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Table 1 Top targetable diseases due to gain-of-function mutations

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

Type Diseases OMIM Gene/Protein
Over-activation Hereditary motor and sensory neuropathy type IIC 606071 TRPV4
Postsynaptic slow-channel congenital myasthenic syndrome 601462 CHRNA1, CHRND, CHRNE, CHRNB1
PRPS1 superactivity 300661 PRPS1
Parkinson disease-8 607060 LRRK2
Tubular aggregate myopathy 160565 STIM1
Achondroplasia 100800 FGFR3
Gene duplication Lubs X-linked mental retardation syndrome 300260 MECP2
Parkinson disease-4 605543 SNCA
CAG repeat Spinocerebellar ataxia 1,2,3,6,7,17 183086, 183090, 109150, 183086, 164500, 607136 ATXN1,2,3, CACNA1A,ATXN7, TBP
Huntington 6066438 HTT
Spinal and bulbar muscular atrophy X-linked 313700 AR
Non-CAG trinucletide repeat Friederich Ataxia 1 229300 FXN
Myotonic Dystrophy 1 160900 DMPK
Oculopharyngeal muscular dystrophy 164300 PABPN1
Spinocerebellar ataxia 8 608768 ATXN8
  1. Corresponding disease names, OMIM identifiers, and mutated genes are listed. Diseases are grouped by the molecular mechanism as indicated in the type column. The rest of potential candidates can be found in Additional file 1: Table S7