|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.
|
28211976 |
2017 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.
|
28211976 |
2017 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
|
28151491 |
2017 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
|
28139846 |
2017 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
|
28151491 |
2017 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
DEPDC5 mutations in familial and sporadic focal epilepsy.
|
28170089 |
2017 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
DEPDC5 mutations in familial and sporadic focal epilepsy.
|
28170089 |
2017 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
|
28139846 |
2017 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.
|
27409069 |
2016 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
|
27668656 |
2016 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
|
27668656 |
2016 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.
|
27409069 |
2016 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
|
25885067 |
2015 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
|
25885067 |
2015 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Further delineation of the SATB2 phenotype.
|
24301056 |
2014 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
The clinical significance of small copy number variants in neurodevelopmental disorders.
|
25106414 |
2014 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
The clinical significance of small copy number variants in neurodevelopmental disorders.
|
25106414 |
2014 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
|
24363063 |
2014 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Further delineation of the SATB2 phenotype.
|
24301056 |
2014 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
|
24363063 |
2014 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.
|
23925499 |
2013 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |