Source: BEFREE

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: 7045
Gene Symbol: TGFBI
TGFBI
transforming growth factor beta induced 0.484 0.769 6.0E-08
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.200 None 0.992 117 7 1996 2019
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
solute carrier family 4 member 11 0.674 0.385 4.6E-15
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.200 None 0.923 13 0 2007 2020
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
collagen type VIII alpha 2 chain 0.670 0.423 0.12
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.150 None 1.000 5 1 2004 2016
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1
zinc finger E-box binding homeobox 1 0.442 0.808 0.97
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.140 None 1.000 4 0 2009 2017
Entrez Id: 4166
Gene Symbol: CHST6
CHST6
carbohydrate sulfotransferase 6 0.760 0.269 2.4E-09
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.130 None 1.000 3 2 2007 2014
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.110 None 1.000 1 0 2006 2006
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.110 None 1.000 1 0 1992 1992
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2
tumor associated calcium signal transducer 2 0.537 0.731 4.7E-03
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.110 None 1.000 1 0 2002 2002
Entrez Id: 3859
Gene Symbol: KRT12
KRT12
keratin 12 0.751 0.192 2.5E-14
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.110 None 1.000 1 0 2010 2010
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1
UbiA prenyltransferase domain containing 1 0.700 0.462 2.0E-02
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.110 None 1.000 1 1 2010 2010
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.040 None 1.000 4 0 2003 2020
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.030 None 1.000 3 0 2002 2010
Entrez Id: 58495
Gene Symbol: OVOL2
OVOL2
ovo like zinc finger 2 0.633 0.462 0.71
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.030 None 1.000 3 0 2012 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.030 None 1.000 3 0 2014 2018
Entrez Id: 355
Gene Symbol: FAS
FAS
Fas cell surface death receptor 0.372 0.923 0.81
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.020 None 1.000 2 0 2003 2011
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
collagen type XVII alpha 1 chain 0.545 0.769 2.3E-27
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.020 None 1.000 2 1 2016 2019
Entrez Id: 982
Gene Symbol: CDB2
CDB2
corneal dystrophy of Bowman layer type II (Thiel-Behnke) 0.780 0.154
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.020 None 1.000 2 0 2005 2007
Entrez Id: 2934
Gene Symbol: GSN
GSN
gelsolin 0.475 0.885 3.9E-11
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.020 None 1.000 2 2 2014 2018
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
transforming growth factor beta 2 0.433 0.885 1.00
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7702
Gene Symbol: ZNF143
ZNF143
zinc finger protein 143 0.670 0.577 2.4E-04
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
secreted protein acidic and cysteine rich 0.445 0.846 0.89
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.010 None 1.000 1 1 2002 2002
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A
Wnt family member 7A 0.531 0.692 3.6E-02
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease 0.010 None 1.000 1 0 2019 2019