NYX, nyctalopin, 60506

N. diseases: 36; N. variants: 20
Disease: Nyctalopia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.370 Biomarker disease BEFREE All patients with CSNB1 and only 54% of the patients with CSNB2 reported night blindness. 23714322 2013
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.370 GeneticVariation disease LHGDN Two unrelated male individuals with high myopia but without night blindness were found to have novel Cys48Trp and Arg191Gln mutations in NYX. 17392683 2007
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.370 GeneticVariation disease BEFREE Two unrelated male individuals with high myopia but without night blindness were found to have novel Cys48Trp and Arg191Gln mutations in NYX. 17392683 2007
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.370 Biomarker disease BEFREE Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness. 15331616 2005
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.370 GeneticVariation disease BEFREE Mutations in the gene NYX, which encodes nyctalopin, lead to the retinal disorder congenital stationary night blindness which is characterized by defective night vision (nyctalopia) from birth. 15905181 2005
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.370 GeneticVariation disease LHGDN Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. 15761389 2005
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.370 Biomarker disease MGD Identification of the gene and the mutation responsible for the mouse nob phenotype. 12506099 2003
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.370 GeneticVariation disease LHGDN Mutations in the CACNA1F and NYX genes in British CSNBX families. 12552565 2003
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.370 GeneticVariation disease LHGDN Identification of the gene and the mutation responsible for the mouse nob phenotype. 12506099 2003
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.370 Biomarker disease MGD A naturally occurring mouse model of X-linked congenital stationary night blindness. 9804152 1998
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.370 Biomarker disease HPO