Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6297
Gene Symbol: SALL2
SALL2
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.420 Biomarker BEFREE Consistently, SALL2 deficiency associates with neural tube defects and coloboma, a congenital eye disease. 28430874

2017
Entrez Id: 6297
Gene Symbol: SALL2
SALL2
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.420 GeneticVariation BEFREE Here, we identified a novel homozygous mutation in the SALL2 gene in members of a consanguineous family affected with non-syndromic ocular coloboma variably affecting the iris and retina. 24412933

2014