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: C1845977
Disease: X- linked recessive
X- linked recessive 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		0.100 Biomarker disease HPO
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.130 GeneticVariation disease BEFREE Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1. 25802485 2015
CUI: C0027092
Disease: Myopia
Myopia 		0.130 GeneticVariation disease BEFREE Myopia is a complex eye disorder.The X-linked form of complete congenital stationary night blindness (CSNB1A) is usually associated with moderate to high myopia, and is caused by mutations in the NYX gene. 23406521 2013
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.130 GeneticVariation disease BEFREE The coding regions of the NYX gene were sequenced for 204 Chinese males with high myopia (-8.00 dioptres or worse for both eyes). 23406521 2013
CUI: C0027092
Disease: Myopia
Myopia 		0.130 Biomarker disease BEFREE The observations suggest that NYX may have independent effects on myopia and night blindness. 17392683 2007
CUI: C0027092
Disease: Myopia
Myopia 		0.130 GeneticVariation disease LHGDN Mutations in NYX of individuals with high myopia, but without night blindness. 17392683 2007
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.130 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: C0027092
Disease: Myopia
Myopia 		0.130 GeneticVariation disease BEFREE The importance of associated myopia with NYX mutations is discussed. 16670814 2006
CUI: C0027092
Disease: Myopia
Myopia 		0.130 Biomarker disease HPO
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.130 Biomarker disease HPO
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		0.300 Biomarker disease CTD_human
CUI: C1864877
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder) 		0.300 Biomarker disease CTD_human
CUI: C3501847
Disease: Night blindness, congenital stationary, type 1
Night blindness, congenital stationary, type 1 		0.300 Biomarker disease CTD_human
CUI: C4041558
Disease: Cone-rod synaptic disorder, congenital nonprogressive
Cone-rod synaptic disorder, congenital nonprogressive 		0.300 Biomarker disease CTD_human
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 GeneticVariation group BEFREE Myopia is a complex eye disorder.The X-linked form of complete congenital stationary night blindness (CSNB1A) is usually associated with moderate to high myopia, and is caused by mutations in the NYX gene. 23406521 2013
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C3711543
Disease: X-Linked Csnb
X-Linked Csnb 		0.340 GeneticVariation disease BEFREE A common NYX mutation in Flemish patients with X linked CSNB. 18617546 2009
CUI: C3711543
Disease: X-Linked Csnb
X-Linked Csnb 		0.340 GeneticVariation disease BEFREE Here we have studied 22 families with 'complete' X-linked CSNB (CSNB1; MIM 310500; ref. 11062471 2000
CUI: C3711543
Disease: X-Linked Csnb
X-Linked Csnb 		0.340 Biomarker disease BEFREE Genetic and clinical analyses of this set of 32 families with X-linked CSNB, together with the family studies reported in the literature, strongly suggest that two loci, one for complete (CSNB1) and one for incomplete (CSNB2) X-linked CSNB, can account for all reported mapping information. 9529339 1998
CUI: C3711543
Disease: X-Linked Csnb
X-Linked Csnb 		0.340 GeneticVariation disease BEFREE The apparent clinical heterogeneity in X-linked CSNB reflects the recently described genetic heterogeneity in which the locus for complete CSNB (CSNB1) was mapped to Xp11.4, and the locus for incomplete CSNB (CSNB2) was refined within Xp11.23 (ref.5). 9662400 1998