SATB2, SATB homeobox 2, 23314

N. diseases: 233; N. variants: 38
Disease: Chromosome 2q32-Q33 Deletion Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853127
rs137853127
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
CUI: C2676739
Disease:
Chromosome 2q32-Q33 Deletion Syndrome 		A 0.700 CausalMutation CLINVAR Further delineation of the SATB2 phenotype. 24301056 2014
dbSNP: rs137853127
rs137853127
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
CUI: C2676739
Disease:
Chromosome 2q32-Q33 Deletion Syndrome 		A 0.700 CausalMutation CLINVAR Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 17377962 2007