Disease

CHARGE Syndrome

About the Disease
Charge Syndrome, also known as charge association, is related to choanal atresia, posterior and coloboma of macula. An important gene associated with Charge Syndrome is CHD7 (Chromodomain Helicase DNA Binding Protein 7), and among its related pathways/superpathways are Signal Transduction and Chromatin Regulation / Acetylation. Affiliated tissues include heart, eye and retina, and related phenotypes are hearing impairment and global developmental delay

Common Targets
PUF60 | RERE | CHD7 | G2033 | CDH7 | KMT2D | SEMA3A | USP9X | KDM6A

疾病靶点研报
CHARGE Syndrome

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