Source: CURATED

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: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.800 None 0.976 19 14 1994 2019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.310 None 1.000 2 0 2005 2013