FOXF1, forkhead box F1, 2294

N. diseases: 135; N. variants: 7
Disease: Anus, Imperforate ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.110 GeneticVariation disease BEFREE We present a male infant with ACDMPV, hypoplastic left heart sequence (HLHS), duodenal atresia, and imperforate anus due to a de novo, in frame deletion in FOXF1: c.209_214del (p.Thr70_Leu71del). 31074124 2019
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.110 Biomarker disease HPO