Spondylocostal Dysostosis

About the Disease
Spondylocostal Dysostosis, also known as jarcho-levin syndrome, is related to spondylocostal dysostosis 5 and spondylocostal dysostosis 1, autosomal recessive. An important gene associated with Spondylocostal Dysostosis is HES7 (Hes Family BHLH Transcription Factor 7), and among its related pathways/superpathways are Signal Transduction and Pre-NOTCH Expression and Processing. Affiliated tissues include vertebrae, ribs and spinal cord, and related phenotypes are nervous system and embryo

Common Targets
DMRT2 | HES7 | MESP2 | TBX6 | LFNG | RIPPLY2 | RYR1

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