GRK1, G protein-coupled receptor kinase 1, 6011

N. diseases: 26; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150678
Disease: OGUCHI DISEASE 2
OGUCHI DISEASE 2
0.800 GeneticVariation disease UNIPROT A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. 17070587 2007
CUI: C3150678
Disease: OGUCHI DISEASE 2
OGUCHI DISEASE 2
0.800 Biomarker disease MGD Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase. 10097103 1999
CUI: C3150678
Disease: OGUCHI DISEASE 2
OGUCHI DISEASE 2
0.800 GeneticVariation disease UNIPROT Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. 9020843 1997
CUI: C3150678
Disease: OGUCHI DISEASE 2
OGUCHI DISEASE 2
0.800 CausalMutation disease CLINVAR
CUI: C3150678
Disease: OGUCHI DISEASE 2
OGUCHI DISEASE 2
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 GeneticVariation disease BEFREE Homozygosity at position 308, which resides in the catalytic domain of the GRK1 gene, is the cause of Oguchi disease in this Turkish family. 27511724 2016
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 GeneticVariation disease BEFREE Oguchi's disease is a rare autosomal recessive disease and known to be caused by mutations in the rhodopsin kinase (GRK1) gene or the arrestin (SAG) gene. 22419846 2012
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 GermlineCausalMutation disease ORPHANET Genetic mapping supported the diagnosis of typical Oguchi disease in a Pakistani family and also resulted in the identification of a novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1. 19753316 2009
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 GeneticVariation disease BEFREE Genetic mapping supported the diagnosis of typical Oguchi disease in a Pakistani family and also resulted in the identification of a novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1. 19753316 2009
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 GeneticVariation disease BEFREE The objective of this study was to describe the ophthalmic features and a novel mutation in the GRK1 (rhodopsin kinase) gene in 2 Japanese patients with Oguchi disease. 17070587 2007
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 GeneticVariation disease BEFREE To report novel mutations in the GRK1 gene in Japanese patients with Oguchi disease. 17765441 2007
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 GeneticVariation disease BEFREE A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene. 16319817 2005
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 Biomarker disease BEFREE Normal deactivation kinetics in human L/M cones can occur without GRK7 when GRK1 is present in ESCS, but does not occur when GRK7 is present but GRK1 is deficient in Oguchi disease. 12601058 2003
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 GeneticVariation disease BEFREE To date, three different mutations in the RK locus have been associated with Oguchi disease, an autosomal recessive form of stationary night blindness in man characterized in part by delayed photoreceptor recovery [Yamamoto, S. , Sippel, K. C., Berson, E. L. & Dryja, T. P. (1997) Nat.Genet.15, 175-178]. 9501174 1998
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 GeneticVariation disease BEFREE We investigated the effects on human vision of a mutation in the RK gene causing Oguchi disease, a recessively inherited retinopathy. 9419375 1998
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 GeneticVariation disease BEFREE Our results indicate that null mutations in the rhodopsin kinase gene are a cause of Oguchi disease and extend the known genetic heterogeneity in congenital stationary night blindness. 9020843 1997
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 GermlineCausalMutation disease ORPHANET Our results indicate that null mutations in the rhodopsin kinase gene are a cause of Oguchi disease and extend the known genetic heterogeneity in congenital stationary night blindness. 9020843 1997
CUI: C1306122
Disease: Oguchi disease
Oguchi disease
0.600 Biomarker disease CTD_human
Night blindness, congenital stationary
0.420 GeneticVariation disease BEFREE Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness. 9501174 1998
Night blindness, congenital stationary
0.420 GeneticVariation disease BEFREE Our results indicate that null mutations in the rhodopsin kinase gene are a cause of Oguchi disease and extend the known genetic heterogeneity in congenital stationary night blindness. 9020843 1997
Night blindness, congenital stationary
0.420 GeneticVariation disease ORPHANET
Night blindness, congenital stationary
0.420 Biomarker disease HPO
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1
0.300 Biomarker disease CTD_human
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental
0.200 Biomarker disease RGD Changes in rhodopsin kinase and transducin in the rat retina in early-stage diabetes. 15939031 2005
CUI: C0018801
Disease: Heart failure
Heart failure
0.200 Biomarker disease RGD Ventricular hypertrophy plus neurohumoral activation is necessary to alter the cardiac beta-adrenoceptor system in experimental heart failure. 12456492 2002