NYX, nyctalopin, 60506

N. diseases: 36; N. variants: 20
Disease: Night Blindness, Congenital Stationary, Type 1A ×
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