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 0.565 0.692 0.51
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.800 strong 0.955 2 0 1998 2019
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.800 strong 0.971 1 0 2001 2019
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.500 None 0.971 1 0 1996 2020
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.800 definitive 0.989 2 0 1997 2020
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
TUB like protein 1 0.623 0.462 5.7E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.660 strong 1.000 2 0 1999 2016
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.800 limited 1.000 2 0 2003 2018
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.800 strong 1.000 2 0 2001 2019
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
spermatogenesis associated 7 0.656 0.385 5.2E-13
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.670 strong 1.000 2 0 2005 2018
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.608 0.654 2.8E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.650 None 1.000 2 0 2006 2015
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
growth differentiation factor 6 0.587 0.500 0.99
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.310 None 1.000 2 0 2013 2015
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13
potassium inwardly rectifying channel subfamily J member 13 0.659 0.308 1.4E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.650 strong 1.000 2 0 2011 2019
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
inosine monophosphate dehydrogenase 1 0.623 0.462 5.8E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.630 strong 1.000 2 0 2006 2015
Entrez Id: 343035
Gene Symbol: RD3
RD3
retinal degeneration 3, GUCY2D regulator 0.700 0.308 2.6E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.600 strong 1.000 2 0 2006 2015
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.680 strong 1.000 2 0 2005 2019
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.680 strong 1.000 2 0 2003 2018
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.500 None 1.000 2 0 2004 2019
Entrez Id: 85015
Gene Symbol: USP45
USP45
ubiquitin specific peptidase 45 0.792 0.154 1.4E-17
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.310 None 1.000 1 0 2019 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.700 strong 1.000 1 0 2006 2019
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
aryl hydrocarbon receptor interacting protein like 1 0.644 0.346 1.2E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.700 strong 1.000 1 0 2000 2019
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.300 None 1.000 1 0 2015 2015