SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Disease: Panhypopituitarism - X-linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342376
Disease: Panhypopituitarism - X-linked
Panhypopituitarism - X-linked 		0.510 GeneticVariation disease BEFREE Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). 29175558 2018
CUI: C0342376
Disease: Panhypopituitarism - X-linked
Panhypopituitarism - X-linked 		0.510 Biomarker disease GENOMICS_ENGLAND Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. 15800844 2005
CUI: C0342376
Disease: Panhypopituitarism - X-linked
Panhypopituitarism - X-linked 		0.510 Biomarker disease GENOMICS_ENGLAND Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. 15800844 2005
CUI: C0342376
Disease: Panhypopituitarism - X-linked
Panhypopituitarism - X-linked 		0.510 Biomarker disease GENOMICS_ENGLAND [Coordination of individualized diagnosis and therapy of prostatic cancer]. 6167084 1981
CUI: C0342376
Disease: Panhypopituitarism - X-linked
Panhypopituitarism - X-linked 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C0342376
Disease: Panhypopituitarism - X-linked
Panhypopituitarism - X-linked 		0.510 Biomarker disease CTD_human