Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139

2017

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Visual impairment in FOXG1-mutated individuals and mice. 27001178

2016

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. 27640358

2016

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630

2016

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814

2016

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy. 25565401

2015

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. 26364767

2015

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Somatic mosaicism for a FOXG1 mutation: diagnostic implication. 24766421

2014

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831

2014

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. 22998673

2012

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. 21441262

2011

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 19578037

2010

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation. 20356955

2010

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR FOXG1 is responsible for the congenital variant of Rett syndrome. 18571142

2008

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Prospective observations on stopping prolonged venom immunotherapy. 2760358

1989