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: 6774
Gene Symbol: STAT3
STAT3
signal transducer and activator of transcription 3 0.320 0.923 1.00
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
disease 0.630 strong 1.000 26 14 2007 2018
Entrez Id: 5238
Gene Symbol: PGM3
PGM3
phosphoglucomutase 3 0.610 0.769 1.5E-05
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
disease 0.010 None 1.000 1 0 2018 2018