FOXC2, forkhead box C2, 2303

N. diseases: 168; N. variants: 18
Disease: Lymphedema praecox ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238261
Disease: Lymphedema praecox
Lymphedema praecox 		0.050 GeneticVariation disease BEFREE We previously described six unrelated families with primary lymphedema-distichiasis in which patients showed different FOXC2 mutations located outside of the forkhead domain. 27276711 2016
CUI: C0238261
Disease: Lymphedema praecox
Lymphedema praecox 		0.050 GeneticVariation disease BEFREE We used PCR and direct sequencing to analyze the region of the fms-related tyrosine kinase 4 (FLT4) gene encoding the "tyrosine-kinase domain" and the single exon of the forkhead box C2 (FOXC2) gene in 46 Italian probands with primary lymphedema, 42 of whom had familial forms. 22768468 2012
CUI: C0238261
Disease: Lymphedema praecox
Lymphedema praecox 		0.050 GeneticVariation disease BEFREE We analyzed the FOXC2 gene in 288 patients with primary lymphedema and found 11 pathogenic mutations, of which 9 are novel. 19760751 2009
CUI: C0238261
Disease: Lymphedema praecox
Lymphedema praecox 		0.050 GeneticVariation disease BEFREE Three genes, FLT4 (VEGFR3), FOXC2, and SOX18 cause varying forms of primary lymphedema. 18564920 2008
CUI: C0238261
Disease: Lymphedema praecox
Lymphedema praecox 		0.050 GeneticVariation disease BEFREE This study has examined FOXC2 gene by sequence analysis in 23 affected individuals with Meige disease. 18197197 2008