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 Biomarker disease CTD_human 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: 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: C4255193
Disease: Bilateral Vestibulopathy
Bilateral Vestibulopathy 		0.410 Biomarker disease HPO
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.400 Biomarker phenotype CTD_human Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 30926972 2019
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.400 Biomarker phenotype HPO
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.340 Biomarker disease CTD_human Methotrexate in pediatric osteosarcoma: response and toxicity in relation to genetic polymorphisms and dihydrofolate reductase and reduced folate carrier 1 expression. 19159907 2009
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 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: 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: 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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.330 Biomarker phenotype CTD_human 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: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.300 Biomarker disease CTD_human Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 30926972 2019
CUI: C0019816
Disease: Hereditary, Type VII, Motor and Sensory Neuropathy
Hereditary, Type VII, Motor and Sensory Neuropathy 		0.300 Biomarker disease CTD_human Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 30926972 2019
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.300 Biomarker group CTD_human Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 30926972 2019
CUI: C0234357
Disease: Adiadochokinesis
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
CUI: C0750994
Disease: Cerebellar Hemiataxia
Cerebellar Hemiataxia 		0.300 Biomarker phenotype CTD_human Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 30926972 2019
CUI: C3668822
Disease: Hypermetria (finding)
Hypermetria (finding) 		0.300 Biomarker phenotype CTD_human Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 30926972 2019
CUI: C4285893
Disease: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 		0.300 GermlineCausalMutation disease ORPHANET Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 30926972 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.300 Biomarker disease CTD_human Use of a novel genetic mouse model to investigate the role of folate in colitis-associated colon cancer. 18926688 2009
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.300 Biomarker group CTD_human Use of a novel genetic mouse model to investigate the role of folate in colitis-associated colon cancer. 18926688 2009
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
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
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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