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: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		disease 0.100 None 0 1
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		disease 0.100 None 0 2