Disease

Ellis-Van Creveld Syndrome

About the Disease
Ellis-Van Creveld Syndrome, also known as chondroectodermal dysplasia, is related to short-rib thoracic dysplasia 10 with or without polydactyly and short-rib thoracic dysplasia 11 with or without polydactyly. An important gene associated with Ellis-Van Creveld Syndrome is EVC2 (EvC Ciliary Complex Subunit 2), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include bone, heart and skin, and related phenotypes are failure to thrive and abnormal heart valve morphology

Common Targets
DYNC2LI1 | GLI2 | EVC | EVC2 | WDR35 | PRKACA | COL11A2 | GLI1

疾病靶点研报
Ellis-Van Creveld Syndrome

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