FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 AlteredExpression disease BEFREE We show that FoxG1 expression is low in breast cancer cell lines and that low levels of FoxG1 are correlated with a worse prognosis in breast cancer. 23660594 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 AlteredExpression disease BEFREE We show that FoxG1 expression is low in breast cancer cell lines and that low levels of FoxG1 are correlated with a worse prognosis in breast cancer. 23660594 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.150 GeneticVariation group BEFREE We screened the entire coding region of the gene for mutations in 50 boys with congenital encephalopathy, postnatal microcephaly, and complex movement disorders, a clinical picture very similar to that described in girls with FOXG1 mutations. 20734096 2011
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease BEFREE We screened the FOXG1 gene in a cohort of 206 MECP2 and CDKL5 mutation negative patients (136 females and 70 males) with severe encephalopathy and microcephaly. 19806373 2010
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.070 GeneticVariation group BEFREE We screened the FOXG1 gene in a cohort of 206 MECP2 and CDKL5 mutation negative patients (136 females and 70 males) with severe encephalopathy and microcephaly. 19806373 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation group BEFREE We recommend that patients with congenital RTT and Rett-like MR, especially those with brain malformations, such as hypoplasia of the corpus callosum, should be tested for FOXG1 mutations. 28851325 2017
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 GeneticVariation disease BEFREE We recommend that patients with congenital RTT and Rett-like MR, especially those with brain malformations, such as hypoplasia of the corpus callosum, should be tested for FOXG1 mutations. 28851325 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.300 GeneticVariation disease BEFREE We recommend that patients with congenital RTT and Rett-like MR, especially those with brain malformations, such as hypoplasia of the corpus callosum, should be tested for FOXG1 mutations. 28851325 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE We now report a 3-year-old FOXG1-duplicated patient with a yet undescribed tumor syndrome with clinical features of neurofibromatosis types I and II, where several validation studies could not ascertain the significance of CES findings; further studies may elucidate precise mechanisms and diagnosis for clinical management, including tumor surveillance. 26542077 2016
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.010 Biomarker disease BEFREE We now report a 3-year-old FOXG1-duplicated patient with a yet undescribed tumor syndrome with clinical features of neurofibromatosis types I and II, where several validation studies could not ascertain the significance of CES findings; further studies may elucidate precise mechanisms and diagnosis for clinical management, including tumor surveillance. 26542077 2016
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		0.010 Biomarker group BEFREE We now report a 3-year-old FOXG1-duplicated patient with a yet undescribed tumor syndrome with clinical features of neurofibromatosis types I and II, where several validation studies could not ascertain the significance of CES findings; further studies may elucidate precise mechanisms and diagnosis for clinical management, including tumor surveillance. 26542077 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.150 GeneticVariation group BEFREE We identified patients with FOXG1 mutations who were referred to either a tertiary movement disorder clinic or tertiary epilepsy service and retrospectively reviewed medical records, clinical investigations, neuroimaging, and available video footage. 27029630 2016
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.300 GeneticVariation disease BEFREE We have identified a novel mutation (p. D263VfsX190) in FOXG1 gene in a patient with congenital variant of Rett syndrome. 24412290 2014
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 GeneticVariation disease BEFREE We expand the mutational spectrum in patients with FOXG1-related encephalopathies and precise the core FOXG1 syndrome phenotype. 22739344 2012
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.070 Biomarker group BEFREE We expand the mutational spectrum in patients with FOXG1-related encephalopathies and precise the core FOXG1 syndrome phenotype. 22739344 2012
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 Biomarker disease BEFREE We believe the FOXG1 position effect largely accounts for the clinical phenotype in DGAP294, which can be classified as FOXG1 syndrome like. 29321672 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.300 Biomarker disease BEFREE We believe that the FOXG1 gene should be considered in severely mentally retarded patients (no speech-language) with severe acquired microcephaly (-4 to-6 SD) and few clinical features suggestive of Rett syndrome. 22739344 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 Biomarker disease BEFREE We believe that the FOXG1 gene should be considered in severely mentally retarded patients (no speech-language) with severe acquired microcephaly (-4 to-6 SD) and few clinical features suggestive of Rett syndrome. 22739344 2012
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.300 Biomarker disease BEFREE We also predicted the structural order-disorder propensity and assessed the evolutionary rates per site of MeCP2, CDKL5, and FOXG1 to investigate the relationships between disordered structure and other related properties with RTT. 31717404 2019
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.120 GeneticVariation disease BEFREE We also found that inactivation of one Foxg1 allele specifically in cortical neurons was sufficient to cause cerebral cortical hypoplasia and corpus callosum agenesis. 30392794 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.050 AlteredExpression disease BEFREE We also demonstrate that the two H3F3A mutations give rise to GBMs in separate anatomic compartments, with differential regulation of transcription factors OLIG1, OLIG2, and FOXG1, possibly reflecting different cellular origins. 23079654 2012
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.040 AlteredExpression disease BEFREE We also demonstrate that the two H3F3A mutations give rise to GBMs in separate anatomic compartments, with differential regulation of transcription factors OLIG1, OLIG2, and FOXG1, possibly reflecting different cellular origins. 23079654 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease 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 Visual impairment in FOXG1-mutated individuals and mice. 27001178 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Visual impairment in FOXG1-mutated individuals and mice. 27001178 2016