Source: MGD

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: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 1.000 definitive 0.974 5 0 1994 2020
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 0.210 None 1.000 2 0 1978 2012
Entrez Id: 200734
Gene Symbol: SPRED2
SPRED2 		sprouty related EVH1 domain containing 2 0.711 0.577 2.9E-07
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 0.210 None 1.000 1 0 2005 2005
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH 		parathyroid hormone like hormone 0.453 0.846 0.81
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 0.210 None 1.000 1 0 1994 2012