FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205009
rs786205009
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome
T 0.800 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346 2014
dbSNP: rs786205009
rs786205009
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome
T 0.800 CausalMutation CLINVAR Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. 22091895 2012
dbSNP: rs786205009
rs786205009
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome
T 0.800 CausalMutation CLINVAR A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. 21280142 2011
dbSNP: rs786205009
rs786205009
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3150705
Disease:
FOXG1 syndrome
0.800 GeneticVariation UNIPROT