NYX, nyctalopin, 60506

N. diseases: 36; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.920 GeneticVariation disease BEFREE All the patients had a novel frameshift mutation in the NYX gene (c.283delC, p.His95fs, NM_022567.2) that is found to segregate in X-linked manner<b>Conclusions:</b> This is probably the first case report with a novel mutation from Russia associated with CSNB1A. 31826698 2019
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.920 GeneticVariation disease BEFREE We explored if NYX mutations could be associated with high myopia, but not CSNB1A. 23406521 2013
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.920 Biomarker disease MGD Identification of the gene and the mutation responsible for the mouse nob phenotype. 12506099 2003
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.920 Biomarker disease GENOMICS_ENGLAND The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. 11062472 2000
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.920 GeneticVariation disease UNIPROT The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. 11062472 2000
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.920 GeneticVariation disease UNIPROT Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. 11062471 2000
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.920 Biomarker disease MGD A naturally occurring mouse model of X-linked congenital stationary night blindness. 9804152 1998
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.920 CausalMutation disease CLINVAR
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.920 Biomarker disease CTD_human
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 GeneticVariation disease BEFREE Three remaining genes were excluded based on sequencing the open reading frame and intron-exon boundaries (RHO, NYX), causal to a different form of CSNB (RHO) or X-chromosome (NYX, CACNA1F) location. 26368928 2015
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 GeneticVariation disease BEFREE To investigate the relative frequency of the genetic causes of the Schubert-Bornschein type of congenital stationary night blindness (CSNB) and to determine the genotype-phenotype correlations in CSNB1 and CSNB2. 23714322 2013
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 GeneticVariation disease BEFREE Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation. 23289809 2013
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 GeneticVariation disease BEFREE They also suggest that NYX mutations are a common cause of CSNB. 22735794 2012
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 GeneticVariation disease BEFREE We analyzed four different Japanese patients with complete CSNB in whom previous molecular examination revealed no mutation in either nyctalopin (NYX) or glutamate receptor, metabotropic 6 (GRM6). 20300565 2010
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 Biomarker disease BEFREE Mutations in this gene have been implicated in the development of congenital stationary night blindness type 1 (CSNB1). 19666700 2009
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 Biomarker disease BEFREE Mutations in the NYX gene that encodes the protein nyctalopin cause congenital stationary night blindness type 1. 17881478 2007
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 Biomarker disease BEFREE The genomic sequence of NYX in 52 male probands with high myopia but without CSNB was analyzed through direct DNA sequencing. 17392683 2007
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 Biomarker disease BEFREE Multifocal oscillatory potentials in CSNB1 and CSNB2 type congenital stationary night blindness. 15583843 2005
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 Biomarker disease BEFREE The results implicated a specific on-pathway signaling deficiency in CSNB1-NYX males with no evidence of off-pathway involvement. 15331616 2005
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 GeneticVariation disease BEFREE NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. 14507859 2003
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 GeneticVariation disease BEFREE To study the slow and fast rod signals of the scotopic 15-Hz flicker ERG in patients carrying mutations in the NYX gene, which has been recently identified as the cause of the complete form of congenital stationary night blindness, CSNB1. 11581222 2001
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 GeneticVariation disease BEFREE The role of other SLRP proteins suggests that mutant nyctalopin disrupts developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. 11062471 2000
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 Biomarker disease CTD_human