Source: HPO

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: 4653
Gene Symbol: MYOC
MYOC
myocilin 0.595 0.500 7.6E-12
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.700 None 0.979 0 0 1995 2019
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
latent transforming growth factor beta binding protein 2 0.572 0.692 7.4E-04
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.480 None 1.000 0 0 2009 2018
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
solute carrier family 4 member 4 0.644 0.692 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.430 None 1.000 0 0 2004 2018
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
paired like homeodomain 2 0.489 0.808 0.98
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.400 None 1.000 0 0 2002 2018
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.360 None 0.875 0 0 2000 2018
Entrez Id: 285590
Gene Symbol: SH3PXD2B
SH3PXD2B
SH3 and PX domains 2B 0.631 0.577 4.2E-03
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.310 None 1.000 0 0 2012 2012
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
cytochrome P450 family 1 subfamily B member 1 0.457 0.769 2.2E-05
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.200 None 0.979 0 0 2000 2017
Entrez Id: 4016
Gene Symbol: LOXL1
LOXL1
lysyl oxidase like 1 0.590 0.615 0.89
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.200 None 0.923 0 0 2007 2019
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
forkhead box C1 0.483 0.846 0.95
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.200 None 1.000 0 0 1998 2020
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.180 None 1.000 0 0 2005 2019
Entrez Id: 4010
Gene Symbol: LMX1B
LMX1B
LIM homeobox transcription factor 1 beta 0.565 0.731 0.75
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.170 None 1.000 0 0 1999 2018
Entrez Id: 81846
Gene Symbol: SBF2
SBF2
SET binding factor 2 0.619 0.577 6.4E-10
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.140 None 0.750 0 0 2003 2019
Entrez Id: 4810
Gene Symbol: NHS
NHS
NHS actin remodeling regulator 0.466 0.846 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.140 None 1.000 0 0 2018 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.140 None 1.000 0 0 2000 2012
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.140 None 1.000 0 0 2005 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.130 None 1.000 0 0 1996 2010
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10
ADAM metallopeptidase with thrombospondin type 1 motif 10 0.641 0.500 0.84
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.120 None 1.000 0 0 2013 2014
Entrez Id: 355
Gene Symbol: FAS
FAS
Fas cell surface death receptor 0.372 0.923 0.81
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.120 None 1.000 0 0 2008 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.120 None 1.000 0 0 2019 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.120 None 1.000 0 0 2016 2018
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.120 None 1.000 0 0 2017 2017
Entrez Id: 7010
Gene Symbol: TEK
TEK
TEK receptor tyrosine kinase 0.462 0.692 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.120 None 1.000 0 0 2017 2018
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
major histocompatibility complex, class II, DR beta 1 0.333 0.923 1.1E-03
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.120 None 1.000 0 0 1999 2005
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.120 None 1.000 0 0 2012 2014
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3
forkhead box E3 0.568 0.654 0.18
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2015 2015