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: 55750
Gene Symbol: AGK
AGK 		acylglycerol kinase 0.650 0.654 6.0E-09
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 2 0 2012 2015
Entrez Id: 3299
Gene Symbol: HSF4
HSF4 		heat shock transcription factor 4 0.663 0.423 1.1E-09
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 2 0 2004 2006
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2 		glucosaminyl (N-acetyl) transferase 2 (I blood group) 0.650 0.538 2.4E-05
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 2 0 2012 2015
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA 		crystallin alpha A 0.653 0.385 0.17
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 1 0 2006 2006
Entrez Id: 4284
Gene Symbol: MIP
MIP 		major intrinsic protein of lens fiber 0.507 0.846 3.1E-02
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 3982
Gene Symbol: LIM2
LIM2 		lens intrinsic membrane protein 2 0.716 0.423 6.8E-04
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		gap junction protein alpha 8 0.587 0.577 2.2E-03
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 23268
Gene Symbol: DNMBP
DNMBP 		dynamin binding protein 0.743 0.423 5.7E-17
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 23094
Gene Symbol: SIPA1L3
SIPA1L3 		signal induced proliferation associated 1 like 3 0.760 0.269 1.00
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 221496
Gene Symbol: LEMD2
LEMD2 		LEM domain nuclear envelope protein 2 0.769 0.308 0.75
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2 		EPH receptor A2 0.501 0.731 1.1E-05
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 1419
Gene Symbol: CRYGB
CRYGB 		crystallin gamma B 0.780 0.269 8.1E-08
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2 		crystallin beta B2 0.623 0.462 0.39
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 79443
Gene Symbol: FYCO1
FYCO1 		FYVE and coiled-coil domain autophagy adaptor 1 0.769 0.269 5.4E-27
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 4047
Gene Symbol: LSS
LSS 		lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 0 0
Entrez Id: 4810
Gene Symbol: NHS
NHS 		NHS actin remodeling regulator 0.466 0.846 1.00
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		disease 0.300 None 0 0