LOVD - Current system status

2017/02/19 16:29:59 UTC - Sunday, February 19th 2017

Gene symbol Gene name Total variants Unique variants Patients
BMP1 bone morphogenetic protein 1 23 11 12
COL1A1 collagen, type I, alpha 1 1732 919 1714
COL1A2 collagen, type I, alpha 2 980 573 963
CREB3L1 cAMP responsive element binding protein 3-like 1 2 1 1
CRTAP cartilage associated protein 53 29 26
FKBP10 FK506 binding protein 10, 65 kDa 115 34 59
IFITM5 interferon induced transmembrane protein 5 42 2 42
P3H1 prolyl 3-hydroxylase 1 170 65 93
P4HB prolyl 4-hydroxylase, beta polypeptide 2 1 2
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 22 9 11
PLS3 plastin 3 7 7 7
PPIB peptidylprolyl isomerase B (cyclophilin B) 24 15 14
SEC24D SEC24 family member D 8 7 4
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 72 33 42
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 12 9 9
SP7 Sp7 transcription factor 2 1 1
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 4 2 2
TMEM38B transmembrane protein 38B 24 6 12
WNT1 wingless-type MMTV integration site family, member 1 41 22 22
  Total of 19 gene entries 3335 1746 3019