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: rs104893805
rs104893805
Entrez Id: 6657;347689
Gene Symbol: SOX2;SOX2-OT
SOX2;SOX2-OT
CUI: C1859773
Disease:
Microphthalmia, Syndromic 3 		0.800 GeneticVariation UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
dbSNP: rs104893805
rs104893805
Entrez Id: 6657;347689
Gene Symbol: SOX2;SOX2-OT
SOX2;SOX2-OT
CUI: C1859773
Disease:
Microphthalmia, Syndromic 3 		0.800 GeneticVariation UNIPROT Mutations in SOX2 cause anophthalmia. 12612584 2003
dbSNP: rs104893805
rs104893805
Entrez Id: 6657;347689
Gene Symbol: SOX2;SOX2-OT
SOX2;SOX2-OT
CUI: C1859773
Disease:
Microphthalmia, Syndromic 3 		C 0.800 CausalMutation CLINVAR