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
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.420 GermlineCausalMutation disease ORPHANET 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 Biomarker disease HPO
CUI: C0432475
Disease: XX males
XX males 		0.330 AlteredExpression disease BEFREE This is the first demonstration of altered SOX3 expression in an individual with XX male sex reversal and suggests that SOX3 can substitute for SRY to initiate male development in humans. 25781358 2015
CUI: C0432475
Disease: XX males
XX males 		0.330 Biomarker disease BEFREE These data provide additional evidence that SOX3 gain-of-function in the XX bipotential gonad causes XX male sex reversal and further support the hypothesis that SOX3 is the evolutionary antecedent of SRY. 22678921 2012
CUI: C0432475
Disease: XX males
XX males 		0.330 GermlineCausalMutation disease ORPHANET These data provide additional evidence that SOX3 gain-of-function in the XX bipotential gonad causes XX male sex reversal and further support the hypothesis that SOX3 is the evolutionary antecedent of SRY. 22678921 2012
CUI: C0432475
Disease: XX males
XX males 		0.330 GermlineCausalMutation disease ORPHANET Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal. 21183788 2011
CUI: C0432475
Disease: XX males
XX males 		0.330 GeneticVariation disease BEFREE Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal. 21183788 2011
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		0.310 AlteredExpression disease BEFREE We previously reported 5 cases of SRY-negative 46,XX testicular disorders of sex development and demonstrated that coordinated expression of genes such as SOX9, SOX3, and DAX1 was associated with testicular development. 24149105 2013
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		0.310 GermlineCausalMutation disease ORPHANET XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. 22678921 2012
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		0.310 GermlineCausalMutation disease ORPHANET Identification of SOX3 as an XX male sex reversal gene in mice and humans. 21183788 2011
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.300 GermlineCausalMutation disease ORPHANET New insights into septo-optic dysplasia. 24802313 2014
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: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. 21396578 2011
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		0.300 GermlineCausalMutation disease ORPHANET X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. 21636067 2011
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Genetics of septo-optic dysplasia. 17587179 2007
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
CUI: C3151782
Disease: 46,XX SEX REVERSAL 3
46,XX SEX REVERSAL 3 		0.300 Biomarker disease GENOMICS_ENGLAND Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings. 8826446 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group BEFREE Xq27.1 duplication encompassing SOX3 has been implicated in the aetiology of X-linked hypopituitarism associated with intellectual disability and neural tube defects. 31678974 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE All of the patients studied who had both HB and ID had deletion of the SOX3 gene. 27477789 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group BEFREE SOX3 involvement should be considered in a male with short stature due to GH deficiency associated with intellectual disability. 25402377 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Both duplications encompassing SOX3 and loss-of function mutations in SOX3 have been reported in a minor portion of X-linked isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency (CPHD) patients with or without mental retardation. 24346842 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE In humans, duplication of SOX3 and polyalanine expansions at its C-terminus may cause intellectual disability and hypopituitarism. 23463539 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Both overdosage of SOX3, as a result of gene duplication, and loss of function resulting from expansion of the first polyalanine (PA) tract are associated with variable degrees of hypopituitarism, with or without mental retardation. 21289259 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation. 17627381 2007