Source: ALL

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: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		disease 0.800 None 1.000 15 9 1996 2018
Entrez Id: 5335
Gene Symbol: PLCG1
PLCG1 		phospholipase C gamma 1 0.564 0.692 7.9E-05
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		disease 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 5829
Gene Symbol: PXN
PXN 		paxillin 0.547 0.654 8.2E-02
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		disease 0.010 None 1.000 1 0 2018 2018