Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60506
Gene Symbol: NYX
NYX 		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
Entrez Id: 60506
Gene Symbol: NYX
NYX 		0.920 GeneticVariation disease BEFREE We explored if NYX mutations could be associated with high myopia, but not CSNB1A. 23406521 2013
Entrez Id: 60506
Gene Symbol: NYX
NYX 		0.920 Biomarker disease MGD Identification of the gene and the mutation responsible for the mouse nob phenotype. 12506099 2003
Entrez Id: 60506
Gene Symbol: NYX
NYX 		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
Entrez Id: 60506
Gene Symbol: NYX
NYX 		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
Entrez Id: 60506
Gene Symbol: NYX
NYX 		0.920 GeneticVariation disease UNIPROT Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. 11062471 2000
Entrez Id: 60506
Gene Symbol: NYX
NYX 		0.920 Biomarker disease MGD A naturally occurring mouse model of X-linked congenital stationary night blindness. 9804152 1998
Entrez Id: 60506
Gene Symbol: NYX
NYX 		0.920 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 60506
Gene Symbol: NYX
NYX 		0.920 CausalMutation disease CLINVAR
Entrez Id: 60506
Gene Symbol: NYX
NYX 		0.920 Biomarker disease CTD_human
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		0.400 Biomarker disease CTD_human
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		0.400 CausalMutation disease CLINVAR
Entrez Id: 6295
Gene Symbol: SAG
SAG 		0.300 Biomarker disease CTD_human A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 7670478 1995
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.300 Biomarker disease CTD_human Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. 8075643 1994
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.300 Biomarker disease CTD_human Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. 8358437 1993
Entrez Id: 2779
Gene Symbol: GNAT1
GNAT1 		0.300 Biomarker disease CTD_human
Entrez Id: 9187
Gene Symbol: SLC24A1
SLC24A1 		0.300 Biomarker disease CTD_human
Entrez Id: 345193
Gene Symbol: LRIT3
LRIT3 		0.300 Biomarker disease CTD_human
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1 		0.300 Biomarker disease CTD_human
Entrez Id: 2784
Gene Symbol: GNB3
GNB3 		0.300 Biomarker disease CTD_human
Entrez Id: 440435
Gene Symbol: GPR179
GPR179 		0.300 Biomarker disease CTD_human
Entrez Id: 2916
Gene Symbol: GRM6
GRM6 		0.300 Biomarker disease CTD_human
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2 		0.010 Biomarker disease BEFREE Two male siblings from a family of four siblings (two girls, two boys) with non-progressive stable night blindness since early childhood and high myopia underwent - visual acuity test, perimetry, biomicroscopy, OCT, ophthalmoscopy, electroretinography, color vision Hue test, NGS based whole exome analysis and Sanger sequencing for clinical characterization and genetic confirmation of CSNB.<b>Results:</b> The members are clinically diagnosed and genetically confirmed with CSNB1A. 31826698 2019