Disease

Blomstrand Osteochondrodysplasia

About the Disease
Chondrodysplasia, Blomstrand Type, also known as chondrodysplasia blomstrand type, is related to pseudo-torch syndrome 1 and porphyria, acute hepatic. An important gene associated with Chondrodysplasia, Blomstrand Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include bone, eye and tongue, and related phenotypes are cataract and depressed nasal bridge

Common Targets
BMPR1B | FGFR2 | DYM | DYNC2LI1 | TAB2 | GNAI3 | ALPL | SLC35B2 | INPPL1 | FANCE | SLC35A3 | PLOD2 | MMP24 | COL1A1 | PPIB | FGFR3 | TRPV4 | ARSL | TRIP11 | RSPRY1 | PAPSS2 | EVC | TP63 | SFRP4 | PCYT1A | HSPG2 | TBX2 | COL1A2 | EBP | ABCC9 | NEK9 | MAP3K7 | G4318 | EVC2 | RMRP | PRG4 | TBX5 | RPL13 | SOX9 | DYNC2H1 | IFITM5 | SCN1A | C2CD3 | BPNT2 | SLC10A7 | IFT122 | SLC35D1 | PTH1R | LIFR | ESCO2 | BNIP1 | COMP | GNAS | KIF22 | FLNB | GPC6 | COL11A1 | CSGALNACT1 | CFAP410 | BMPR1A | COL2A1 | MAFB | MSGN1 | COL27A1 | GNPNAT1 | PEX7 | ALG1 | MIA3 | LBR | NPR2 | NEK1 | UFSP2 | COL11A2 | CLCN7 | NEPRO | SBDS

疾病靶点研报
Blomstrand Osteochondrodysplasia

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