LOVD - Current system status

2017/05/24 16:39:23 BST - Wednesday, May 24th 2017

Gene symbol Gene name Total variants Unique variants
MLYCD Malonyl-CoA decarboxylase 14 12
NIPBL Nipped-B homolog (Drosophila) 0 0
OTX2 Orthodenticle homeobox 2 67 57
PAX6 Paired box gene 6 1024 461
RAB18 RAB18, member RAS oncogene family 14 5
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 125 51
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) 22 10
RPGR Retinitis Pigmentosa GTPase Regulator 0 0
SMC1A structural maintenance of chromosomes 1A 0 0
SOX2 SRY (sex determining region Y)-box 2 126 75
STRA6 stimulated by retinoic acid gene 6 homolog (mouse) 72 44
  Total of 11 gene entries 1464 715