Source: CLINGEN

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: 2034
Gene Symbol: EPAS1
EPAS1
endothelial PAS domain protein 1 0.454 0.731 0.60
Hereditary Paraganglioma-Pheochromocytoma Syndrome
disease 0.300 disputed 1.000 3 0 2013 2016