Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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