FOXF1, forkhead box F1, 2294

N. diseases: 135; N. variants: 7
Disease: Pyloric Stenosis, Infantile Hypertrophic 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1867403
Disease: Pyloric Stenosis, Infantile Hypertrophic 1
Pyloric Stenosis, Infantile Hypertrophic 1 		0.010 GeneticVariation disease BEFREE These results provide strong evidence that the R139Q substitution in FOXF1 causes IHPS in this family and imply a novel pathological pathway for the condition. 27855150 2017