Gene: NMNAT1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 CLINVAR 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 with early-onset severe macular and optic atrophy. 22842229 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 CausalMutation disease CLINVAR Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.800 CausalMutation disease CLINVAR NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012