×
Entrez Id:
85015
Gene Symbol:
USP45
USP45
Leber Congenital Amaurosis
0.310
GermlineCausalMutation
ORPHANET
Biallelic mutations in <i>USP45 ,</i> encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis .
30573563
2019
×
Entrez Id:
5130
Gene Symbol:
PCYT1A
PCYT1A
Leber Congenital Amaurosis
0.300
GermlineCausalMutation
ORPHANET
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
28272537
2017
×
Entrez Id:
9742
Gene Symbol:
IFT140
IFT140
Leber Congenital Amaurosis
0.300
GermlineCausalMutation
ORPHANET
Mutations in human IFT140 cause non-syndromic retinal degeneration.
26216056
2015
×
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:
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:
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:
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:
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:
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:
343035
Gene Symbol:
RD3
RD3
Leber Congenital Amaurosis
0.600
GermlineCausalMutation
ORPHANET
Review and update on the molecular basis of Leber congenital amaurosis.
25685757
2015
×
Entrez Id:
145226
Gene Symbol:
RDH12
RDH12
Leber Congenital Amaurosis
0.500
GermlineCausalMutation
ORPHANET
Review and update on the molecular basis of Leber congenital amaurosis.
25685757
2015
×
Entrez Id:
3000
Gene Symbol:
GUCY2D
GUCY2D
Leber Congenital Amaurosis
0.500
GermlineCausalMutation
ORPHANET
Review and update on the molecular basis of Leber congenital amaurosis.
25685757
2015
×
Entrez Id:
392255
Gene Symbol:
GDF6
GDF6
Leber Congenital Amaurosis
0.310
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
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis .
25495949
2016
×
Entrez Id:
392255
Gene Symbol:
GDF6
GDF6
Leber Congenital Amaurosis
0.310
GermlineCausalMutation
ORPHANET
Here we show that mutations in the transforming growth factor-β (TGF-β) ligand Growth Differentiation Factor 6 , which specifies the dorso-ventral retinal axis, contribute to Leber congenital amaurosis .
23307924
2013
×
Entrez Id:
64802
Gene Symbol:
NMNAT1
NMNAT1
Leber Congenital Amaurosis
0.800
GermlineCausalMutation
ORPHANET
NMNAT1 mutations cause Leber congenital amaurosis .
22842227
2012
×
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:
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