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: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly
disease 0.400 None 1.000 0 1 2016 2016