FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR RettBASE: Rett syndrome database update. 28544139 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Visual impairment in FOXG1-mutated individuals and mice. 27001178 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. 27640358 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. 26364767 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy. 25565401 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Somatic mosaicism for a FOXG1 mutation: diagnostic implication. 24766421 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. 22998673 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. 21441262 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 19578037 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation. 20356955 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR FOXG1 is responsible for the congenital variant of Rett syndrome. 18571142 2008
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Prospective observations on stopping prolonged venom immunotherapy. 2760358 1989