Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
CUI: C0339527
Disease: Leber Congenital Amaurosis
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
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.300 GermlineCausalMutation ORPHANET Mutations in human IFT140 cause non-syndromic retinal degeneration. 26216056

2015
Entrez Id: 85015
Gene Symbol: USP45
USP45
CUI: C0339527
Disease: Leber Congenital Amaurosis
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: 392255
Gene Symbol: GDF6
GDF6
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.310 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C0339527
Disease: Leber Congenital Amaurosis
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: 145226
Gene Symbol: RDH12
RDH12
CUI: C0339527
Disease: Leber Congenital Amaurosis
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
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GermlineCausalMutation ORPHANET Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982

2004
Entrez Id: 343035
Gene Symbol: RD3
RD3
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.600 GermlineCausalMutation ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757

2015
Entrez Id: 343035
Gene Symbol: RD3
RD3
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.600 GermlineCausalMutation ORPHANET Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. 17186464

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
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: 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: 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: 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: 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