RFC1, replication factor C subunit 1, 5981

N. diseases: 144; N. variants: 6
Disease: Hereditary Motor and Sensory Neuropathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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