Source: CLINVAR

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: 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 7 1995 2019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.500 None 0.977 0 1 1994 2018
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 0 3 2003 2003
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.200 None 0.975 45 12 1995 2017
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A 		lysine acetyltransferase 6A 0.560 0.769 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.100 None 0 1
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.100 None 0 1
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.100 None 0 2
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		H3.3 histone A 0.559 0.692 0.12
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.100 None 0 1
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.100 None 0 1