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: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.590 0.517 0.54
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.700 0.933 0 0 1998 2017
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
nicotinamide nucleotide adenylyltransferase 1 0.696 0.207 3.2E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.700 1.000 0 0 2003 2017
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.567 0.448 3.4E-20
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.700 1.000 0 0 2001 2018
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs 1, cell polarity complex component 0.579 0.552 8.4E-16
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.700 0.962 0 0 2001 2018
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
spermatogenesis associated 7 0.652 0.414 9.0E-13
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.660 1.000 0 0 2006 2015
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
RPE65, retinoid isomerohydrolase 0.479 0.759 9.1E-14
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.600 0.983 0 0 1997 2018
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.602 0.621 2.6E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.550 1.000 0 0 2006 2014
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
inosine monophosphate dehydrogenase 1 0.619 0.448 1.0E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.530 1.000 0 0 2006 2014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
aryl hydrocarbon receptor interacting protein like 1 0.656 0.241 1.2E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.500 1.000 0 0 2000 2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.546 0.724 1.8E-54
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.500 1.000 0 0 2006 2017
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
LCA5, lebercilin 0.672 0.241 3.6E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.470 1.000 0 0 1993 2017
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
IQ motif containing B1 0.667 0.414 1.2E-12
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.420 1.000 0 0 2005 2017
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13
potassium voltage-gated channel subfamily J member 13 0.681 0.172 1.1E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.420 1.000 0 0 2016 2016
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
guanylate cyclase 2D, retinal 0.619 0.586 3.2E-09
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.400 0.917 0 0 1996 2017
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.652 0.345 3.1E-09
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.380 1.000 0 0 2004 2018
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
tubby like protein 1 0.636 0.345 5.3E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.360 1.000 0 0 1999 2016
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
growth differentiation factor 6 0.614 0.414 0.99
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.310 1.000 0 0 2013 2013
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
intraflagellar transport 140 0.607 0.552 1.4E-22
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.300 0 0
Entrez Id: 343035
Gene Symbol: RD3
RD3
retinal degeneration 3 0.735 0.172 2.1E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.300 0 0
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
phosphate cytidylyltransferase 1, choline, alpha 0.573 0.690 6.6E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.300 0 0