteric activators |
|---|---|---|---|
| Brugada syndrome 3 | 611875 | CACANA1C | BayK 8644, FPL64176 |
| Congenital amegakaryocytic thrombocytopenia | 604498 | MPL | PF |
| Frontal lobe nocturnal epilepsy 3 | 605375 | CHRNB2 | Desformylflustrabromine and others |
| Glycogen storage disease V | 232600 | PYGM | AMP and IMP |
| Glycogen storage disease VI | 232700 | PYGL | AMP and IMP |
| Hereditary pancreatitis | 167800 | CTRC | BisQ, Bis Q Benzyl |
| Homocystinuria due to cystathionine beta-sythease deficiency | 236200 | CBS | SAM |
| Hyperekplexia hereditary 1 | 149400 | GLRA1 | Ajulemic acid, Trifluoroacetate |
| Isolated growth hormone deficiency type III | 307200 | BTK | PIP3 |
| Lung cancer susceptibility | 612052 | CHRNA3 | rac-12 k, rac-14e |
| Muscle glycogen storage disease 0 | 611556 | GYS1 | Glc6P |
| Ovarian dysgenesis 1 | 233300 | FSHR | Ajulemic acid, Trifluoroacetate |
| Pigmented nodular adrenocortical disease | 610475 | PDE11A | Estradiol |
| Thrombocysthemia 2 | 601977 | MPL | PF |
Corresponding disease names, OMIM identifiers, mutated genes and known allosteric activators are listed. Allosteric activators are queried from the Allosteric Database. The rest of potential candidates can be found in Additional file 1: Table S8