RFC1, replication factor C subunit 1, 5981

N. diseases: 144; N. variants: 6
Disease: Cerebellar Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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