SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Disease: Mental Retardation, X-Linked, With Panhypopituitarism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678223
Disease: Mental Retardation, X-Linked, With Panhypopituitarism
Mental Retardation, X-Linked, With Panhypopituitarism 		0.600 Biomarker disease GENOMICS_ENGLAND Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. 15800844 2005
CUI: C2678223
Disease: Mental Retardation, X-Linked, With Panhypopituitarism
Mental Retardation, X-Linked, With Panhypopituitarism 		0.600 Biomarker disease GENOMICS_ENGLAND Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. 15800844 2005
CUI: C2678223
Disease: Mental Retardation, X-Linked, With Panhypopituitarism
Mental Retardation, X-Linked, With Panhypopituitarism 		0.600 Biomarker disease GENOMICS_ENGLAND Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings. 8826446 1996
CUI: C2678223
Disease: Mental Retardation, X-Linked, With Panhypopituitarism
Mental Retardation, X-Linked, With Panhypopituitarism 		0.600 Biomarker disease GENOMICS_ENGLAND [Coordination of individualized diagnosis and therapy of prostatic cancer]. 6167084 1981
CUI: C2678223
Disease: Mental Retardation, X-Linked, With Panhypopituitarism
Mental Retardation, X-Linked, With Panhypopituitarism 		0.600 GeneticVariation disease CLINVAR
CUI: C2678223
Disease: Mental Retardation, X-Linked, With Panhypopituitarism
Mental Retardation, X-Linked, With Panhypopituitarism 		0.600 Biomarker disease CTD_human