LOVD - Current system status

2019/08/20 01:57:26 UTC - Tuesday, August 20th 2019

Gene symbol Gene name Total variants Unique variants Patients
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 28 11 14
AEBP1 AE binding protein 1 14 9 7
B3GALT6 beta-1,3-galactosyltransferase 6 32 23 16
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 1063 660 1056
COL5A1 collagen, type V, alpha 1 224 196 218
COL5A2 collagen, type V, alpha 2 56 56 55
DSE dermatan sulfate epimerase 4 2 2
FKBP14 FK506 binding protein 14 20 5 10
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 134 44 72
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 6 4 3
TNXB tenascin XB 23 17 17
  Total of 13 gene entries 1654 1047 1493