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: 2703
Gene Symbol: GJA8
GJA8
gap junction protein alpha 8 0.561 0.621 1.0E-02
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.420 1.000 0 0 2011 2015
Entrez Id: 631
Gene Symbol: BFSP1
BFSP1
beaded filament structural protein 1 0.799 0.034 1.6E-07
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.410 1.000 0 0 2007 2007
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.545 0.655 1.8E-38
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.400 0 0
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
crystallin beta B1 0.701 0.172 7.0E-04
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.400 0 0
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
crystallin beta B3 0.785 0.172 2.7E-11
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.400 0 0
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
crystallin alpha A 0.663 0.345 0.14
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.330 1.000 0 0 2007 2015
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
crystallin gamma D 0.575 0.690 3.6E-04
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.320 1.000 0 0 2006 2016
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2
crystallin beta B2 0.681 0.241 0.31
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.310 1.000 0 0 2004 2004
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
crystallin alpha B 0.546 0.621 2.3E-02
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.310 1.000 0 0 1998 1998
Entrez Id: 79443
Gene Symbol: FYCO1
FYCO1
FYVE and coiled-coil domain containing 1 0.815 0.172 2.7E-26
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.300 0 0
Entrez Id: 4810
Gene Symbol: NHS
NHS
NHS actin remodeling regulator 0.600 0.759 1.00
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.300 0 0
Entrez Id: 4284
Gene Symbol: MIP
MIP
major intrinsic protein of lens fiber 0.540 0.759 2.9E-02
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.300 0 0
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
crystallin beta A1 0.727 0.207 7.5E-05
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.300 0 0
Entrez Id: 2700
Gene Symbol: GJA3
GJA3
gap junction protein alpha 3 0.707 0.276 1.3E-03
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.300 0 0
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
EPH receptor A2 0.526 0.690 9.0E-06
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.300 0 0
Entrez Id: 1412
Gene Symbol: CRYBA2
CRYBA2
crystallin beta A2 0.815 0.172 1.5E-04
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.300 0 0
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
crystallin gamma C 0.672 0.345 6.3E-04
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.300 0 0
Entrez Id: 146862
Gene Symbol: UNC45B
UNC45B
unc-45 myosin chaperone B 0.834 0.103 2.7E-15
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease 0.300 0 0