SALL4, spalt like transcription factor 4, 57167

N. diseases: 245; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740404
Disease: Limb defects
Limb defects
0.020 Biomarker group BEFREE A transcription factor called SALL4 could be the missing link between thalidomide and the limb defects caused by the drug. 30252647 2018
CUI: C0740404
Disease: Limb defects
Limb defects
0.020 GeneticVariation group BEFREE Heterozygous mutations of SALL4 on chromosome 20q13.13--> q13.2 cause the autosomal dominant Okihiro syndrome which is characterized by radial limb defects, Duane anomaly and hearing loss. 12826753 2002