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: 2059
Gene Symbol: EPS8
EPS8 		epidermal growth factor receptor pathway substrate 8 0.608 0.615 0.97
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		disease 0.300 moderate 1.000 6 0 2011 2016