SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Disease: Microphthalmia, Syndromic 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease GENOMICS_ENGLAND SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant. 29371155 2018
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 GeneticVariation disease BEFREE Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome. 27862890 2017
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 GeneticVariation disease UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease GENOMICS_ENGLAND The genetic architecture of microphthalmia, anophthalmia and coloboma. 24859618 2014
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 GermlineCausalMutation disease ORPHANET Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 CausalMutation disease CLINVAR A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency. 24211324 2014
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 CausalMutation disease CLINVAR Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. 24498598 2013
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease GENOMICS_ENGLAND Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. 21326281 2011
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 CausalMutation disease CLINVAR Parent-of-origin effects in SOX2 anophthalmia syndrome. 22171155 2011
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease BEFREE Sex determining region Y (SRY)-box 2 (SOX2) anophthalmia syndrome is an autosomal dominant disorder manifesting as severe developmental eye malformations associated with brain, esophageal, genital, and kidney abnormalities. 22171155 2011
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease BEFREE The role of SOX2 in dental development remains unknown, however, multiple supernumerary teeth can be considered as extraocular symptoms of SOX2 anophthalmia syndrome, rather than the coincidence of two rare diseases. 20803647 2010
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 GeneticVariation disease BEFREE The recurrent de novo frameshift mutation c.70del20 was identified in one patient with microphthalmia and syndromic anomalies consistent with SOX2 anophthalmia syndrome; the mutation frequency in our A/M population (4%) was lower than previously reported; it is likely that extensive utilization of clinical SOX2 testing has led to a bias toward SOX2-negative A/M cases in our research cohort. 20454695 2010
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 CausalMutation disease CLINVAR Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. 19921648 2009
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 GeneticVariation disease BEFREE Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. 16543359 2006
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease GENOMICS_ENGLAND Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. 16283891 2005
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease GENOMICS_ENGLAND Mutations in SOX2 cause anophthalmia. 12612584 2003
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 GeneticVariation disease UNIPROT Mutations in SOX2 cause anophthalmia. 12612584 2003
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease GENOMICS_ENGLAND Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)]. 8741917 1996
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		0.750 Biomarker disease CTD_human