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: C4255193
Disease: Bilateral Vestibulopathy
Bilateral Vestibulopathy
0.410 GeneticVariation disease BEFREE We used non-parametric linkage analysis and genome sequencing to identify a biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene as the cause of familial CANVAS and a frequent cause of late-onset ataxia, particularly if sensory neuronopathy and bilateral vestibular areflexia coexist. 30926972 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.340 GeneticVariation disease BEFREE Acquired alterations of the RFC gene have been associated with resistance to MTX in cancer cell lines and primary osteosarcomas. 18028428 2008
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.340 Biomarker disease BEFREE Further analyses of DHFR, MLL, MYC, and RFC gene status in four additional human OS cell lines revealed that only gain of DHFR and MLL were associated with an inherent lower sensitivity to MTX. 14582536 2003
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.340 GeneticVariation disease BEFREE The purpose of this study was to investigate sequence alterations in the RFC gene in osteosarcoma tumor samples. 12576457 2003
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.340 Biomarker disease BEFREE To evaluate the impact of dihydrofolate reductase (DHFR) and reduced folate carrier (RFC) genes on methotrexate (MTX) resistance in osteosarcoma cells in relation to retinoblastoma (RB1) gene status. 14679136 2004
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.330 Biomarker phenotype BEFREE These data, along with an expansion carrier frequency of 0.7% in Europeans, implies that biallelic AAGGG expansion in RFC1 is a frequent cause of late-onset ataxia. 30926972 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.330 GeneticVariation phenotype BEFREE Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 31028356 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.330 GeneticVariation phenotype BEFREE The recent discovery of a repeat expansion in the RFC1 gene in cerebellar ataxia, neuropathy, vestibular areflexia syndrome highlights the prevalence of late-onset recessive conditions which have historically been considered to cause early-onset disease. 31343428 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE The CANVAS Program (Canagliflozin Cardiovascular Assessment Study) randomly assigned 10 142 participants with type 2 diabetes mellitus to canagliflozin or placebo. 29133604 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE The aim of the present study was to investigate the generalizability of CVOTs on SGLT2i to Italian adults with T2DM; we estimated the proportions of this patient population who would be eligible for enrollment in EMPA-REG OUTCOME (empagliflozin), CANVAS (canagliflozin), DECLARE-TIMI 58 (dapagliflozin), and VERTIS-CV (ertugliflozin) studies. 31410779 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease 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
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease BEFREE The CANVAS Program randomized 10 142 participants with type 2 diabetes and eGFR >30 mL/min/1.73 m<sup>2</sup> to canagliflozin or placebo. 29941478 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE Sodium-glucose co-transporter (SGLT)-2 inhibitors have been shown to reduce the risk of cardiovascular death and heart failure (HF) hospitalization in patients with type 2 diabetes mellitus (DM) and high cardiovascular risk in two large clinical outcome trials: empagliflozin in EMPA-REG OUTCOME and canagliflozin in CANVAS. 31747132 2020
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE In addition, the SGLT2 inhibitors empagliflozin and canagliflozin reduced the risk of composite cardiovascular events in high-risk individuals with T2DM in the EMPA-REG OUTCOME trial and the CANVAS Program, respectively. 29196150 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease BEFREE To assess the eligibility of patients participating in DISCOVER (a 3-year, prospective, observational study program of 15 992 patients with type 2 diabetes [T2D] initiating a second-line glucose-lowering therapy across 38 countries) for four cardiovascular outcomes trials (CVOTs) of sodium-glucose cotransporter 2 inhibitors (CANagliflozin cardioVascular Assessment Study [CANVAS], Dapagliflozin effect on CardiovascuLAR Events trial [DECLARE-TIMI 58], EMPAgliflozin cardiovascular OUTCOME event trial [EMPA-REG OUTCOME], and eValuation of ERTugliflozin effIcacy and Safety CardioVascular outcomes trial [VERTIS-CV]). 31114700 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE The CANVAS Program (Canagliflozin Cardiovascular Assessment Study) enrolled 10 142 participants with type 2 diabetes mellitus and high cardiovascular risk. 29526832 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease BEFREE Canagliflozin reduced the risk of heart failure among patients with type 2 diabetes in the CANVAS Program. 31676303 2020
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE Weighted analysis of these data was used to estimate the percentage of US adults with T2D who met the eligibility criteria for the CANVAS program (CANagliflozin cardioVascular Assessment Study) (canagliflozin; NCT01032629, NCT01989754), and the DECLARE-TIMI 58 (dapagliflozin; NCT01730534), EMPA-REG OUTCOME (empagliflozin; NCT01131676), and VERTIS-CV (ertugliflozin; NCT01986881) trials. 29693360 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE Economic modelling of costs associated with outcomes reported for type 2 diabetes mellitus (T2DM) patients in the CANVAS and EMPA-REG cardiovascular outcomes trials. 30575426 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease BEFREE The report combines the data from two trials, CANVAS and CANVAS-Renal, which were designed to evaluate the safety and effect of canagliflozin, an SGLT-2 inhibitor, on the appearance of cardiovascular and renal events in patients with type 2 diabetes. 29297732 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease BEFREE Sodium-glucose cotransporter type 2 inhibitors (SGLT2is) and glucagon-like peptide-1 receptor agonists (GLP-1RAs) are two pharmacological classes that have proven their efficacy to reduce major cardiovascular events (MACEs) in patients with type 2 diabetes mellitus (T2DM) and established cardiovascular disease in large prospective cardiovascular outcome trials (CVOTs): EMPA-REG OUTCOME (empagliflozin), CANVAS (canagliflozin), LEADER (liraglutide) and SUSTAIN 6 (semaglutide). 29944969 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease BEFREE The CANVAS Program randomized 10,142 participants with type 2 diabetes to canagliflozin or placebo. 31729107 2020
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease BEFREE Methods The CANVAS Program integrated data from two trials involving a total of 10,142 participants with type 2 diabetes and high cardiovascular risk. 28605608 2017
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 GeneticVariation disease BEFREE However, the binary logistic regression showed a higher frequency of the polymorphic homozygote genotype in DS parent group to codominant and dominant model in the RFC1 A80G. 29130768 2017
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 GeneticVariation disease BEFREE Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome. 19729796 2009