Disease

Osteogenesis Imperfecta

About the Disease
Brittle Bone Disorder, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta, type i and osteogenesis imperfecta, type ii, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Brittle Bone Disorder is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Collagen chain trimerization. The drugs Pamidronic acid and Alendronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are carious teeth and pectus carinatum

Common Targets
SKIC2 | TAPT1 | TNFSF11 | PPIB | LRP5 | PLOD2 | SOST | SLC7A7 | CCDC134 | SEC24D | MESD | SPARC | BMP1 | COL5A1 | COL1A2 | P3H1 | FKBP10 | TGFB1 | P4HB | FDPS | TGFB2 | CREB3L1 | GHR | COL10A1 | SERPINH1 | TENT5A | PTH1R | IFITM5 | NBAS | CRTAP | SP7 | CALCR | TGFB3 | NUDT6 | SIGLEC15 | WNT1 | GGPS1 | TMEM38B | Parathyroid Hormone Receptors (PTHR) (nonspecified subtype) | VDR | MBTPS2 | SERPINF1 | G4318 | ARID1B | COL1A1 | CCN1

疾病靶点研报
Osteogenesis Imperfecta

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