FOXF1, forkhead box F1, 2294

N. diseases: 135; N. variants: 7
Disease: Hypertensive disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.120 GeneticVariation group BEFREE In one case, the deletion of the maternal allele of the FOXF1 enhancer caused pulmonary hypertension and histopathologically diagnosed MPV without the typical ACD features. 31686214 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.120 GeneticVariation group BEFREE Heterozygous mutations in the FOXF1 transcription factor gene are implicated in alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a developmental disorder of the lungs classically presenting with pulmonary hypertension and early demise. 27145217 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.120 Biomarker group HPO