RFC1, replication factor C subunit 1, 5981

N. diseases: 144; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
0.010 GeneticVariation disease BEFREE We focus here on recent contributions relating vestibular and ocular motor abnormalities in inflammatory, demyelinating, metabolic, and peripheral nervous system disorders RECENT FINDINGS: Vestibular abnormalities have been identified in acute demyelinating neuropathies (AIDP), in novel genetic mutations responsible for CANVAS (cerebellar ataxia, neuropathy vestibular areflexia syndrome), and in other inherited neuropathies (variants of Charcot-Marie-Tooth disease). 31770124 2020
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.010 Biomarker group BEFREE The EMPA-REG, CANVAS, and DECLARE-TIMI 58 studies revealed that SGLT2 inhibitors reduce the risk of cardiovascular events and concomitantly suggested that these drugs slow the progression of kidney disease in type 2 diabetes. 31725011 2020
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.010 Biomarker phenotype BEFREE MiSet RFC Standards: Defining a Universal Minimum Set of Standards Required for Reproducibility and Rigor in Research Flow Cytometry Experiments. 31769204 2020
Rigor - Temperature-associated observation
0.010 Biomarker phenotype BEFREE MiSet RFC Standards: Defining a Universal Minimum Set of Standards Required for Reproducibility and Rigor in Research Flow Cytometry Experiments. 31769204 2020
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
0.010 GeneticVariation disease BEFREE We focus here on recent contributions relating vestibular and ocular motor abnormalities in inflammatory, demyelinating, metabolic, and peripheral nervous system disorders RECENT FINDINGS: Vestibular abnormalities have been identified in acute demyelinating neuropathies (AIDP), in novel genetic mutations responsible for CANVAS (cerebellar ataxia, neuropathy vestibular areflexia syndrome), and in other inherited neuropathies (variants of Charcot-Marie-Tooth disease). 31770124 2020
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 Biomarker disease BEFREE The three trials with sodium glucose co-transporter-2 inhibitors (SGLT-2i) (EMPA-REG OUTCOME with empagliflozin, CANVAS with canagliflozin and DECLARE with dapagliflozin) all revealed a robust and significant reduction in the hazard ratios of hospitalization for HF, from 27% to 35%, which remained consistent, significant and of similar magnitude regardless of the presence of a history of HF or established atherosclerotic cardiovascular disease. 30609236 2019
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 Biomarker disease BEFREE For major cardiovascular events (MACE), there is no class effect for SGLT-2 inhibitors, as the 7% reduction of MACE risk observed with dapagliflozin in the DECLARE trial was not significant; on the other hand, a class effect is evident for both heart failure and diabetic kidney disease, as in all four trials so far completed (EMPAREG-OUTCOME, CANVAS, DECLARE, CREDENCE) the risk of hospitalization for heart failure and progression of diabetic kidney disease was significantly reduced by all SGLT-2 inhibitors. 31337395 2019
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 Biomarker disease BEFREE Clinical cure rates for the modified intent-to-treat population in COVERS and CANVAS were similar for ceftaroline fosamil-treated patients with ≥1 sign of sepsis [82% (255/312) and 85% (335/394)] and for those with SIRS [84% (168/199) and 85% (131/155)]. 30716446 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation disease BEFREE Interestingly, high mRNA levels of RFC1 are a protective factor in the risk of AL relapse (OR=0.22, 95% 0.06-0.80). 31452789 2019
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 Biomarker disease BEFREE Clinical cure rates for the modified intent-to-treat population in COVERS and CANVAS were similar for ceftaroline fosamil-treated patients with ≥1 sign of sepsis [82% (255/312) and 85% (335/394)] and for those with SIRS [84% (168/199) and 85% (131/155)]. 30716446 2019
Arteriosclerotic cardiovascular disease, NOS
0.010 GeneticVariation disease BEFREE Three CVOTs of various SGLT-2i (EMPA-REG OUTCOME, CANVAS and DECLARE-TIMI 58) enrolled markedly different patient populations in terms of ASCVD risk, but have demonstrated robust and consistent benefits in reduction of hospitalization for HF. 31081589 2019
Non-ST Elevated Myocardial Infarction
0.010 Biomarker disease BEFREE Patients with NSTEMI presenting with RFC as culprit lesion at OCT evaluation have a specific perturbation of adaptive immunity, mostly involving CD4<sup>+</sup>CD28<sup>null</sup> T- cells and Tregs, as compared with patients with IFC and SA. 30217424 2019
CUI: C4552483
Disease: ABSSSI
ABSSSI
0.010 Biomarker disease BEFREE Clinical outcomes at test-of-cure in patients with ABSSSI and systemic inflammatory signs/systemic inflammatory response syndrome (SIRS) as well as ceftaroline minimum inhibitory concentrations (MICs) against baseline pathogens were compared between the COVERS trial (ceftaroline fosamil 600 mg q8h, 2-h infusion) and the CANVAS 1 and 2 trials (ceftaroline fosamil 600 mg q12h, 1-h infusion). 30716446 2019
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.010 AlteredExpression disease BEFREE Hyperglycaemia significantly decreased protein levels of RFC-1, THTR1, THTR2 and TKT (P<0.05) <i>in vitro</i>. 28950391 2018
CUI: C0026946
Disease: Mycoses
Mycoses
0.010 AlteredExpression group BEFREE Results of blood agar plate and thin-layer chromatography analysis showed RFC-1 released high lipid and emulsification activity in the fungal culture. 30142606 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 GeneticVariation disease BEFREE Liraglutide (in LEADER), semaglutide (in SUSTAIN-6), empagliflozin (in EMPA-REG OUTCOME), and canagliflozin (in CANVAS) were all associated with reduction of the primary composite outcome (i.e. cardiovascular death, nonfatal myocardial infarction or stroke). 29702499 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 GeneticVariation group BEFREE Liraglutide (in LEADER), semaglutide (in SUSTAIN-6), empagliflozin (in EMPA-REG OUTCOME), and canagliflozin (in CANVAS) were all associated with reduction of the primary composite outcome (i.e. cardiovascular death, nonfatal myocardial infarction or stroke). 29702499 2018
CUI: C0751908
Disease: Vestibular Neuronitis
Vestibular Neuronitis
0.010 GeneticVariation disease BEFREE The etiology includes: idiopathic: <i>n</i> = 9, Wernicke's encephalopathy <i>n</i> = 11, superficial siderosis <i>n</i> = 3, paraneoplastic syndrome: <i>n</i> = 3, bilateral vestibular neuritis (recurrent AVS lasting days without cochlear symptoms) <i>n</i> = 3, simultaneous ototoxicity of aminoglycoside and chemotherapy toxicity <i>n</i> = 2, MELAS <i>n</i> = 2, Meniere's disease treated with intra-tympanic streptomycin in one ear <i>n</i> = 1, acute phenytoin intoxication: <i>n</i> = 1, combined chronic unilateral tumor-related vestibulopathy and new contralateral vestibular neuritis (this patient presented with Betcherew's phenomenon) <i>n</i> = 1, bilateral AICA stroke <i>n</i> = 1, mixed spinocerebellar ataxia type 3, <i>n</i> = 2 and CANVAS <i>n</i> = 2. 29545765 2018
CUI: C0025500
Disease: Mesothelioma
Mesothelioma
0.010 Biomarker disease BEFREE Here, we explored the role of the reduced-folate carrier (RFC/SLC19A1) and proton-coupled folate transporter (PCFT/SLC46A1) in antifolate resistance in mesothelioma. 28945836 2017
CUI: C1266166
Disease: Intracortical osteosarcoma
Intracortical osteosarcoma
0.010 AlteredExpression disease BEFREE The DEGs encoding RFC may be important for the development of conventional OS, and their expression may be regulated by a number of miRNAs, including miR‑802, miR‑224‑3p and miR‑522‑3p. 28944822 2017
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 Biomarker disease BEFREE Ultimately, the interaction between RFC and PCNA or between CDK2 and CyclinE, the telomerase activity and the microsatellite instability (MSI) are significantly increased in the liver cancer stem cells. 27782152 2016
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.010 Biomarker phenotype BEFREE The risk alleles for MRD-positivity were: A allele of VDR (OR = 2.37, 95%CI = 1.07-5.21, P = 0.03, MRD-day15); A of RFC (OR = 1.93, 95%CI = 1.05-3.52, P = 0.03, MRD-day33 and MRD-week12, P < 0.01); A of IL15 (OR = 2.30, 95%CI = 1.02-5.18, P = 0.04, MRD-day33). 27427275 2016
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 Biomarker disease BEFREE Ultimately, the interaction between RFC and PCNA or between CDK2 and CyclinE, the telomerase activity and the microsatellite instability (MSI) are significantly increased in the liver cancer stem cells. 27782152 2016
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 GeneticVariation group BEFREE A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum Disorder. 27213354 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 GeneticVariation disease BEFREE A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum Disorder. 27213354 2016