SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Disease: Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848068
Disease: Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 		0.300 GermlineCausalMutation disease ORPHANET Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). 22139958 2012
CUI: C1848068
Disease: Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 		0.300 GermlineCausalMutation disease ORPHANET Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. 12428212 2002