Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Night blindness, congenital stationary
0.710 GeneticVariation disease ORPHANET Genotyping microarray for CSNB-associated genes. 19578023 2009
Night blindness, congenital stationary
0.710 GeneticVariation disease BEFREE Of the 22 single point mutations related to retinitis pigmentosa and congenital night blindness located in the cytoplasmatic portion of rhodopsin or in S-arrestin, our models locate 16 in the interaction region and relate two others to possible dimer formation. 18175313 2008
Night blindness, congenital stationary
0.710 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
Night blindness, congenital stationary
0.710 Biomarker disease GENOMICS_ENGLAND
Night blindness, congenital stationary
0.710 Biomarker disease HPO