LOVD - Current system status

2020/08/07 20:44:52 UTC - Friday, August 7th 2020

Gene symbol Gene name Total variants Unique variants Patients
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 35 18 21
AEBP1 AE binding protein 1 14 9 7
B3GALT6 beta-1,3-galactosyltransferase 6 76 40 38
B4GALT7 beta-1,4-galactosyltransferase 7 26 13 13
CHST14 carbohydrate sulfotransferase 14 56 20 28
COL3A1 collagen type III alpha 1 chain 1204 737 1191
COL5A1 collagen type V alpha 1 chain 284 240 272
COL5A2 collagen type V alpha 2 chain 70 70 69
DSE dermatan sulfate epimerase 14 7 7
FKBP14 FKBP prolyl isomerase 14 55 7 28
PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 156 56 86
PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 10 6 5
TNXB tenascin XB 83 41 50
  Total of 13 gene entries 2083 1264 1813