rs587777277
|
|
Optic atrophy, intellectual disability syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs587777277
|
|
Optic atrophy, intellectual disability syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs587777276
|
|
Optic atrophy, intellectual disability syndrome
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs587777276
|
|
Optic atrophy, intellectual disability syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs587777275
|
|
Optic atrophy, intellectual disability syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs587777275
|
|
Optic atrophy, intellectual disability syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs587777274
|
|
Optic atrophy, intellectual disability syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs587777274
|
|
Optic atrophy, intellectual disability syndrome
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs863224903
|
|
Optic atrophy, intellectual disability syndrome
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
|
26986877 |
2016 |
rs1554075105
|
|
Optic atrophy, intellectual disability syndrome
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1554074850
|
|
Optic atrophy, intellectual disability syndrome
|
CT |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1554074684
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The genetic landscape of infantile spasms.
|
24781210 |
2014 |
rs1554074684
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
|
25877686 |
2015 |
rs1554074684
|
|
Muscle hypotonia
|
T |
0.700 |
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 |
rs1554074684
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
The nuclear orphan receptor COUP-TFI is required for differentiation of subplate neurons and guidance of thalamocortical axons.
|
10624948 |
1999 |
rs1554074684
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
|
26986877 |
2016 |
rs1554074684
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.
|
23300014 |
2013 |
rs1554074684
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
|
26986877 |
2016 |
rs1554074684
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The nuclear orphan receptor COUP-TFI is important for differentiation of oligodendrocytes.
|
14738874 |
2004 |
rs1554074684
|
|
Muscle hypotonia
|
T |
0.700 |
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 |
rs1554074684
|
|
Optic atrophy, intellectual disability syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1554074684
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
|
25877686 |
2015 |
rs1554074684
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
NR2F1 mutations cause optic atrophy with intellectual disability.
|
24462372 |
2014 |
rs1554074684
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.
|
23300014 |
2013 |
rs1554074684
|
|
Muscle hypotonia
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis.
|
20147377 |
2010 |