Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51715
Gene Symbol: RAB23
RAB23
0.130 Biomarker disease BEFREE The present study was performed to determine if coding errors in Gli3, Ihh, Rab23, or Jag1 could be causally linked to craniosynostosis in this unique animal model. 29437519 2018
Entrez Id: 51715
Gene Symbol: RAB23
RAB23
0.130 GeneticVariation disease BEFREE The most common genetic mutations identified in syndromic craniosynostosis involve the fibroblast growth factor receptor (FGFR) family with other mutations occurring in genes for transcription factors TWIST, MSX2, and GLI3, and other proteins EFNB1, RAB23, RECQL4, and POR, presumed to be involved either upstream or downstream of the FGFR signaling pathway. 21082653 2010
Entrez Id: 51715
Gene Symbol: RAB23
RAB23
0.130 GeneticVariation disease BEFREE The discovery of RAB23 mutations in patients with Carpenter syndrome implicates HH signaling in cranial-suture biogenesis--an unexpected finding, given that craniosynostosis is not usually associated with mutations of other HH-pathway components--and provides a new molecular target for studies of obesity. 17503333 2007
Entrez Id: 51715
Gene Symbol: RAB23
RAB23
0.130 Biomarker disease HPO