SALL4, spalt like transcription factor 4, 57167

N. diseases: 245; N. variants: 17
Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 GeneticVariation disease BEFREE Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. 27661448 2017
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 Biomarker disease HPO