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: C4749855
Disease: 14q11.2 microduplication syndrome
14q11.2 microduplication syndrome 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		0.100 CausalMutation disease CLINVAR
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		0.100 CausalMutation phenotype CLINVAR
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		0.010 GeneticVariation disease BEFREE Abnormal involuntary movements are a major feature of FOXG1 mutations. 27029630 2016
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation phenotype CLINVAR
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		0.100 Biomarker disease HPO
CUI: C4024167
Disease: Abnormality of the antitragus
Abnormality of the antitragus 		0.100 Biomarker disease HPO
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		0.100 Biomarker disease HPO
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.100 CausalMutation phenotype CLINVAR
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.300 Biomarker phenotype CTD_human A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. 18627055 2008
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation phenotype CLINVAR
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 Biomarker phenotype HPO
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.100 CausalMutation phenotype CLINVAR
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.300 Biomarker disease CTD_human A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. 18627055 2008
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 Biomarker disease BEFREE Elevated FOXG1 and SOX2 in glioblastoma enforces neural stem cell identity through transcriptional control of cell cycle and epigenetic regulators. 28465359 2017
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 Biomarker disease BEFREE FoxG1 facilitates proliferation and inhibits differentiation by downregulating FoxO/Smad signaling in glioblastoma. 30172378 2018
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.020 Biomarker disease BEFREE Our findings are consistent with a role for FOXG1 in the inhibition of TGF-beta induced cytostasis in medulloblastoma. 17522785 2007
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.020 Biomarker disease BEFREE FoxG1 interacts with Bmi1 to regulate self-renewal and tumorigenicity of medulloblastoma stem cells. 23592496 2013
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.120 Biomarker disease BEFREE FOXG1B (forkhead box G1B) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation. 18627055 2008
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.120 Biomarker disease HPO
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: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.010 GeneticVariation disease BEFREE Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christianson syndrome), and TCF4 (Pitt-Hopkins syndrome). 24839169 2014
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 Biomarker disease BEFREE Patients suffering from FOXG1-related disorders exhibit severe anxiety, sleep disturbance and choroid plexus cysts, indicating that Foxg1 likely plays a role in epithalamic development. 29394901 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 Biomarker group BEFREE Patients suffering from FOXG1-related disorders exhibit severe anxiety, sleep disturbance and choroid plexus cysts, indicating that Foxg1 likely plays a role in epithalamic development. 29394901 2018