SALL2, spalt like transcription factor 2, 6297

N. diseases: 42; N. variants: 1
Disease: Congenital ocular coloboma (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.420 Biomarker disease BEFREE Consistently, SALL2 deficiency associates with neural tube defects and coloboma, a congenital eye disease. 28430874 2017
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.420 GeneticVariation disease 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
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.420 Biomarker disease CTD_human
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.420 Biomarker disease HPO