SATB2, SATB homeobox 2, 23314

N. diseases: 233; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 Biomarker disease BEFREE SATB2-associated syndrome is one example of a syndromic cleft palate that is accompanied by intellectual disability, and various dental anomalies. 30848049 2019
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 Biomarker disease BEFREE In the meta-analysis, we also did not find that the SATB2 was associated with nonsyndromic cleft palate risk, in Asians or in Caucasians. 30511632 2018
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 Biomarker disease GENOMICS_ENGLAND Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 28151491 2017
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 GeneticVariation disease BEFREE SATB2 variants should be considered in cases with psychomotor retardation alone or in any cases with Rett-like phenotypes, regardless of the typical features of SAS such as cleft palate. 26596517 2016
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 Biomarker disease BEFREE Haploinsufficiency of SATB2 causes cleft palate, intellectual disability with deficient speech, facial and dental abnormalities, and other variable features known collectively as SATB2-associated syndrome. 27409069 2016
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 GeneticVariation disease BEFREE In humans, chromosomal translocations and deletions of 2q33.1 leading to SATB2 haploinsufficiency are associated with cleft palate (CP), facial dysmorphism and intellectual disability (ID). 24301056 2014
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 GeneticVariation disease BEFREE One patient in this cohort has a deletion entirely within SATB2 and has a cleft palate, whereas several patients with larger deletions have a high arched palate. 21343628 2011
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 AlteredExpression disease BEFREE Here, we show that AEC p63 mutations affect the ability of the p63 protein to interact with special AT-rich binding protein-2 (SATB2), which has recently also been implicated in the development of cleft palate. p63 and SATB2 are co-expressed early in development in the ectoderm of the first and second branchial arches, two essential sites where signaling is required for craniofacial patterning. 21965674 2011
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 GeneticVariation disease BEFREE Whilst there is some variation in the phenotypes of patients with 2q3 deletions all share a commonly deleted region within 2q33.1 which includes SATB2, a gene previously shown to be associated with cleft palate. 19576302 2010
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 Biomarker disease CTD_human Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. 19170718 2009
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 GeneticVariation disease BEFREE Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 17377962 2007
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 Biomarker disease CTD_human We find that, similar to the way in which SATB2 is perceived to act in humans, craniofacial defects due to haploinsufficiency of Satb2, including cleft palate (in approximately 25% of cases), phenocopy those seen with 2q32-q33 deletions and translocations in humans. 16960803 2006
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 Biomarker disease MGD We find that, similar to the way in which SATB2 is perceived to act in humans, craniofacial defects due to haploinsufficiency of Satb2, including cleft palate (in approximately 25% of cases), phenocopy those seen with 2q32-q33 deletions and translocations in humans. 16960803 2006
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 GeneticVariation disease BEFREE Here we show by high-resolution FISH mapping of two de novo CPO-associated translocations involving 2q32-q33 that one breakpoint interrupts the transcription unit of the gene encoding the DNA-binding protein SATB2 (formerly KIAA1034). 12915443 2003
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 CausalMutation disease CLINVAR
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.890 Biomarker disease BEFREE SATB2-associated syndrome is one example of a syndromic cleft palate that is accompanied by intellectual disability, and various dental anomalies. 30848049 2019
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.890 Biomarker disease BEFREE In the meta-analysis, we also did not find that the SATB2 was associated with nonsyndromic cleft palate risk, in Asians or in Caucasians. 30511632 2018
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.890 Biomarker disease BEFREE Haploinsufficiency of SATB2 causes cleft palate, intellectual disability with deficient speech, facial and dental abnormalities, and other variable features known collectively as SATB2-associated syndrome. 27409069 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.890 GeneticVariation disease BEFREE SATB2 variants should be considered in cases with psychomotor retardation alone or in any cases with Rett-like phenotypes, regardless of the typical features of SAS such as cleft palate. 26596517 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.890 GeneticVariation disease BEFREE In humans, chromosomal translocations and deletions of 2q33.1 leading to SATB2 haploinsufficiency are associated with cleft palate (CP), facial dysmorphism and intellectual disability (ID). 24301056 2014
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.890 GeneticVariation disease BEFREE One patient in this cohort has a deletion entirely within SATB2 and has a cleft palate, whereas several patients with larger deletions have a high arched palate. 21343628 2011
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.890 AlteredExpression disease BEFREE Here, we show that AEC p63 mutations affect the ability of the p63 protein to interact with special AT-rich binding protein-2 (SATB2), which has recently also been implicated in the development of cleft palate. p63 and SATB2 are co-expressed early in development in the ectoderm of the first and second branchial arches, two essential sites where signaling is required for craniofacial patterning. 21965674 2011
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.890 GeneticVariation disease BEFREE Whilst there is some variation in the phenotypes of patients with 2q3 deletions all share a commonly deleted region within 2q33.1 which includes SATB2, a gene previously shown to be associated with cleft palate. 19576302 2010
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.890 Biomarker disease CTD_human Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. 19170718 2009
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.890 GeneticVariation disease BEFREE Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 17377962 2007