RFC1, replication factor C subunit 1, 5981

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