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: 55704
Gene Symbol: CCDC88A
CCDC88A 		coiled-coil domain containing 88A 0.610 0.615 1.00
CUI: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		disease 0.540 None 0.750 2 0 2003 2020
Entrez Id: 55704
Gene Symbol: CCDC88A
CCDC88A 		coiled-coil domain containing 88A 0.610 0.615 1.00
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		disease 0.320 None 1.000 1 0 2016 2019
Entrez Id: 55704
Gene Symbol: CCDC88A
CCDC88A 		coiled-coil domain containing 88A 0.610 0.615 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 moderate 1.000 1 0 2019 2019