Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864870
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 3
Night Blindness, Congenital Stationary, Autosomal Dominant 3 		0.700 GeneticVariation disease UNIPROT p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. 17584859 2007
CUI: C1864870
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 3
Night Blindness, Congenital Stationary, Autosomal Dominant 3 		0.700 GeneticVariation disease UNIPROT Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. 8673138 1996
CUI: C1864870
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 3
Night Blindness, Congenital Stationary, Autosomal Dominant 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1864870
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 3
Night Blindness, Congenital Stationary, Autosomal Dominant 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1864870
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 3
Night Blindness, Congenital Stationary, Autosomal Dominant 3 		0.700 CausalMutation disease CLINVAR
CUI: C1864870
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 3
Night Blindness, Congenital Stationary, Autosomal Dominant 3 		0.700 Biomarker disease CTD_human