rs150726175, NMNAT1

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEBER CONGENITAL AMAUROSIS 9 (disorder)
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
LEBER CONGENITAL AMAUROSIS 9 (disorder)
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
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 GeneticVariation UNIPROT NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012
LEBER CONGENITAL AMAUROSIS 9 (disorder)
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
LEBER CONGENITAL AMAUROSIS 9 (disorder)
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
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
0.720 GeneticVariation BEFREE NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. 29674119 2018
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
0.720 GeneticVariation BEFREE The p.Glu257Lys variant was 80-fold less frequent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity frequency in the European American population. 24830548 2014
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
0.720 GeneticVariation CLINVAR Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
Severe visual impairment
CUI: C1301509
Disease: Severe visual impairment
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Diarrhea
CUI: C0011991
Disease: Diarrhea
0.700 GeneticVariation CLINVAR
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
0.700 GeneticVariation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 GeneticVariation CLINVAR
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 GeneticVariation CLINVAR
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 GeneticVariation CLINVAR
Autosomal recessive retinitis pigmentosa
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
0.010 GeneticVariation BEFREE The p.E257K alteration was also found in a heterozygous state in five individuals with LCA and one with RP while no mutation was detected on the other allele. 24940029 2014
Amaurosis congenita of Leber, type 1
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
0.010 GeneticVariation BEFREE The enrichment of p.E257K in a heterozygous state in patients with LCA versus controls suggests that this allele could act as a modifier in other genetic subtypes of LCA. 24940029 2014
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR Genomic stability in reprogramming. 23040504 2012
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. 24940029 2014
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229 2012
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. 24830548 2014
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803 2016
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. 26018082 2015
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
0.810 CausalMutation CLINVAR Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 22842230 2012