Source: GENOMICS_ENGLAND

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: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C0086543
Disease: Cataract
Cataract
disease 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
myosin heavy chain 9 0.505 0.808 1.00
CUI: C0086543
Disease: Cataract
Cataract
disease 0.350 strong 1.000 1 0 2000 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0086543
Disease: Cataract
Cataract
disease 0.400 strong 1.000 1 0 2016 2016
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8
C3 and PZP like alpha-2-macroglobulin domain containing 8 0.722 0.231 6.9E-23
CUI: C0086543
Disease: Cataract
Cataract
disease 0.410 strong 1.000 1 0 2017 2019
Entrez Id: 26173
Gene Symbol: INTS1
INTS1
integrator complex subunit 1 0.666 0.500 7.1E-11
CUI: C0086543
Disease: Cataract
Cataract
disease 0.310 strong 1.000 1 0 2007 2019
Entrez Id: 26007
Gene Symbol: TKFC
TKFC
triokinase and FMN cyclase 0.839 0.192 3.2E-12
CUI: C0086543
Disease: Cataract
Cataract
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 2592
Gene Symbol: GALT
GALT
galactose-1-phosphate uridylyltransferase 0.612 0.654 2.1E-06
CUI: C0086543
Disease: Cataract
Cataract
disease 0.420 strong 1.000 1 0 2008 2016
Entrez Id: 23761
Gene Symbol: PISD
PISD
phosphatidylserine decarboxylase 0.821 0.308 0.22
CUI: C0086543
Disease: Cataract
Cataract
disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0086543
Disease: Cataract
Cataract
disease 0.400 None 1.000 1 0 2016 2016
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
collagen type XVIII alpha 1 chain 0.449 0.808 1.7E-10
CUI: C0086543
Disease: Cataract
Cataract
disease 0.400 strong 0 0
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
crystallin gamma D 0.510 0.808 3.0E-04
CUI: C0086543
Disease: Cataract
Cataract
disease 0.700 strong 0.960 0 0 1999 2019
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
paired like homeodomain 2 0.489 0.808 0.98
CUI: C0086543
Disease: Cataract
Cataract
disease 0.310 limited 1.000 0 0 1998 1998
Entrez Id: 4284
Gene Symbol: MIP
MIP
major intrinsic protein of lens fiber 0.507 0.846 3.1E-02
CUI: C0086543
Disease: Cataract
Cataract
disease 0.700 strong 1.000 0 0 2000 2019
Entrez Id: 3299
Gene Symbol: HSF4
HSF4
heat shock transcription factor 4 0.663 0.423 1.1E-09
CUI: C0086543
Disease: Cataract
Cataract
disease 0.400 strong 1.000 0 0 2002 2019
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2
beaded filament structural protein 2 0.686 0.385 3.2E-08
CUI: C0086543
Disease: Cataract
Cataract
disease 0.390 strong 1.000 0 0 2000 2014