FOXC2, forkhead box C2, 2303

N. diseases: 168; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 Biomarker phenotype HPO
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		0.100 Biomarker disease HPO
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		0.100 Biomarker disease HPO
CUI: C0266298
Disease: Accessory kidney
Accessory kidney 		0.100 Biomarker disease HPO
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.100 Biomarker group HPO
CUI: C0392163
Disease: Corneal erosion
Corneal erosion 		0.100 Biomarker disease HPO
CUI: C1835228
Disease: Predominantly lower limb lymphedema
Predominantly lower limb lymphedema 		0.100 Biomarker phenotype HPO
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		0.100 Biomarker phenotype HPO
CUI: C4021393
Disease: Spinalarachnoid cyst
Spinalarachnoid cyst 		0.100 Biomarker phenotype HPO
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		0.100 Biomarker phenotype HPO
CUI: C4025271
Disease: Abnormality of the pulmonary vasculature
Abnormality of the pulmonary vasculature 		0.100 Biomarker phenotype HPO
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		0.100 Biomarker phenotype HPO
CUI: C0151491
Disease: Congenital musculoskeletal anomalies
Congenital musculoskeletal anomalies 		0.300 Biomarker group CTD_human The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo. 9106663 1997
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.300 Biomarker group CTD_human Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. 9409679 1997
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. 9409679 1997
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo. 9106663 1997
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0.010 Biomarker disease BEFREE MFH-1-deficient mice died embryonically and perinatally, and exhibited interrupted aortic arch and skeletal defects in the neurocranium and the vertebral column. 9409679 1997
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: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.320 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: C0423848
Disease: Distichiasis
Distichiasis 		0.200 Biomarker disease BEFREE FOXC2 knockout mice display cardiovascular, craniofacial, and vertebral abnormalities similar to those seen in LD syndrome. 11078474 2000