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.