LOVD - Current system status

2017/09/26 14:48:51 CEST - Tuesday, September 26th 2017

Gene symbol Gene name Total variants Unique variants Patients
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (Succinic semialdehyde dehydroge 449 40 301
ASPA aspartoacylase (Canavan disease) 236 67 220
D2HGDH D-2-hydroxyglutarate dehydrogenase 88 31 60
GAMT Guanidinoacetate N-methyltransferase 257 44 177
GATM L-arginine:glycine amidinotransferase, nuclear gene encoding mitochondrial 80 24 44
L2HGDH L-2-hydroxyglutarate dehydrogenase 463 92 264
SLC6A8 Creatine transporter: solute carrier family 6 (neurotransmitter transporter 664 142 670
  Total of 7 gene entries 2237 440 1736