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: 112398
Gene Symbol: EGLN2
EGLN2 		egl-9 family hypoxia inducible factor 2 0.604 0.731 0.72
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2015 2015