SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Disease: Growth failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878787
Disease: Growth failure
Growth failure 		0.010 GeneticVariation phenotype BEFREE Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure. 30125608 2018