SALL1, spalt like transcription factor 1, 6299

N. diseases: 156; N. variants: 16
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 AlteredExpression group BEFREE Extinguished SALL1 expression and marked dysgenesis of nephron structures were observed in the rudimentary kidney tissue of SALL1-KO foetuses. 31142767 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 GeneticVariation group BEFREE Townes-Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1. 23894113 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 Biomarker group BEFREE Human SALL1 is a homologue of the Drosophila region-specific homeotic gene sal, and is also known as a causative gene for Townes-Brocks syndrome, which is characterized by multi-organ malformations. 20053786 2010
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 Biomarker group CTD_human Sall1 is expressed in the metanephric mesenchyme in the developing kidney, and mice deficient in Sall1 show kidney agenesis or dysgenesis. 20127799 2010
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 GeneticVariation group BEFREE Mutations in SALL1 lead to the dominant multiorgan congenital anomalies that define Townes-Brocks syndrome (TBS). 18470945 2008
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 Biomarker group BEFREE The SALL1 gene has been associated with the Townes-Brocks Syndrome (TBS), a disorder characterized by multiorgan dysgenesis including renal and genital malformations. 12065233 2002