Gene: NMNAT1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease BEFREE Variants in NMNAT1 cause a severe, early-onset retinal dystrophy called Leber congenital amaurosis (LCA). 29184169 2018
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease BEFREE Biallelic NMNAT1 mutations cause Leber congenital amaurosis with a central nummular macular atrophic lesion (LCA9). 28369829 2018
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease BEFREE NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. 29674119 2018
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease BEFREE Leber congenital amaurosis (LCA) is a severe, genetically heterogeneous dystrophy of the retina and mutations in the nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1) gene is one of causal factors of LCA. 30166529 2018
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 Biomarker disease BEFREE These mouse models offer an opportunity for investigating the cellular mechanisms underlying disease pathogenesis, evaluating potential therapies for NMNAT1-Leber congenital amaurosis, and conducting in situ studies on NMNAT1 function and NAD(+) metabolism. 27207593 2016
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 Biomarker disease BEFREE Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature. 26464178 2015
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 Biomarker disease BEFREE Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. 26018082 2015
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease BEFREE A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing. 25988908 2015
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GermlineCausalMutation disease ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757 2015
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 CausalMutation disease CLINVAR Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. 26018082 2015
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease BEFREE Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. 24830548 2014
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease BEFREE We successfully identified causative mutations in patients from the Chinese families with RDS: the known mutation IMPDH1 c.942_944delGAA in a family with retinitis pigmentosa, the novel mutation ABCA4 c.1924T>A in a family with Stargardt disease, and the novel mutation NMNAT1 c.272A>G and known mutation NMNAT1 c.196C>T in a family with Leber congenital amaurosis. 24791140 2014
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 CausalMutation disease CLINVAR Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. 24830548 2014
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease BEFREE Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. 24940029 2014
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease CLINVAR Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease BEFREE NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 Biomarker disease CTD_human Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 Biomarker disease CTD_human Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GermlineCausalMutation disease ORPHANET NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 CausalMutation disease CLINVAR Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease BEFREE Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 CausalMutation disease CLINVAR Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 22842230 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease BEFREE Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 22842230 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 GeneticVariation disease BEFREE Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 Biomarker disease CTD_human Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 22842230 2012