×
Entrez Id:
6121
Gene Symbol:
RPE65
RPE65
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
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
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
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
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
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
Leber Congenital Amaurosis
0.800
GermlineCausalMutation
ORPHANET
NMNAT1 mutations cause Leber congenital amaurosis .
22842227
2012
×
Entrez Id:
57096
Gene Symbol:
RPGRIP1
RPGRIP1
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
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
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
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
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
Leber Congenital Amaurosis
0.680
GermlineCausalMutation
ORPHANET
IQCB1 mutations in patients with leber congenital amaurosis .
20881296
2011
×
Entrez Id:
9657
Gene Symbol:
IQCB1
IQCB1
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
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
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
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
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
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
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
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
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
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
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
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