Klippel-Feil Syndrome

About the Disease
Klippel-Feil Syndrome, also known as cervical vertebral fusion, is related to klippel-feil syndrome 2, autosomal recessive and klippel-feil syndrome 1, autosomal dominant. An important gene associated with Klippel-Feil Syndrome is MYO18B (Myosin XVIIIB), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Mesodermal commitment pathway. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and brain, and related phenotypes are growth/size/body region and limbs/digits/tail

Common Targets
TTC27 | POLR1D | MYO18B | PPIB | MEOX1 | NAT10 | RIPPLY2 | MCM7 | SCUBE3 | USP13

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