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: 54583
Gene Symbol: EGLN1
EGLN1 		egl-9 family hypoxia inducible factor 1 0.540 0.731 0.97
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 moderate 1.000 6 0 2006 2015