SALL1, spalt like transcription factor 1, 6299

N. diseases: 156; N. variants: 16
Disease: Limb Deformities, Congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		0.310 GeneticVariation group BEFREE We identified truncating mutations in SALL1 and GLI3 in patients with limb malformation and studied the contribution of nonsense-mediated decay (NMD) to the expression of mutant mRNA in patient-derived fibroblasts. 18000979 2007
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		0.310 Biomarker group CTD_human SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. 16088922 2005
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		0.310 Biomarker group CTD_human Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. 9425907 1998