SALL2, spalt like transcription factor 2, 6297

N. diseases: 42; N. variants: 1
Disease: Coloboma of optic disc ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.300 GermlineCausalMutation disease ORPHANET Mutation of SALL2 causes recessive ocular coloboma in humans and mice. 24412933 2014