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: 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 6 5 2003 2018
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 1 2 1998 2019
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 1 10 2001 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 9 2001 2019
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 0 8 1997 2020
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 2 8 2006 2019
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 2 5 2000 2019
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 4 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 5 2003 2018
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 0 1 1999 2016
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 0 1 2011 2019
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 0 1 2006 2015
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 5 1996 2020
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 0 2 2004 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.120 None 1.000 2 2 1998 2014
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.100 None 1.000 2 3 2000 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2916
Gene Symbol: GRM6
GRM6
glutamate metabotropic receptor 6 0.700 0.308 4.5E-17
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 8787
Gene Symbol: RGS9
RGS9
regulator of G protein signaling 9 0.722 0.308 1.1E-14
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
cadherin related family member 1 0.670 0.308 2.8E-21
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 146167
Gene Symbol: SLC38A8
SLC38A8
solute carrier family 38 member 8 0.743 0.269 3.3E-24
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.100 None 0 1
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
clusterin associated protein 1 0.805 0.231 4.2E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.100 None 0 1
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
zinc finger FYVE-type containing 26 0.636 0.615 4.7E-23
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.100 None 0 1
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.100 None 0 3
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease 0.100 None 0 1