SLC19A1, solute carrier family 19 member 1, 6573

N. diseases: 155; N. variants: 47
Disease: Cleft upper lip ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.310 Biomarker disease CTD_human Folate pathway and nonsyndromic cleft lip and palate. 21254359 2011
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.310 GeneticVariation disease 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