Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.810 GeneticVariation BEFREE NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. 29674119 2018
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		A 0.810 CausalMutation CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803 2016
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		A 0.810 CausalMutation CLINVAR Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. 26018082 2015
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		A 0.810 CausalMutation CLINVAR Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. 26103963 2015
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		A 0.810 CausalMutation CLINVAR Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. 24940029 2014
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		A 0.810 CausalMutation CLINVAR Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. 24830548 2014
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		A 0.810 CausalMutation CLINVAR Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. 24625443 2014
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.810 GeneticVariation UNIPROT Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 22842230 2012
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		A 0.810 CausalMutation CLINVAR Genomic stability in reprogramming. 23040504 2012
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.810 GeneticVariation UNIPROT Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229 2012
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.810 GeneticVariation UNIPROT NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		A 0.810 CausalMutation CLINVAR Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229 2012
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		A 0.810 CausalMutation CLINVAR Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		A 0.810 CausalMutation CLINVAR Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 22842230 2012
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		A 0.810 CausalMutation CLINVAR NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012
dbSNP: rs150726175
rs150726175
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.810 GeneticVariation UNIPROT Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
dbSNP: rs142968179
rs142968179
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.800 GeneticVariation UNIPROT NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012
dbSNP: rs142968179
rs142968179
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229 2012
dbSNP: rs142968179
rs142968179
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 22842230 2012
dbSNP: rs142968179
rs142968179
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.800 GeneticVariation UNIPROT Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
dbSNP: rs368062092
rs368062092
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.800 GeneticVariation UNIPROT Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
dbSNP: rs368062092
rs368062092
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 22842230 2012
dbSNP: rs368062092
rs368062092
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229 2012
dbSNP: rs368062092
rs368062092
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.800 GeneticVariation UNIPROT NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012
dbSNP: rs778606847
rs778606847
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease:
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.800 GeneticVariation UNIPROT Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012