Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.010 Biomarker disease BEFREE We investigated the role of rod cell phototransduction on the pathogenesis of early diabetic retinopathy (DR) using Gnat1-/- mice (which causes permanent inhibition of phototransduction in rod cells without degeneration). 30994864 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE We have demonstrated in this study that a novel lncRNA, lnc-GNAT1-1, is low expressed in colorectal cancer tissues and plasma, and acts as a tumor suppressor through regulating RKIP-NF-κB-Snail circuit. 27912775 2016
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		0.010 Biomarker disease BEFREE These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously, with notable similarities to the phenotype of the Gnat1 knockout mouse. 26472407 2016
CUI: C3551052
Disease: Night blindness, stationary
Night blindness, stationary 		0.020 Biomarker disease BEFREE These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously, with notable similarities to the phenotype of the Gnat1 knockout mouse. 26472407 2016
CUI: C3551052
Disease: Night blindness, stationary
Night blindness, stationary 		0.020 GeneticVariation disease BEFREE These data suggest that a homozygous missense mutation in GNAT1 is associated with autosomal recessive stationary night blindness. 22190596 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.020 GeneticVariation disease BEFREE Sequencing revealed a novel homozygous truncating mutation in the GNAT1 gene in a patient with significant pigmentary disturbance and constriction of visual fields, a presentation consistent with retinitis pigmentosa. 26472407 2016
CUI: C3669212
Disease: Progressive retinal atrophy
Progressive retinal atrophy 		0.010 GeneticVariation disease BEFREE PCR products were digested with Nci I, to enable typing of individuals in the PRA affected pedigrees for a previously identified GNAT1 restriction fragment length polymorphism (RFLP). 9043826 1997
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: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.010 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 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 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 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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE Lnc‑GNAT1‑1 overexpression inhibited gastric cancer cell migration and invasion. 30132541 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 AlteredExpression disease BEFREE Lnc‑GNAT1‑1 overexpression inhibited gastric cancer cell migration and invasion. 30132541 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 AlteredExpression disease BEFREE Lnc‑GNAT1‑1 overexpression inhibited gastric cancer cell migration and invasion. 30132541 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE In vitro experiments showed that knockdown of lnc-GNAT1-1 could inhibit the aggressive phenotypes of CRC cell lines. 27912775 2016
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: C0011847
Disease: Diabetes
Diabetes 		0.010 Biomarker disease BEFREE In Gnat1-deficient animals, the diabetes-induced increase in expression of inflammatory associated proteins (iNOS and ICAM-1, and phosphorylation of IĸB) in the retina, and the leukocyte mediated killing of retinal endothelial cells were inhibited, however the diabetes-mediated induction of oxidative stress was not inhibited. 30994864 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 Biomarker group BEFREE In Gnat1-deficient animals, the diabetes-induced increase in expression of inflammatory associated proteins (iNOS and ICAM-1, and phosphorylation of IĸB) in the retina, and the leukocyte mediated killing of retinal endothelial cells were inhibited, however the diabetes-mediated induction of oxidative stress was not inhibited. 30994864 2019
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: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 AlteredExpression disease BEFREE Expression of lnc-GNAT1-1 was decreased in liver metastasis than the primary tumor, while the later one is lower than the paired normal mucosa. 27912775 2016
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: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Cells transfected with lnc‑GNAT1‑1 were used to initiate gastric cancer tumor xenografts to compare tumor growth in mice inoculated with untransfected cells. 30132541 2018
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