FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Disease: Rett Syndrome, Atypical ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 GeneticVariation disease BEFREE However, mutations in FOXG1 cause a less frequent form of atypical Rett syndrome, called FOXG1 syndrome. 30539330 2019
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 GeneticVariation disease BEFREE Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation. 28781028 2018
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 Biomarker disease BEFREE The progressive parting of CDKL5- and FOXG1-gene-related encephalopathies from the core Rett syndrome is reflected by the effort to produce clearer diagnostic criteria for typical and atypical Rett syndrome. 22998673 2012
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 GermlineCausalMutation disease ORPHANET Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 19578037 2010
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 GeneticVariation disease BEFREE Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. 19623215 2009
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 GermlineCausalMutation disease ORPHANET Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. 19623215 2009
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 GermlineCausalMutation disease ORPHANET FOXG1 is responsible for the congenital variant of Rett syndrome. 18571142 2008