×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Optic atrophy, intellectual disability syndrome
0.750
GeneticVariation
CLINVAR
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
26986877
2016
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Optic atrophy, intellectual disability syndrome
0.750
CausalMutation
CLINVAR
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation.
28654857
2017
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation.
28654857
2017
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
CausalMutation
CLINVAR
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
26986877
2016
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
26138355
2016
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
26138355
2016
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
26986877
2016
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
25877686
2015
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
25877686
2015
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
NR2F1 mutations cause optic atrophy with intellectual disability.
24462372
2014
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
The genetic landscape of infantile spasms.
24781210
2014
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
CausalMutation
CLINVAR
NR2F1 mutations cause optic atrophy with intellectual disability.
24462372
2014
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
CausalMutation
CLINVAR
The genetic landscape of infantile spasms.
24781210
2014
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.
23300014
2013
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
CausalMutation
CLINVAR
NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.
23300014
2013
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis.
20147377
2010
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
CausalMutation
CLINVAR
COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis.
20147377
2010
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
The spatial patterning of mouse cone opsin expression is regulated by bone morphogenetic protein signaling through downstream effector COUP-TF nuclear receptors.
19812316
2009
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
CausalMutation
CLINVAR
The spatial patterning of mouse cone opsin expression is regulated by bone morphogenetic protein signaling through downstream effector COUP-TF nuclear receptors.
19812316
2009
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
CausalMutation
CLINVAR
The nuclear orphan receptor COUP-TFI is important for differentiation of oligodendrocytes.
14738874
2004
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
The nuclear orphan receptor COUP-TFI is important for differentiation of oligodendrocytes.
14738874
2004
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
COUP-TFI: an intrinsic factor for early regionalization of the neocortex.
11511537
2001
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
CausalMutation
CLINVAR
COUP-TFI: an intrinsic factor for early regionalization of the neocortex.
11511537
2001
×
Entrez Id:
7025
Gene Symbol:
NR2F1
NR2F1
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
The nuclear orphan receptor COUP-TFI is required for differentiation of subplate neurons and guidance of thalamocortical axons.
10624948
1999