|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
|
2918541 |
1989 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
|
2918541 |
1989 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
A locus for isolated cleft palate, located on human chromosome 2q32.
|
10417281 |
1999 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
A locus for isolated cleft palate, located on human chromosome 2q32.
|
10417281 |
1999 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Identification of SATB2 as the cleft palate gene on 2q32-q33.
|
12915443 |
2003 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Identification of SATB2 as the cleft palate gene on 2q32-q33.
|
12915443 |
2003 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.
|
16751105 |
2006 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.
|
16751105 |
2006 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.
|
16960803 |
2006 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.
|
16960803 |
2006 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.
|
17377962 |
2007 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.
|
17377962 |
2007 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.
|
19576302 |
2010 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.
|
19576302 |
2010 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
|
19668335 |
2009 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation |
CLINVAR |
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
|
19668335 |
2009 |
|
| 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 |
|
| 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 |
CausalMutation |
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 |
Further delineation of the SATB2 phenotype.
|
24301056 |
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 |
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 |
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 |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |