This table has been prepared by Dr Gisèle Bonne * - PhD and by Pr. François Rivier ** - MD, PhD
This website is developed and maintained by Dalil Hamroun** - PhD
* Sorbonne Université-Inserm, Centre of Research in Myology , Paris, France.
** Chu de Montpellier, Montpellier. France.
GT_NMD 2024 (updated 17/01/2024)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
C9orf72 Chromosome 9 open reading frame 72       | 9p21.2 | * Spinobulbar muscular atrophy (SBMA)
- (12.113, 12.81)* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS (12.113, 12.81) |