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: 1409
Gene Symbol: CRYAA
CRYAA
crystallin alpha A 0.653 0.385 0.17
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.700 strong 1.000 0 0 1996 2018
Entrez Id: 23424
Gene Symbol: TDRD7
TDRD7
tudor domain containing 7 0.751 0.346 6.1E-04
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.320 strong 1.000 1 0 2014 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.320 strong 1.000 0 0 2014 2019
Entrez Id: 55750
Gene Symbol: AGK
AGK
acylglycerol kinase 0.650 0.654 6.0E-09
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.310 strong 1.000 0 0 2012 2012
Entrez Id: 79443
Gene Symbol: FYCO1
FYCO1
FYVE and coiled-coil domain autophagy adaptor 1 0.769 0.269 5.4E-27
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.310 strong 1.000 0 0 2011 2011
Entrez Id: 57716
Gene Symbol: PRX
PRX
periaxin 0.650 0.577 2.1E-14
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.300 None 1.000 1 0 2016 2016