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 Biomarker disease GENOMICS_ENGLAND
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome 		0.800 CausalMutation disease CLINVAR
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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review. 19013876 2008