LOVD - Current system status

2019/09/15 06:34:52 UTC - Sunday, September 15th 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 40 25 20
B4GALT7 beta-1,4-galactosyltransferase 7 6 4 3
CHST14 carbohydrate sulfotransferase 14 46 17 23
COL3A1 collagen type III alpha 1 chain 1069 660 1062
COL5A1 collagen type V alpha 1 chain 224 196 218
COL5A2 collagen type V alpha 2 chain 56 56 55
DSE dermatan sulfate epimerase 4 2 2
FKBP14 FKBP prolyl isomerase 14 50 6 25
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 1700 1051 1519