Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3
0.500 Biomarker disease CTD_human Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome. 30067223 2018
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3
0.500 Biomarker disease MGD A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis. 17216607 2007
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3
0.500 Biomarker disease CTD_human A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. 16402211 2006
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3
0.500 Biomarker disease MGD Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. 16380715 2006
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3
0.500 Biomarker disease MGD The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. 16790473 2006