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: 80055
Gene Symbol: PGAP1
PGAP1
post-GPI attachment to proteins inositol deacylase 1 0.650 0.423 3.2E-08
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.120 None 1.000 0 0 2015 2016
Entrez Id: 7025
Gene Symbol: NR2F1
NR2F1
nuclear receptor subfamily 2 group F member 1 0.656 0.654 0.99
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 56776
Gene Symbol: FMN2
FMN2
formin 2 0.610 0.538 1.00
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
coiled-coil domain containing 47 0.678 0.462 6.1E-08
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 57102
Gene Symbol: C12orf4
C12orf4
chromosome 12 open reading frame 4 0.691 0.308 1.1E-05
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
decaprenyl diphosphate synthase subunit 2 0.626 0.577 4.4E-08
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 4761
Gene Symbol: NEUROD2
NEUROD2
neuronal differentiation 2 0.619 0.538 0.94
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 57731
Gene Symbol: SPTBN4
SPTBN4
spectrin beta, non-erythrocytic 4 0.686 0.462 1.00
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 6249
Gene Symbol: CLIP1
CLIP1
CAP-Gly domain containing linker protein 1 0.617 0.654 0.68
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 6301
Gene Symbol: SARS1
SARS1
seryl-tRNA synthetase 1 0.558 0.769 1.00
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.606 0.654 2.6E-03
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 55180
Gene Symbol: LINS1
LINS1
lines homolog 1 0.691 0.231 2.4E-07
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 50651
Gene Symbol: SLC45A1
SLC45A1
solute carrier family 45 member 1 0.674 0.269 2.5E-05
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12
trafficking protein particle complex 12 0.751 0.385 5.4E-16
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 51185
Gene Symbol: CRBN
CRBN
cereblon 0.551 0.654 2.9E-04
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 51227
Gene Symbol: PIGP
PIGP
phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 51319
Gene Symbol: RSRC1
RSRC1
arginine and serine rich coiled-coil 1 0.650 0.462 7.5E-05
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
phosphatidylinositol glycan anchor biosynthesis class A 0.575 0.654 0.96
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 5279
Gene Symbol: PIGC
PIGC
phosphatidylinositol glycan anchor biosynthesis class C 0.691 0.346 5.5E-03
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease 0.100 None 0 0