LOVD - Current system status

2018/09/21 06:53:08 CEST - Friday, September 21st 2018

Gene symbol Gene name Total variants Unique variants Patients
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (Succinic semialdehyde dehydroge 481 62 318
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 2269 462 1753