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 Mutations in the FOXC2 gene are associated with lymphedema-distichiasis syndrome. 29406328 2018
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 Biomarker disease BEFREE FOXC2, a forkhead transcriptional factor, is a candidate gene for congenital heart diseases and lymphedema-distichiasis syndrome and yellow nail syndrome; however, there are no reports on Foxc2 and the development of the lung. 28675425 2017
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE Integration-free T cell-derived human induced pluripotent stem cells (iPSCs) from a patient with lymphedema-distichiasis syndrome (LDS) carrying an insertion-deletion complex mutation in the FOXC2 gene. 27346194 2016
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 A novel missense mutation and two microrearrangements in the FOXC2 gene of three families with lymphedema-distichiasis syndrome. 20552815 2010
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. 20450314 2010
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 FOXC2 mutations causing lymphedema-distichiasis syndrome reported thus far result in haplo-insufficiency and lead to lymphatic hyperplasia. 19760751 2009
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2. 20218083 2009
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review. 19013876 2008
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE Mutations in vascular endothelial growth factor receptor-3 (VEGFR3) in families with Milroy disease, mutations of FOXC2 in the lymphedema-distichiasis syndrome, and fatal chylothorax in alpha9-deficient mice are potential candidate genes. 16419129 2006
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
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. 15523639 2004
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. 15523639 2004
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome. 12719382 2003
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GermlineCausalMutation disease ORPHANET Lymphedema-distichiasis syndrome and FOXC2 gene mutation. 12383817 2002
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE Lymphedema-distichiasis syndrome and FOXC2 gene mutation. 12383817 2002
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE Identification of FOXC2 as the gene mutated in the lymphedema-distichiasis syndrome has revealed new molecular insight into lymphatic development. 12543715 2002
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease UNIPROT FOXC2 appears to be the primary cause of lymphedema-distichiasis syndrome and is also a cause of lymphedema in families displaying phenotypes attributed to other lymphedema syndromes. 11371511 2001
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 Biomarker disease BEFREE FOXC2 appears to be the primary cause of lymphedema-distichiasis syndrome and is also a cause of lymphedema in families displaying phenotypes attributed to other lymphedema syndromes. 11371511 2001
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease UNIPROT Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. 11499682 2001
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 Biomarker disease CTD_human Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. 11078474 2000
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease UNIPROT Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. 11078474 2000
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 GeneticVariation disease BEFREE Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. 11078474 2000
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. 11078474 2000