SALL4, spalt like transcription factor 4, 57167

N. diseases: 245; N. variants: 17
Disease: Holt-Oram syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		0.350 Biomarker disease CTD_human Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome. 30067223 2018
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		0.350 GeneticVariation disease BEFREE When genetic analyses coupled with bioinformatic analyses, we identified a SALL4 gene rare mutation which might contribute to a newborn with HOS. 29461882 2018
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		0.350 Biomarker disease BEFREE The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases. 28807863 2017
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		0.350 GeneticVariation disease BEFREE SALL4 mutations may also cause acro-renal-ocular syndrome (AROS), which differs from DRRS by the presence of structural eye anomalies, and phenotypes similar to thalidomide embryopathy and Holt-Oram syndrome (HOS). 16086360 2005
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		0.350 GeneticVariation disease BEFREE We analysed further families/patients with the clinical diagnosis of Holt-Oram syndrome and acro-renal-ocular syndrome for SALL4 mutations. 12843316 2003
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		0.350 GeneticVariation disease BEFREE Seventeen mutations, including six missense mutations in TBX5 and two mutations in SALL4, were found in 19 kindreds with HOS. 12789647 2003