| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.800 | GeneticVariation | UNIPROT | Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. | 24033328 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in SOX2 cause anophthalmia. | 12612584 | 2003 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations. | 27427475 | 2016 | ||||||
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ACCTCGG | 0.700 | CausalMutation | CLINVAR | A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency. | 24211324 | 2014 | ||||||
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ACCTCGG | 0.700 | CausalMutation | CLINVAR | Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. | 24498598 | 2013 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Parent-of-origin effects in SOX2 anophthalmia syndrome. | 22171155 | 2011 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome. | 20803647 | 2010 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. | 19921648 | 2009 | ||||||
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ACCTCGG | 0.700 | CausalMutation | CLINVAR | Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. | 19921648 | 2009 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. | 19921648 | 2009 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. | 17219395 | 2007 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. | 16932809 | 2006 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | SOX2 anophthalmia syndrome. | 15812812 | 2005 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry. | 15578584 | 2005 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. | 16145681 | 2005 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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TC | 0.700 | CausalMutation | CLINVAR |