FOXC2, forkhead box C2, 2303

N. diseases: 168; N. variants: 18
Disease: Lymphedema distichiasis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE Thus, SEDAC caused by the heterozygous FOXC2 loss-of-function mutation should be considered a feature of LDS, although it often manifests as the sole symptom. 24278289 2013
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE Twelve family members carried a mutation in the FOXC2 gene and had clinical features of lymphedema-distichiasis syndrome. 20535019 2010
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE We analyzed the molecular consequences of two disease-causing missense mutations (R121H and S125L) occurring in the FHD of the FOXC2 gene that were identified in patients with hereditary lymphedema with distichiasis (LD) to test the predictive capacity of a FHD structure/function model. 16081467 2005