SALL2, spalt like transcription factor 2, 6297

N. diseases: 42; N. variants: 1
Disease: Hereditary macular coloboma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma 		0.300 GermlineCausalMutation disease ORPHANET Mutation of SALL2 causes recessive ocular coloboma in humans and mice. 24412933 2014