Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.730 GeneticVariation disease BEFREE Our work confirms that the phenotype and the mode of inheritance associated with GNAT1 variants can vary from autosomal dominant, autosomal recessive congenital stationary night blindness to autosomal recessive rod-cone dystrophy. 27977773 2016
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.730 GermlineCausalMutation disease ORPHANET GNAT1 associated with autosomal recessive congenital stationary night blindness. 22190596 2012
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.730 GeneticVariation disease BEFREE GNAT1 associated with autosomal recessive congenital stationary night blindness. 22190596 2012
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.730 GeneticVariation disease BEFREE In a multigeneration Danish family with adCSNB, we identified a novel heterozygous C to G transversion (c.598C>G) in exon 6 of GNAT1 that should result in a p.Gln200Glu substitution in the evolutionarily highly conserved Switch 2 region of alpha-transducin, a domain that has an important role in binding and hydrolyzing GTP. 17584859 2007
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.730 GermlineCausalMutation disease ORPHANET Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. 8673138 1996
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.730 Biomarker disease HPO
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.730 Biomarker disease CTD_human
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
CUI: C4225345
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G 		0.600 GeneticVariation disease UNIPROT GNAT1 associated with autosomal recessive congenital stationary night blindness. 22190596 2012
CUI: C4225345
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G 		0.600 CausalMutation disease CLINVAR
CUI: C4225345
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C1848172
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.300 Biomarker disease CTD_human
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		0.300 Biomarker disease CTD_human
CUI: C1864877
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder) 		0.300 Biomarker disease CTD_human
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		0.300 Biomarker disease CTD_human
CUI: C3501847
Disease: Night blindness, congenital stationary, type 1
Night blindness, congenital stationary, type 1 		0.300 Biomarker disease CTD_human
CUI: C3711543
Disease: X-Linked Csnb
X-Linked Csnb 		0.300 Biomarker disease CTD_human