Gene: SATB2 ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 GeneticVariation phenotype 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 		0.100 CausalMutation phenotype 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 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 17377962 2007
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 CausalMutation phenotype CLINVAR Further delineation of the SATB2 phenotype. 24301056 2014
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 CausalMutation phenotype CLINVAR A locus for isolated cleft palate, located on human chromosome 2q32. 10417281 1999
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 CausalMutation phenotype CLINVAR TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. 27668656 2016
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. 25885067 2015
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 GeneticVariation phenotype CLINVAR Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 28151491 2017
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 GeneticVariation phenotype CLINVAR TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. 27668656 2016
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 GeneticVariation phenotype CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 GeneticVariation phenotype CLINVAR Further delineation of the SATB2 phenotype. 24301056 2014
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 Biomarker phenotype HPO
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 CausalMutation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR DEPDC5 mutations in familial and sporadic focal epilepsy. 28170089 2017
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. 16751105 2006
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 CausalMutation phenotype CLINVAR DEPDC5 mutations in familial and sporadic focal epilepsy. 28170089 2017
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 GeneticVariation phenotype 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 		0.100 GeneticVariation phenotype CLINVAR Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 28139846 2017
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 CausalMutation phenotype CLINVAR SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. 16751105 2006
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 CausalMutation phenotype CLINVAR Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. 16960803 2006