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: 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: 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
CUI: C1704423
Disease: Milroy Disease
Milroy Disease 		0.080 Biomarker disease BEFREE FOXC2 represents the second known gene to result in hereditary lymphedema, and LD is only the second hereditary disorder known to be caused by a mutation in a forkhead-family gene. 11078474 2000
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: C0028754
Disease: Obesity
Obesity 		0.040 Biomarker disease BEFREE FOXC2 is a winged helix gene that counteracts obesity, hypertriglyceridemia, and diet-induced insulin resistance. 11551504 2001
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.200 GeneticVariation disease BEFREE FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. 12485195 2002
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.410 GeneticVariation disease BEFREE FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. 12485195 2002
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.010 GeneticVariation disease BEFREE FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. 12485195 2002