SATB2, SATB homeobox 2, 23314

N. diseases: 233; N. variants: 38
Disease: Chromosome 2q32-Q33 Deletion Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		0.700 CausalMutation disease CLINVAR Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 28151491 2017
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		0.700 CausalMutation disease CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		0.700 CausalMutation disease CLINVAR Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. 25885067 2015
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		0.700 CausalMutation disease CLINVAR Further delineation of the SATB2 phenotype. 24301056 2014
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		0.700 CausalMutation disease CLINVAR Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 17377962 2007
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		0.700 ChromosomalRearrangement disease ORPHANET The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. 16179223 2005
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. 16179223 2005
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		0.700 Biomarker disease CTD_human
CUI: C2676739
Disease: Chromosome 2q32-Q33 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome 		0.700 GeneticVariation disease CLINVAR