|
Absent reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
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 |
|
Action Tremor
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
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 |
|
Acute lymphocytic leukemia
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.
|
22838948 |
2012 |
|
Acute lymphocytic leukemia
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased ALL susceptibility.
|
19020309 |
2009 |
|
Acute lymphocytic leukemia
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Association Between the 5,10-MTHFR 677C>T and RFC1 80G>A Polymorphisms and Acute Lymphoblastic Leukemia.
|
31499477 |
2019 |
|
Acute lymphocytic leukemia
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
This study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of relapse of acute lymphoblastic leukemia.
|
22914600 |
2012 |
|
Acute lymphocytic leukemia
|
0.090 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that RFC gene expression is far more predictive of methotrexate uptake capacity in B-precursor than T-ALL and that increased copies of chromosome 21 in B-precursor ALL blasts are generally associated with increased RFC transcripts.
|
9748136 |
1998 |
|
Acute lymphocytic leukemia
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
The influence of genetic RFC1, MS and MTHFR polymorphisms on the risk of acute lymphoblastic leukemia relapse in children and the adverse effects of methotrexate.
|
23986219 |
2013 |
|
Acute lymphocytic leukemia
|
0.090 |
Biomarker
|
disease |
BEFREE |
Polymorphisms in other folate related genes (MTRR, MTR [MS], TYMS [TS], SLC19A1 [RFC1], NNMT, and SHMT1) are less clearly associated with susceptibility to ALL, and the number of included studies on this subject in this review is limited.
|
19775302 |
2010 |
|
Acute lymphocytic leukemia
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
The increase in risk of adult ALL with the RFC1 80AA associated with the MTRR 66GG variant was even more significant (OR = 8.92; 95% CI 1.97-40.42).
|
21657963 |
2011 |
|
Acute lymphocytic leukemia
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Sixteen single nucleotide polymorphisms (SNPs) (CYP3A4*1B A>G, CYP3A5*3 G>A, GSTP1 313 A>G, GSTM1 deletion, GSTT1 deletion, MDR1 exon 21 G>T/A, MDR1 exon 26 C>T, MTHFR 677 C>T, MTHFR 1298 A>C, NR3C1 1088 A>G, RFC 80 G>A, TPMT 238 G>C, TPMT 460 G>A, TPMT 719 A>G, VDR intron 8 G>A, VDR FokI T>C) that have been implicated in the pharmacogenetics of ALL therapy were analyzed by TotalPlex amplification and SNP genotyping.
|
18385010 |
2008 |
|
Adiadochokinesis
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
|
30926972 |
2019 |
|
Adult Acute Lymphocytic Leukemia
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that RFC gene expression is far more predictive of methotrexate uptake capacity in B-precursor than T-ALL and that increased copies of chromosome 21 in B-precursor ALL blasts are generally associated with increased RFC transcripts.
|
9748136 |
1998 |
|
Adult Acute Lymphocytic Leukemia
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Sixteen single nucleotide polymorphisms (SNPs) (CYP3A4*1B A>G, CYP3A5*3 G>A, GSTP1 313 A>G, GSTM1 deletion, GSTT1 deletion, MDR1 exon 21 G>T/A, MDR1 exon 26 C>T, MTHFR 677 C>T, MTHFR 1298 A>C, NR3C1 1088 A>G, RFC 80 G>A, TPMT 238 G>C, TPMT 460 G>A, TPMT 719 A>G, VDR intron 8 G>A, VDR FokI T>C) that have been implicated in the pharmacogenetics of ALL therapy were analyzed by TotalPlex amplification and SNP genotyping.
|
18385010 |
2008 |
|
Adult Acute Lymphocytic Leukemia
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.
|
22838948 |
2012 |
|
Adult Acute Lymphocytic Leukemia
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased ALL susceptibility.
|
19020309 |
2009 |
|
Adult Acute Lymphocytic Leukemia
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
The increase in risk of adult ALL with the RFC1 80AA associated with the MTRR 66GG variant was even more significant (OR = 8.92; 95% CI 1.97-40.42).
|
21657963 |
2011 |
|
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 |
|
Adult Lymphoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Influence of MTHFR and RFC1 polymorphisms on toxicities during maintenance chemotherapy for childhood acute lymphoblastic leukemia or lymphoma.
|
18458567 |
2008 |
|
Alcoholic Intoxication, Chronic
|
0.300 |
Biomarker
|
disease |
PSYGENET |
Antibodies against RFC protein revealed a parallel change in RFC expression in both brush border and BLM surfaces during chronic alcoholism.
|
18008023 |
2007 |
|
Alopecia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
MTX-related hepatotoxicity and alopecia were more common in patients with the RFC-1 80AA genotype (OR, 3.5, P = 0.01; OR, 2.4, P = 0.04; respectively).
|
25599563 |
2015 |
|
Alzheimer's Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Association of RFC1 A80G and MTHFR C677T polymorphisms with Alzheimer's disease.
|
18258338 |
2009 |
|
Alzheimer's Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Serum folic acid and RFC A80G polymorphism in Alzheimer's disease and vascular dementia.
|
24554143 |
2014 |