Source: GENOMICS_ENGLAND

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: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		disease 0.700 None 1.000 7 0 2008 2017