Source: CLINVAR

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: 1418
Gene Symbol: CRYGA
CRYGA 		crystallin gamma A 0.805 0.269 4.3E-10
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 0 1
Entrez Id: 25945
Gene Symbol: NECTIN3
NECTIN3 		nectin cell adhesion molecule 3 0.729 0.500 0.92
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 0 1
Entrez Id: 5702
Gene Symbol: PSMC3
PSMC3 		proteasome 26S subunit, ATPase 3 0.792 0.423 0.95
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 0 1
Entrez Id: 203068
Gene Symbol: TUBB
TUBB 		tubulin beta class I 0.603 0.692 0.98
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 0 1
Entrez Id: 50628
Gene Symbol: GEMIN4
GEMIN4 		gem nuclear organelle associated protein 4 0.565 0.808 5.9E-13
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 0 1
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 0 1
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 0 3