Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.800 GermlineCausalMutation ORPHANET RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis. 25495949

2016

Entrez Id: 23418
Gene Symbol: CRB1
CRB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.800 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.800 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.800 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.800 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.800 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.800 GermlineCausalMutation ORPHANET NMNAT1 mutations cause Leber congenital amaurosis. 22842227

2012

Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.800 GermlineCausalMutation ORPHANET Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. 11528500

2001

Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.800 GermlineCausalMutation ORPHANET Mutant alleles of the CRX gene have recently been associated with autosomal dominant cone-rod dystrophy (CORD) as well as dominant Leber congenital amaurosis (LCA). 9931337

1999

Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.700 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.700 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 167691
Gene Symbol: LCA5
LCA5
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.680 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.680 GermlineCausalMutation ORPHANET IQCB1 mutations in patients with leber congenital amaurosis. 20881296

2011

Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.680 GermlineCausalMutation ORPHANET Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. 21901789

2011

Entrez Id: 167691
Gene Symbol: LCA5
LCA5
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.680 GermlineCausalMutation ORPHANET Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. 17546029

2007

Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.670 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.670 GermlineCausalMutation ORPHANET Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. 19268277

2009

Entrez Id: 7287
Gene Symbol: TULP1
TULP1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.660 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 7287
Gene Symbol: TULP1
TULP1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.660 GermlineCausalMutation ORPHANET Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. 17962469

2007

Entrez Id: 9227
Gene Symbol: LRAT
LRAT
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.650 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.650 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.650 GermlineCausalMutation ORPHANET Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. 21763485

2011

Entrez Id: 9227
Gene Symbol: LRAT
LRAT
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.650 GermlineCausalMutation ORPHANET Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. 17011878

2006

Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.630 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015

Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
0.630 GermlineCausalMutation ORPHANET The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA). 16384941

2006