LOVD - Current system status

2020/10/21 12:47:50 UTC - Wednesday, October 21st 2020

Gene symbol Gene name Total variants Unique variants Patients
BMP1 bone morphogenetic protein 1 28 14 15
CCDC134 coiled-coil domain containing 134 4 1 2
COL1A1 collagen type I alpha 1 chain 2077 1065 2053
COL1A2 collagen type I alpha 2 chain 1089 612 1069
CREB3L1 cAMP responsive element binding protein 3 like 1 10 5 5
CRTAP cartilage associated protein 59 32 29
FAM46A family with sequence similarity 46 member A 6 3 3
FKBP10 FKBP prolyl isomerase 10 133 42 68
IFITM5 interferon induced transmembrane protein 5 46 2 46
P3H1 prolyl 3-hydroxylase 1 202 78 111
P4HB prolyl 4-hydroxylase subunit beta 6 3 6
PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 32 15 16
PLS3 plastin 3 13 13 13
PPIB peptidylprolyl isomerase B 28 17 16
SEC24D SEC24 homolog D, COPII coat complex component 8 7 4
SERPINF1 serpin family F member 1 97 45 58
SERPINH1 serpin family H member 1 16 13 12
SP7 Sp7 transcription factor 4 2 2
SPARC secreted protein acidic and cysteine rich 6 3 3
TMEM38B transmembrane protein 38B 28 6 14
WNT1 Wnt family member 1 78 38 42
  Total of 21 gene entries 3970 2016 3568