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.