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: 23218
Gene Symbol: NBEAL2
NBEAL2 		neurobeachin like 2 0.617 0.769 6.0E-02
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		disease 1.000 definitive 0.917 0 9 2010 2019