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: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 55857
Gene Symbol: KIZ
KIZ
kizuna centrosomal protein 0.722 0.308
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
pericentrin 0.564 0.808 4.0E-58
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
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: 346007
Gene Symbol: EYS
EYS
eyes shut homolog 0.631 0.538 3.7E-41
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
cyclic nucleotide gated channel subunit beta 1 0.628 0.538 1.8E-37
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
intraflagellar transport 172 0.582 0.654 3.3E-33
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
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: 9652
Gene Symbol: TTC37
TTC37
tetratricopeptide repeat domain 37 0.626 0.654 1.7E-29
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.546 0.846 2.1E-27
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
centrosomal protein 152 0.653 0.500 2.7E-27
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
phosphodiesterase 6A 0.691 0.269 6.6E-25
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
ceramide kinase like 0.678 0.308 9.8E-25
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
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: 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: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
cadherin related family member 1 0.670 0.308 2.8E-21
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0