Craniosynostosis Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A synostosis that results_in premature fusion located_in skull. (Human Disease Ontology, DOID_2340)
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Genes

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

Symbol Name Standardized Value
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 4.0
FGFR2 fibroblast growth factor receptor 2 4.0
FGFR3 fibroblast growth factor receptor 3 4.0
FGFR1 fibroblast growth factor receptor 1 4.0
FREM1 FRAS1 related extracellular matrix 1 4.0
IL11RA interleukin 11 receptor, alpha 4.0
CD96 CD96 molecule 4.0
MSX2 msh homeobox 2 4.0
ZIC1 Zic family member 1 4.0
RECQL4 RecQ protein-like 4 4.0
POR P450 (cytochrome) oxidoreductase 4.0
ALX4 ALX homeobox 4 4.0
TGFBR1 transforming growth factor, beta receptor 1 4.0
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 4.0
ASXL1 additional sex combs like transcriptional regulator 1 4.0
ERF Ets2 repressor factor 4.0
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 4.0
SKI SKI proto-oncogene 4.0
SMAD6 SMAD family member 6 4.0
MEGF8 multiple EGF-like-domains 8 4.0
TCF12 transcription factor 12 4.0
TWIST1 twist family bHLH transcription factor 1 4.0
P4HB prolyl 4-hydroxylase, beta polypeptide 4.0
SEC24D SEC24 family member D 4.0
RAB23 RAB23, member RAS oncogene family 4.0
EFNB1 ephrin-B1 4.0