SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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
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
Mental Retardation, X-Linked, With Panhypopituitarism
0.600 Biomarker disease GENOMICS_ENGLAND [Coordination of individualized diagnosis and therapy of prostatic cancer]. 6167084 1981
Mental Retardation, X-Linked, With Panhypopituitarism
0.600 GeneticVariation disease CLINVAR
Mental Retardation, X-Linked, With Panhypopituitarism
0.600 Biomarker disease CTD_human
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
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.460 Biomarker disease BEFREE Mutations in the GH1 and GHRHR genes shed light on the phenotype and pathogenesis of IGHD whereas mutations in transcription factors such as HESX1, PROP1, POU1F1, LHX3, LHX4, GLI2 and SOX3 contributed to the understanding of CPHD. 27974184 2016
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.460 Biomarker disease BEFREE 80 index cases [54 with isolated growth hormone deficiency (IGHD), 26 with combined pituitary hormone deficiency (CPHD)] were screened for molecular defects in GH1 (including LCR-GH1), GHRHR, GHSR, GHRH, PROP1, POU1F1, HESX1, LHX3, LHX4 and SOX3. 25557026 2015
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.460 Biomarker disease BEFREE In humans, over- and underdosage of SOX3 is associated with X-linked hypopituitarism with variable phenotypes ranging from isolated GH deficiency (GHD) to panhypopituitarism, with or without mental retardation and, in most cases, with reported pituitary imaging, an ectopic/undescended posterior pituitary. 25140394 2014
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.460 GeneticVariation disease BEFREE Female carriers of SOX3 PA tract deletions will show a broad phenotypic spectrum, ranging from clinically normal to CPHD. 24346842 2014
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.460 GeneticVariation disease BEFREE As rare abnormalities, we identified a submicroscopic deletion involving FGFR1 and an SOX3 polyalanine deletion in patients with IHH, and a WDR11 splice site mutation in a patient with CPHD. 25064402 2014
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.460 GermlineCausalMutation disease ORPHANET Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. 15800844 2005
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.460 GeneticVariation disease BEFREE Next, we identified a novel seven-alanine expansion within a polyalanine tract in SOX3 in a family with panhypopituitarism in three male siblings with an absent infundibulum, severe APH, and EPP. 15800844 2005
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.460 Biomarker disease HPO
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
0.420 GermlineCausalMutation disease ORPHANET New insights into septo-optic dysplasia. 24802313 2014
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
0.420 GermlineCausalMutation disease ORPHANET Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. 21396578 2011
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
0.420 Biomarker disease BEFREE However, a number of familial cases have been described and the identification of mutations in key developmental genes including HESX1, SOX2 and SOX3 in patients with SOD and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition. 18259104 2008
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
0.420 GeneticVariation disease BEFREE More recently, we have implicated duplications of SOX3 and mutations of both SOX2 and SOX3 in the aetiology of variants of SOD. 17587179 2007
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
0.420 GeneticVariation disease LHGDN More recently, we have implicated duplications of SOX3 and mutations of both SOX2 and SOX3 in the aetiology of variants of SOD. 17587179 2007