Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4041558
Disease: Cone-rod synaptic disorder, congenital nonprogressive
Cone-rod synaptic disorder, congenital nonprogressive 		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: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.100 Biomarker disease HPO
CUI: C0456909
Disease: Blindness
Blindness 		0.100 Biomarker phenotype HPO
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.100 Biomarker phenotype HPO
CUI: C1298695
Disease: Hypoplasia of optic disc
Hypoplasia of optic disc 		0.100 Biomarker disease HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		0.100 Biomarker disease HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.020 Biomarker disease BEFREE <b>Abbreviations</b>: CYCS: cytochrome c; bRHO<sup>P23H</sup>: bovine RHO<sup>P23H</sup>; Cas9: CRISPR associated protein 9; dpf: days post-fertilization; eGFP: enhanced green fluorescent protein; GNAT1: guanine nucleotide-binding protein G(t) subunit alpha-1 aka rod alpha-transducin; HSPA1A/hsp70: heat shock protein of 70 kilodaltons; LAMP1: lysosomal-associated membrane protein 1; LC3: microtubule-associated protein 1A/1B light chain 3; mRFP: monomeric red fluorescent protein; RHO: rhodopsin; RP: retinitis pigmentosa; RPE65: retinal pigment epithelium-specific 65 kDa protein: sfGFP: superfolding GFP; sgRNA: single guide RNA; WGA: wheat germ agglutinin; <i>RHO<sub>p</sub></i>: the <i>Xenopus laevis RHO.2.L</i> promoter. 30975014 2019
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: 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: 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: 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: 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: 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: 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: 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: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 AlteredExpression disease BEFREE Lnc‑GNAT1‑1 overexpression inhibited gastric cancer cell migration and invasion. 30132541 2018