SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Disease: Mild Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 GeneticVariation disease BEFREE Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]-box 3) (GenBank accession number NM_005634) at Xq26.3. 12428212 2002
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 Biomarker disease HPO