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: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.010 Biomarker phenotype BEFREE Here we test the contribution of a minimal asparagine ladder from the leucine-rich repeat protein pp32 to stability and investigate lattice rigidity and hydrogen bond character using solution nuclear magnetic resonance (NMR) spectroscopy. 31347358 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE By utilizing distinct interaction sites differentially, SV-CLRPs target a plethora of molecules, such as distinct coagulation factors and receptors of platelets and endothelial cells that are involved in hemostasis, thrombus formation, inflammation and hematogenous metastasis. 30823637 2019
CUI: C0007682
Disease: CNS disorder
CNS disorder 		0.010 Biomarker group BEFREE NYX-2925, like rapastinel, activates an NMDA receptor-mediated synaptic plasticity process and may have therapeutic potential for a variety of NMDA receptor-mediated central nervous system disorders. 29099938 2018
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.010 Biomarker phenotype BEFREE However, ERG testing revealed an ERG phenotype unusual for Stargardt disease but consistent with CSNB1. 24397708 2014
CUI: C0023418
Disease: leukemia
leukemia 		0.010 AlteredExpression disease BEFREE Leucine-rich repeat protein PRAME: expression, potential functions and clinical implications for leukaemia. 20799951 2010
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.010 GeneticVariation disease BEFREE This paper reviews the new finding of LCA from mutations of CRB1 and discusses the molecular basis of X-linked blue monochromacy, autosomal recessive congenital achromatopsia from mutations of the genes for ACHM2 (CNGA3) and ACHM3 (CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (complete CSNB), and the enhanced S-cone syndrome from mutation of the developmental gene, NR2E3 at 15q23, which appears to regulate the development of M- and L-cones from S-cones. 12187427 2002
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.010 GeneticVariation disease BEFREE This paper reviews the new finding of LCA from mutations of CRB1 and discusses the molecular basis of X-linked blue monochromacy, autosomal recessive congenital achromatopsia from mutations of the genes for ACHM2 (CNGA3) and ACHM3 (CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (complete CSNB), and the enhanced S-cone syndrome from mutation of the developmental gene, NR2E3 at 15q23, which appears to regulate the development of M- and L-cones from S-cones. 12187427 2002
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.010 GeneticVariation disease BEFREE This paper reviews the new finding of LCA from mutations of CRB1 and discusses the molecular basis of X-linked blue monochromacy, autosomal recessive congenital achromatopsia from mutations of the genes for ACHM2 (CNGA3) and ACHM3 (CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (complete CSNB), and the enhanced S-cone syndrome from mutation of the developmental gene, NR2E3 at 15q23, which appears to regulate the development of M- and L-cones from S-cones. 12187427 2002
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.010 GeneticVariation disease BEFREE This paper reviews the new finding of LCA from mutations of CRB1 and discusses the molecular basis of X-linked blue monochromacy, autosomal recessive congenital achromatopsia from mutations of the genes for ACHM2 (CNGA3) and ACHM3 (CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (complete CSNB), and the enhanced S-cone syndrome from mutation of the developmental gene, NR2E3 at 15q23, which appears to regulate the development of M- and L-cones from S-cones. 12187427 2002
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.010 GeneticVariation disease BEFREE This paper reviews the new finding of LCA from mutations of CRB1 and discusses the molecular basis of X-linked blue monochromacy, autosomal recessive congenital achromatopsia from mutations of the genes for ACHM2 (CNGA3) and ACHM3 (CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (complete CSNB), and the enhanced S-cone syndrome from mutation of the developmental gene, NR2E3 at 15q23, which appears to regulate the development of M- and L-cones from S-cones. 12187427 2002
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 GeneticVariation group BEFREE X-linked congenital stationary night blindness (CSNBX) is a hereditary non-progressive retinal disorder, which can appear in two different clinical forms, complete and incomplete, associated with CSNB1 and CSNB2 loci on Xp. 10439964 1999
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 Biomarker disease BEFREE Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp. 9418727 1997
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.010 GeneticVariation disease BEFREE CSNB4 is not allelic with any previously reported XLRP loci; however, the interval overlaps the locus reported to contain the cone dystrophy (COD1) gene, and both diseases are nonrecombinant with DXS993. 9418727 1997
CUI: C4048798
Disease: Complete congenital stationary night blindness
Complete congenital stationary night blindness 		0.070 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: C4048798
Disease: Complete congenital stationary night blindness
Complete congenital stationary night blindness 		0.070 GeneticVariation disease BEFREE To document a novel NYX gene mutation in a patient with X-linked complete congenital stationary night blindness and to describe this patient's electroretinogram (ERG) characteristics. 23289809 2013
CUI: C4048798
Disease: Complete congenital stationary night blindness
Complete congenital stationary night blindness 		0.070 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: C4048798
Disease: Complete congenital stationary night blindness
Complete congenital stationary night blindness 		0.070 GeneticVariation disease BEFREE In the affected individuals of three Flemish families with the complete form of CSNB a novel NYX mutation, c.855delG was identified. 18617546 2009
CUI: C4048798
Disease: Complete congenital stationary night blindness
Complete congenital stationary night blindness 		0.070 Biomarker disease BEFREE We describe the isolation and molecular characterization of the chick ortholog of nyctalopin (NYX), the gene responsible for X-linked complete congenital stationary night blindness (CSNB1, also known as cCSNB). 16261423 2005
CUI: C4048798
Disease: Complete congenital stationary night blindness
Complete congenital stationary night blindness 		0.070 GeneticVariation disease BEFREE Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. 11062471 2000
CUI: C4048798
Disease: Complete congenital stationary night blindness
Complete congenital stationary night blindness 		0.070 Biomarker disease BEFREE We also recommend that the gene symbols CSNB1 and CSNB2 be used for complete congenital stationary night blindness and Aland disease, respectively. 2667510 1989
CUI: C0018975
Disease: Hemeralopia
Hemeralopia 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C1298695
Disease: Hypoplasia of optic disc
Hypoplasia of optic disc 		0.100 Biomarker disease HPO