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Table 2 Top targetable genetic diseases due to loss-of-function mutations

From: Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery

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
  1. 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