Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 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 		0.940 GeneticVariation disease BEFREE One of the most common alleles reported so far in NMNAT1 is the c.769G > A (E257K) missense mutation, which occurs in 70% of all LCA9 cases. 29674119 2018
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 Biomarker disease MGD One of the most common alleles reported so far in NMNAT1 is the c.769G > A (E257K) missense mutation, which occurs in 70% of all LCA9 cases. 29674119 2018
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 Biomarker disease GENOMICS_ENGLAND The NMNAT1 mutation reported here underlied cone-rod dystrophy rather than LCA but the fundus lesion was compatible with that of LCA9 patients, highlighting that such a fundus appearance should raise suspicion for biallelic mutations in NMNAT1 when in the context of any retinal dystrophy. 28369829 2018
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 Biomarker disease MGD Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. 27207593 2016
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 CausalMutation disease CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803 2016
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 GeneticVariation disease BEFREE Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. 27207593 2016
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 GeneticVariation disease BEFREE Leber congenital amaurosis 9 (LCA9) is an autosomal recessive retinal degeneration condition caused by mutations in the NAD(+) biosynthetic enzyme NMNAT1. 26018082 2015
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 CausalMutation disease CLINVAR Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. 26103963 2015
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 CausalMutation disease CLINVAR Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. 26018082 2015
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 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 		0.940 CausalMutation disease CLINVAR Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. 24940029 2014
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 CausalMutation disease CLINVAR Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. 24625443 2014
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 GeneticVariation disease UNIPROT NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 GeneticVariation disease UNIPROT Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 CausalMutation disease CLINVAR Genomic stability in reprogramming. 23040504 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 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 		0.940 GeneticVariation disease UNIPROT 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 		0.940 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 		0.940 CausalMutation disease CLINVAR NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 CausalMutation disease CLINVAR Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 GeneticVariation disease UNIPROT Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 Biomarker disease GENOMICS_ENGLAND Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. 12734549 2003
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 Biomarker disease CTD_human
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.940 Biomarker disease GENOMICS_ENGLAND