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: 1409
Gene Symbol: CRYAA
CRYAA
crystallin alpha A 0.653 0.385 0.17
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.700 strong 1.000 1 4 1996 2018
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
gap junction protein alpha 8 0.587 0.577 2.2E-03
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.400 None 1.000 1 6 1998 2019
Entrez Id: 2700
Gene Symbol: GJA3
GJA3
gap junction protein alpha 3 0.647 0.346 1.3E-03
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.400 None 1.000 1 5 2005 2019
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2
crystallin beta B2 0.623 0.462 0.39
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.400 None 1.000 1 4 1980 2017
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
crystallin gamma D 0.510 0.808 3.0E-04
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.400 None 1.000 1 2 2000 2019
Entrez Id: 4284
Gene Symbol: MIP
MIP
major intrinsic protein of lens fiber 0.507 0.846 3.1E-02
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.390 None 1.000 1 3 1968 2018
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
crystallin alpha B 0.515 0.731 2.2E-02
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.380 None 1.000 1 1 1997 2019
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
crystallin gamma C 0.612 0.577 6.1E-04
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.360 None 1.000 1 2 2002 2017
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
crystallin gamma S 0.743 0.192 2.3E-02
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.350 None 1.000 0 1 1983 2019
Entrez Id: 4094
Gene Symbol: MAF
MAF
MAF bZIP transcription factor 0.623 0.769 0.74
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.320 None 1.000 1 4 2002 2016
Entrez Id: 3982
Gene Symbol: LIM2
LIM2
lens intrinsic membrane protein 2 0.716 0.423 6.8E-04
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.320 None 1.000 0 1 1996 2016
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: 1414
Gene Symbol: CRYBB1
CRYBB1
crystallin beta B1 0.686 0.231 7.0E-04
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.200 None 1.000 1 1 2005 2020
Entrez Id: 2651
Gene Symbol: GCNT2
GCNT2
glucosaminyl (N-acetyl) transferase 2 (I blood group) 0.650 0.538 2.4E-05
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.170 None 1.000 0 2 1982 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.160 None 1.000 2 3 1994 2017
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: 1417
Gene Symbol: CRYBB3
CRYBB3
crystallin beta B3 0.769 0.269 3.6E-11
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.120 None 1.000 1 2 2005 2016
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: 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
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: 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: 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: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1 0.566 0.692 1.5E-07
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.100 None 0 1
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
PHD finger protein 6 0.581 0.692 1.00
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.100 None 0 1
Entrez Id: 84083
Gene Symbol: ZRANB3
ZRANB3
zinc finger RANBP2-type containing 3 0.780 0.577 4.2E-21
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease 0.100 None 0 1