FOXF1, forkhead box F1, 2294

N. diseases: 135; N. variants: 7
Disease: Congenital malrotation of intestine ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.120 GeneticVariation disease BEFREE This clinical case is the first report of a heterozygous nonsense mutation c.539C>A;p.S180X in the first exon of FOXF1, in a patient with ACD/MPV associated with annular pancreas and intestinal malrotation. 23407133 2013
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.120 GeneticVariation disease BEFREE In contrast to the association of point mutations in FOXF1 with bowel malrotation, microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, probably due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes. 19500772 2009
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.120 Biomarker disease HPO