Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.700 strong 0.941 1 0 1995 2018
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.700 strong 0.956 1 0 1995 2019
Entrez Id: 4488
Gene Symbol: MSX2
MSX2 		msh homeobox 2 0.539 0.769 0.26
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.600 strong 0.950 1 0 1993 2017
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462 		zinc finger protein 462 0.711 0.462 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.400 strong 1.000 1 0 2003 2003
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.370 strong 1.000 1 0 2001 2019
Entrez Id: 4330
Gene Symbol: MN1
MN1 		MN1 proto-oncogene, transcriptional regulator 0.682 0.385 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.300 None 1.000 1 0 2005 2005