SALL2, spalt like transcription factor 2, 6297

N. diseases: 42; N. variants: 1
Disease: Coloboma of eyelid ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		0.300 GermlineCausalMutation phenotype ORPHANET Mutation of SALL2 causes recessive ocular coloboma in humans and mice. 24412933 2014