FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Disease: FOXG1 syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124204
rs398124204
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		CG 0.700 CausalMutation CLINVAR Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. 28851325 2017
dbSNP: rs398124204
rs398124204
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		CG 0.700 CausalMutation CLINVAR The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814 2016
dbSNP: rs398124204
rs398124204
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		C 0.700 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831 2014
dbSNP: rs398124204
rs398124204
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		CG 0.700 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831 2014
dbSNP: rs398124204
rs398124204
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		C 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs398124204
rs398124204
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		CG 0.700 CausalMutation CLINVAR The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. 21441262 2011
dbSNP: rs398124204
rs398124204
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome 		CG 0.700 CausalMutation CLINVAR Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. 19806373 2010