LOVD - Current system status

2018/07/22 03:01:50 UTC - Sunday, July 22nd 2018

Gene symbol Gene name Total variants Unique variants Patients
BMP1 bone morphogenetic protein 1 23 11 12
COL1A1 collagen, type I, alpha 1 1979 1024 1958
COL1A2 collagen, type I, alpha 2 1042 602 1024
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 121 36 62
IFITM5 interferon induced transmembrane protein 5 44 2 44
P3H1 prolyl 3-hydroxylase 1 176 67 96
P4HB prolyl 4-hydroxylase, beta polypeptide 4 1 3
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 82 36 47
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 48 25 26
  Total of 20 gene entries 3711 1906 3361