SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Disease: Microphthalmia, Syndromic 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1560264973
rs1560264973
Entrez Id: 6657;347689
Gene Symbol: SOX2;SOX2-OT
SOX2;SOX2-OT
CUI: C1859773
Disease:
Microphthalmia, Syndromic 3 		ACCTCGG 0.700 CausalMutation CLINVAR A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency. 24211324 2014
dbSNP: rs1560264973
rs1560264973
Entrez Id: 6657;347689
Gene Symbol: SOX2;SOX2-OT
SOX2;SOX2-OT
CUI: C1859773
Disease:
Microphthalmia, Syndromic 3 		ACCTCGG 0.700 CausalMutation CLINVAR Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. 24498598 2013
dbSNP: rs1560264973
rs1560264973
Entrez Id: 6657;347689
Gene Symbol: SOX2;SOX2-OT
SOX2;SOX2-OT
CUI: C1859773
Disease:
Microphthalmia, Syndromic 3 		ACCTCGG 0.700 CausalMutation CLINVAR Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. 19921648 2009