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: 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: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 6100
Gene Symbol: RP9
RP9
RP9 pre-mRNA splicing factor 0.670 0.500 1.9E-02
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 6094
Gene Symbol: ROM1
ROM1
retinal outer segment membrane protein 1 0.579 0.654 4.1E-04
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5
ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
retinaldehyde binding protein 1 0.644 0.500 1.1E-05
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 5995
Gene Symbol: RGR
RGR
retinal G protein coupled receptor 0.691 0.385 2.4E-10
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
replication factor C subunit 2 0.520 0.769 2.2E-06
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.551 0.500 0.12
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
retinol binding protein 3 0.621 0.500 1.1E-04
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
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: 5921
Gene Symbol: RASA1
RASA1
RAS p21 protein activator 1 0.481 0.885 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
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: 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: 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
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.100 None 0 0
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: 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: 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: 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: 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: 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