LOVD - Current system status

2018/11/13 00:16:26 UTC - Tuesday, November 13th 2018

Gene symbol Gene name Total variants Unique variants Patients
BMP1 bone morphogenetic protein 1 23 11 12
COL1A1 collagen, type I, alpha 1 2002 1034 1981
COL1A2 collagen, type I, alpha 2 1053 604 1035
CREB3L1 cAMP responsive element binding protein 3-like 1 6 3 3
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 123 38 63
IFITM5 interferon induced transmembrane protein 5 45 2 45
P3H1 prolyl 3-hydroxylase 1 179 69 98
P4HB prolyl 4-hydroxylase, beta polypeptide 5 2 5
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 26 10 13
PLS3 plastin 3 11 11 11
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 85 38 50
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 12 9 9
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 69 35 37
  Total of 20 gene entries 3776 1935 3414