Condition: Congenital ocular coloboma (disorder)


rs1329285216 in FFAR4;RBP4 gene and Congenital ocular coloboma (disorder) PMID 29178648 2017 Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

rs121907925 in PAX6 gene and Congenital ocular coloboma (disorder) PMID 12721955 2003 Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

rs397507547 in PTPN11 gene and Congenital ocular coloboma (disorder) PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 15834506 2005 Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.