osteogenesis imperfecta Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (Human Disease Ontology, DOID_12347)
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Genes

17 genes involed in the disease osteogenesis imperfecta from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ANO5 anoctamin 5
BMP1 bone morphogenetic protein 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CRTAP cartilage associated protein
FKBP10 FK506 binding protein 10, 65 kDa
IFITM5 interferon induced transmembrane protein 5
LRP5 low density lipoprotein receptor-related protein 5
P3H1 prolyl 3-hydroxylase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PPIB peptidylprolyl isomerase B (cyclophilin B)
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SP7 Sp7 transcription factor
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
TMEM38B transmembrane protein 38B
WNT1 wingless-type MMTV integration site family, member 1