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: 4810
Gene Symbol: NHS
NHS 		NHS actin remodeling regulator 0.466 0.846 1.00
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.150 None 1.000 1 2 2006 2019
Entrez Id: 7431
Gene Symbol: VIM
VIM 		vimentin 0.372 0.846 0.71
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.310 None 1.000 1 1 2009 2016
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		BCL6 corepressor 0.471 0.808 1.00
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.110 None 1.000 1 2 2016 2020
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 100507347
Gene Symbol: VIM-AS1
VIM-AS1 		VIM antisense RNA 1 0.780 0.385
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B 		peroxisomal biogenesis factor 11 beta 0.612 0.654 1.3E-04
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.110 None 1.000 0 2 2017 2017