LOVD - Current system status

2019/08/23 13:16:22 UTC - Friday, August 23rd 2019

Gene symbol Gene name Total variants Unique variants Patients
BMP1 bone morphogenetic protein 1 25 13 13
COL1A1 collagen, type I, alpha 1 2018 1046 1996
COL1A2 collagen, type I, alpha 2 1054 604 1036
CREB3L1 cAMP responsive element binding protein 3-like 1 12 5 6
CRTAP cartilage associated protein 59 32 29
FAM46A family with sequence similarity 46 member A 6 3 3
FKBP10 FK506 binding protein 10, 65 kDa 125 39 64
IFITM5 interferon induced transmembrane protein 5 46 2 46
P3H1 prolyl 3-hydroxylase 1 181 69 99
P4HB prolyl 4-hydroxylase, beta polypeptide 6 3 6
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 26 10 13
PLS3 plastin 3 13 13 13
PPIB peptidylprolyl isomerase B (cyclophilin B) 28 17 16
SEC24D SEC24 family member D 8 7 4
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 91 41 54
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 14 11 10
SP7 Sp7 transcription factor 4 2 2
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 4 2 2
TMEM38B transmembrane protein 38B 28 6 14
WNT1 wingless-type MMTV integration site family, member 1 75 36 40
  Total of 20 gene entries 3823 1961 3447