Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.300 GeneticVariation disease UNIPROT
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		0.050 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 		0.050 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 		0.050 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 		0.050 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 		0.050 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: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.020 GeneticVariation disease BEFREE Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness. 9501174 1998
CUI: C3551052
Disease: Night blindness, stationary
Night blindness, stationary 		0.020 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: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.020 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: C3551052
Disease: Night blindness, stationary
Night blindness, stationary 		0.020 GeneticVariation disease BEFREE Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. 9020843 1997
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		0.010 GeneticVariation disease BEFREE To further investigate the role of RD3 in photoreceptors and explore gene therapy as a potential treatment for LCA12, we delivered adeno-associated viral vector (AAV8) with a Y733F capsid mutation and containing the mouse Rd3 complementary DNA (cDNA) under the control of the human rhodopsin kinase promoter to photoreceptors of 14-day-old Rb(11.13)4Bnr/J and In (5)30Rk/J strains of rd3 mice by subretinal injections. 23740938 2013
CUI: C0025202
Disease: melanoma
melanoma 		0.010 AlteredExpression disease BEFREE Visual rhodopsin, transducin, cGMP-phosphodiesterase 6, cGMP-dependent channels, guanylyl cyclase, rhodopsin kinase, recoverin and arrestin are expressed in melanoma and can induce antibody responses in patients. 17187367 2007
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.010 Biomarker disease BEFREE Immunocytochemistry was performed with antibodies against cone opsins and kinases GRK1 and GRK7 in postmortem normal and ESCS retinal tissue. 12601058 2003
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 GeneticVariation disease BEFREE The data indicate that defects in the rhodopsin kinase gene causing RP are either rare or nonexistent. 9268593 1997