Cole-Carpenter Syndrome

About the Disease
Cole-Carpenter Syndrome, also known as cole carpenter syndrome, is related to osteogenesis imperfecta, type vii and scoliosis. An important gene associated with Cole-Carpenter Syndrome is SEC24D (SEC24 Homolog D, COPII Coat Complex Component), and among its related pathways/superpathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. Affiliated tissues include bone, eye and liver, and related phenotypes are frontal bossing and skeletal dysplasia

Common Targets
SEC24D | P4HB

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