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 Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 28151491 2017
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 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 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 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 CausalMutation 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 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 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 TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. 27668656 2016
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 CausalMutation 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 CausalMutation 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 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 CausalMutation phenotype CLINVAR Further delineation of the SATB2 phenotype. 24301056 2014
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 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 GeneticVariation phenotype CLINVAR The clinical significance of small copy number variants in neurodevelopmental disorders. 25106414 2014
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 CausalMutation phenotype CLINVAR The clinical significance of small copy number variants in neurodevelopmental disorders. 25106414 2014
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 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776 2013
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 GeneticVariation phenotype CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776 2013