| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
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0.160 | GeneticVariation | BEFREE | This review will focus on MAC phenotypes that are associated with mutation of the genes SOX2, OTX2, PAX6, STRA6, ALDH1A3, RARB, VSX2, RAX, FOXE3, BMP4, BMP7, GDF3, GDF6, ABCB6, ATOH7, C12orf57, TENM3 (ODZ3), and VAX1. | 24859618 | 2014 |
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0.160 | Biomarker | BEFREE | Furthermore, Sox2(HYP) eyes exhibit a loss of neural potential and coloboma, a common phenotype in SOX2 haploinsufficient humans that has not been described in a mouse model of SOX2 deficiency. | 22522080 | 2014 |
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0.160 | Biomarker | BEFREE | While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia. | 23613260 | 2013 |
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0.160 | Biomarker | BEFREE | Screening of SOX2 was completed in 89 patients with a variety of ocular anomalies, including 28 with A/M and 61 with normal eye size and anterior segment dysgenesis (28), cataract (14), isolated coloboma (5), or other eye disorders (14). | 20454695 | 2010 |
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0.160 | GeneticVariation | BEFREE | Mutation in SOX2 is associated with typical ocular coloboma and probably other anomalies in this Chinese family. | 18474784 | 2008 |
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0.160 | GeneticVariation | BEFREE | Individuals with SOX2 mutations have major eye abnormalities including anophthalmia, microphthalmia, and coloboma. | 18987493 | 2008 |