Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7855
Gene Symbol: FZD5
FZD5 		0.300 GermlineCausalMutation disease ORPHANET A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. 26908622 2016
Entrez Id: 6297
Gene Symbol: SALL2
SALL2 		0.300 GermlineCausalMutation disease ORPHANET Mutation of SALL2 causes recessive ocular coloboma in humans and mice. 24412933 2014
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		0.300 GermlineCausalMutation disease ORPHANET ABCB6 mutations cause ocular coloboma. 22226084 2012
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 GermlineCausalMutation disease ORPHANET PAX6 missense mutations associated in patients with optic nerve malformation. 16604056 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 GermlineCausalMutation disease ORPHANET Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003
Entrez Id: 2248
Gene Symbol: FGF3
FGF3 		0.100 Biomarker disease HPO