Condition: Coloboma of optic disc


rs886037758 in KIF26B;LOC105373265 gene and Coloboma of optic disc PMID 26571382 2015 Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.

rs886037754 in PAX2 gene and Coloboma of optic disc PMID 26571382 2015 Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.

rs121907925 in PAX6 gene and Coloboma of optic disc PMID 12721955 2003 Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

rs793888540 in TFAP2A-AS2;TFAP2A gene and Coloboma of optic disc PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.