Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 CausalMutation disease CLINVAR Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants. 28513611 2017
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 CausalMutation disease CLINVAR A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations. 28979898 2017
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease UNIPROT Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome. 27804176 2017
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 CausalMutation disease CLINVAR A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases. 24914578 2016
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease CLINVAR A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases. 24914578 2016
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease UNIPROT A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases. 24914578 2016
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 CausalMutation disease CLINVAR Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability. 25786029 2015
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease UNIPROT Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability. 25786029 2015
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 Biomarker disease GENOMICS_ENGLAND 6p25 microdeletion: white matter abnormalities in an adult patient. 23686687 2013
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease UNIPROT Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. 23239455 2013
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease CLINVAR Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. 20881294 2011
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 CausalMutation disease CLINVAR Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. 20881294 2011
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease UNIPROT Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. 19279310 2009
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 Biomarker disease GENOMICS_ENGLAND Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. 19793056 2009
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 CausalMutation disease CLINVAR A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. 18498376 2008
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease UNIPROT Analyses of a novel L130F missense mutation in FOXC1. 17210863 2007
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease UNIPROT Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. 17653043 2007
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 Biomarker disease GENOMICS_ENGLAND Analyses of a novel L130F missense mutation in FOXC1. 17210863 2007
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease CLINVAR Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. 16936096 2006
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 CausalMutation disease CLINVAR Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. 16936096 2006
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease UNIPROT Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. 16936096 2006
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease UNIPROT Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. 16449236 2006
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease UNIPROT The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions. 15277473 2004
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease UNIPROT Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family. 15477465 2004
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.700 GeneticVariation disease UNIPROT Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1. 14506133 2003