Source: ORPHANET

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: 1415
Gene Symbol: CRYBB2
CRYBB2 		crystallin beta B2 0.623 0.462 0.39
CUI: C0344523
Disease: Cataract, congenital, cerulean type 1
Cataract, congenital, cerulean type 1 		disease 0.630 None 1.000 2 0 1997 2019
Entrez Id: 4094
Gene Symbol: MAF
MAF 		MAF bZIP transcription factor 0.623 0.769 0.74
CUI: C0344523
Disease: Cataract, congenital, cerulean type 1
Cataract, congenital, cerulean type 1 		disease 0.410 None 0.500 1 0 2006 2011
Entrez Id: 4284
Gene Symbol: MIP
MIP 		major intrinsic protein of lens fiber 0.507 0.846 3.1E-02
CUI: C0344523
Disease: Cataract, congenital, cerulean type 1
Cataract, congenital, cerulean type 1 		disease 0.310 None 1.000 1 0 2011 2011
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD 		crystallin gamma D 0.510 0.808 3.0E-04
CUI: C0344523
Disease: Cataract, congenital, cerulean type 1
Cataract, congenital, cerulean type 1 		disease 0.300 None 1.000 1 0 2003 2003