LOVD - Current system status

2018/05/23 05:30:51 UTC - Wednesday, May 23rd 2018

Gene symbol Gene name Total variants Unique variants Patients
BMP1 bone morphogenetic protein 1 23 11 12
COL1A1 collagen, type I, alpha 1 1971 1020 1951
COL1A2 collagen, type I, alpha 2 1037 601 1019
CREB3L1 cAMP responsive element binding protein 3-like 1 4 2 2
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 43 2 43
P3H1 prolyl 3-hydroxylase 1 174 67 95
P4HB prolyl 4-hydroxylase, beta polypeptide 4 1 3
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 26 10 13
PLS3 plastin 3 10 10 10
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 46 24 25
  Total of 20 gene entries 3690 1898 3344