SALL2, spalt like transcription factor 2, 6297

N. diseases: 42; N. variants: 1
Disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4011974
Disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE 		0.400 CausalMutation disease CLINVAR
CUI: C4011974
Disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE 		0.400 Biomarker disease GENOMICS_ENGLAND Mutation of SALL2 causes recessive ocular coloboma in humans and mice. 24412933 2014
CUI: C4011974
Disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE 		0.400 Biomarker disease GENOMICS_ENGLAND Mutation of SALL2 causes recessive ocular coloboma in humans and mice. 24412933 2014