LOVD - Current system status

2017/08/20 13:14:56 UTC - Sunday, August 20th 2017

Gene symbol Gene name Total variants Unique variants Patients
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 28 11 14
B3GALT6 beta-1,3-galactosyltransferase 6 12 8 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 6 4 3
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 44 16 22
COL3A1 collagen, type III, alpha 1 1028 633 1021
COL5A1 collagen, type V, alpha 1 220 192 215
COL5A2 collagen, type V, alpha 2 52 52 51
DSE dermatan sulfate epimerase 4 2 2
FKBP14 FK506 binding protein 14 18 4 9
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 134 44 72
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 4 3 2
TNXB tenascin XB 21 15 16
  Total of 12 gene entries 1571 984 1432