Acrocephalosyndactylia Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A synostosis that results_in craniosynostosis and syndactyly. (Human Disease Ontology, DOID_12960)
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Genes

6 genes involed in the disease Acrocephalosyndactylia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
MEGF8 multiple EGF-like-domains 8 5.0
TWIST1 twist family bHLH transcription factor 1 5.0
RAB23 RAB23, member RAS oncogene family 5.0
FGFR2 fibroblast growth factor receptor 2 5.0
FGFR1 fibroblast growth factor receptor 1 5.0
GLI3 GLI family zinc finger 3 5.0