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: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 3984
Gene Symbol: LIMK1
LIMK1
LIM domain kinase 1 0.488 0.731 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 10594
Gene Symbol: PRPF8
PRPF8
pre-mRNA processing factor 8 0.631 0.615 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
G protein subunit alpha q 0.516 0.808 0.98
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 196
Gene Symbol: AHR
AHR
aryl hydrocarbon receptor 0.410 0.923 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
OCRL inositol polyphosphate-5-phosphatase 0.553 0.731 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 23586
Gene Symbol: DDX58
DDX58
DExD/H-box helicase 58 0.526 0.808 1.8E-23
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
peroxisomal biogenesis factor 13 0.597 0.654 5.9E-05
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 1999 1999
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
RB binding protein 8, endonuclease 0.584 0.808 3.1E-12
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 699
Gene Symbol: BUB1
BUB1
BUB1 mitotic checkpoint serine/threonine kinase 0.528 0.731 4.9E-09
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 6295
Gene Symbol: SAG
SAG
S-antigen visual arrestin 0.570 0.731 1.5E-16
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 6247
Gene Symbol: RS1
RS1
retinoschisin 1 0.686 0.500 0.96
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
semaphorin 4A 0.569 0.692 1.8E-05
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L
Ski2 like RNA helicase 0.615 0.654 1.3E-22
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
serine protease 56 0.743 0.115 3.4E-04
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 64412
Gene Symbol: GZF1
GZF1
GDNF inducible zinc finger protein 1 0.760 0.231 1.8E-03
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0