RFC1, replication factor C subunit 1, 5981

N. diseases: 144; N. variants: 6
Disease: Cleft lip or lips ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 GeneticVariation phenotype BEFREE RFC1 variation was over-transmitted to children born with cleft lip only (P = 0.017) carrying mitochondrial DNA haplotypes other than haplotype D. Our results provide a new indication that variation in RFC1 may contribute to cleft lip only. 18797703 2008