LOVD - Current system status

2019/07/24 08:47:10 CEST - Wednesday, July 24th 2019

Gene symbol Gene name Total variants Unique variants Patients
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (Succinic semialdehyde dehydroge 0 0 0
ASPA aspartoacylase (Canavan disease) 0 0 0
D2HGDH D-2-hydroxyglutarate dehydrogenase 0 0 0
GAMT Guanidinoacetate N-methyltransferase 0 0 0
GATM L-arginine:glycine amidinotransferase, nuclear gene encoding mitochondrial 0 0 0
L2HGDH L-2-hydroxyglutarate dehydrogenase 0 0 0
SLC6A8 Creatine transporter: solute carrier family 6 (neurotransmitter transporter 0 0 0
  Total of 7 gene entries 0 0 0