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: 197258
Gene Symbol: FCSK
FCSK
fucose kinase 0.769 0.192 1.0E-29
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2
iron-sulfur cluster assembly 2 0.743 0.231 2.4E-08
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 23769
Gene Symbol: FLRT1
FLRT1
fibronectin leucine rich transmembrane protein 1 0.780 0.231 0.36
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
cyclic nucleotide gated channel subunit alpha 1 0.695 0.269 2.8E-11
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
phosphodiesterase 6A 0.691 0.269 6.6E-25
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
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: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.410 None 1.000 0 0 2012 2012
Entrez Id: 768206
Gene Symbol: PRCD
PRCD
photoreceptor disc component 0.700 0.269 1.6E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 79797
Gene Symbol: ZNF408
ZNF408
zinc finger protein 408 0.678 0.269 1.2E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 84233
Gene Symbol: TMEM126A
TMEM126A
transmembrane protein 126A 0.805 0.269 2.2E-03
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.160 None 1.000 0 0 2009 2019
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11
NADH:ubiquinone oxidoreductase subunit A11 0.705 0.308 1.8E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
Rho/Rac guanine nucleotide exchange factor 18 0.700 0.308 1.8E-03
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
ceramide kinase like 0.678 0.308 9.8E-25
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4539
Gene Symbol: ND4L
ND4L
NADH dehydrogenase, subunit 4L (complex I) 0.805 0.308
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
interphotoreceptor matrix proteoglycan 2 0.659 0.308 2.8E-13
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 5148
Gene Symbol: PDE6G
PDE6G
phosphodiesterase 6G 0.695 0.308 1.3E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 55857
Gene Symbol: KIZ
KIZ
kizuna centrosomal protein 0.722 0.308
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 57709
Gene Symbol: SLC7A14
SLC7A14
solute carrier family 7 member 14 0.695 0.308 2.2E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
FAM161 centrosomal protein A 0.691 0.308 5.1E-13
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6
tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46
solute carrier family 25 member 46 0.695 0.308 1.3E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.440 None 1.000 0 0 2015 2018
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
cadherin related family member 1 0.670 0.308 2.8E-21
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 125988
Gene Symbol: MICOS13
MICOS13
mitochondrial contact site and cristae organizing system subunit 13 0.736 0.346 8.3E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0