Source: INFERRED

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: 22926
Gene Symbol: ATF6
ATF6
activating transcription factor 6 0.516 0.846 3.2E-07
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.400 None 1.000 0 0 2015 2015
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.200 None 1.000 0 0 2005 2019
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.160 None 1.000 0 0 2000 2019
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
guanylate cyclase activator 1A 0.647 0.500 4.1E-04
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.120 None 1.000 0 0 2002 2018
Entrez Id: 2979
Gene Symbol: GUCA1B
GUCA1B
guanylate cyclase activator 1B 0.682 0.423 2.1E-04
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.120 None 1.000 0 0 2002 2018
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.120 None 1.000 0 0 2018 2019
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
cyclic nucleotide gated channel subunit alpha 3 0.650 0.154 8.0E-20
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.120 None 1.000 0 2 2008 2008
Entrez Id: 6898
Gene Symbol: TAT
TAT
tyrosine aminotransferase 0.492 0.846 6.9E-03
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.110 None 1.000 0 0 2011 2011
Entrez Id: 5429
Gene Symbol: POLH
POLH
DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.110 None 1.000 0 0 2000 2000
Entrez Id: 8787
Gene Symbol: RGS9
RGS9
regulator of G protein signaling 9 0.722 0.308 1.1E-14
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.110 None 1.000 0 0 2007 2007
Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4
cyclin and CBS domain divalent metal cation transport mediator 4 0.695 0.346 2.9E-07
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.110 None 1.000 0 0 2016 2016
Entrez Id: 1497
Gene Symbol: CTNS
CTNS
cystinosin, lysosomal cystine transporter 0.628 0.538 3.1E-04
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.110 None 1.000 0 0 1999 1999
Entrez Id: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.516 0.808 4.0E-12
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.110 None 1.000 0 0 1994 1994
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.110 None 1.000 0 0 2002 2002
Entrez Id: 6094
Gene Symbol: ROM1
ROM1
retinal outer segment membrane protein 1 0.579 0.654 4.1E-04
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 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: C0085636
Disease: Photophobia
Photophobia
phenotype 0.100 None 0 0
Entrez Id: 57010
Gene Symbol: CABP4
CABP4
calcium binding protein 4 0.711 0.154 1.7E-10
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.100 None 0 0
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
retinaldehyde binding protein 1 0.644 0.500 1.1E-05
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 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: C0085636
Disease: Photophobia
Photophobia
phenotype 0.100 None 0 0
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 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: C0085636
Disease: Photophobia
Photophobia
phenotype 0.100 None 0 0
Entrez Id: 64834
Gene Symbol: ELOVL1
ELOVL1
ELOVL fatty acid elongase 1 0.760 0.385 0.68
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.100 None 0 0
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.100 None 0 0
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
semaphorin 4A 0.569 0.692 1.8E-05
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype 0.100 None 0 0