Disease

Coffin-Lowry Syndrome

About the Disease
Coffin-Lowry Syndrome, also known as cls, is related to intellectual developmental disorder, x-linked 19 and coffin syndrome 1, and has symptoms including seizures An important gene associated with Coffin-Lowry Syndrome is RPS6KA3 (Ribosomal Protein S6 Kinase A3), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. Affiliated tissues include bone, kidney and heart, and related phenotypes are intellectual disability and frontal bossing

Common Targets
ARID1B | ATRX | RPS6KA3 | SMC1A | RNU4ATAC | SMARCA4 | SMARCB1

疾病靶点研报
Coffin-Lowry Syndrome

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