Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 347689
Gene Symbol: SOX2-OT
SOX2-OT
0.100 CausalMutation disease CLINVAR A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency. 24211324 2014
Entrez Id: 347689
Gene Symbol: SOX2-OT
SOX2-OT
0.100 CausalMutation disease CLINVAR Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. 24498598 2013
Entrez Id: 347689
Gene Symbol: SOX2-OT
SOX2-OT
0.100 CausalMutation disease CLINVAR Parent-of-origin effects in SOX2 anophthalmia syndrome. 22171155 2011
Entrez Id: 347689
Gene Symbol: SOX2-OT
SOX2-OT
0.100 CausalMutation disease CLINVAR Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. 19921648 2009