Osteogenesis Imperfecta Variant Database
LOVD v.2.0 Build 38 [
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Please select a gene database:
BMP1 (bone morphogenetic protein 1)
CCDC134 (coiled-coil domain containing 134)
COL1A1 (collagen type I alpha 1 chain)
COL1A2 (collagen type I alpha 2 chain)
CREB3L1 (cAMP responsive element binding protein 3 like 1)
CRTAP (cartilage associated protein)
FAM46A (family with sequence similarity 46 member A)
FKBP10 (FKBP prolyl isomerase 10)
IFITM5 (interferon induced transmembrane protein 5)
P3H1 (prolyl 3-hydroxylase 1)
P4HB (prolyl 4-hydroxylase subunit beta)
PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2)
PLS3 (plastin 3)
PPIB (peptidylprolyl isomerase B)
SEC24D (SEC24 homolog D, COPII coat complex component)
SERPINF1 (serpin family F member 1)
SERPINH1 (serpin family H member 1)
SP7 (Sp7 transcription factor)
SPARC (secreted protein acidic and cysteine rich)
TMEM38B (transmembrane protein 38B)
WNT1 (Wnt family member 1)
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Leiden University Medical Center