SALL1, spalt like transcription factor 1, 6299

N. diseases: 156; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease BEFREE Recently, the disease-causing gene for TBS was identified as SALL1, a zinc finger transcription factor. 11484202 2001
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE SALL1 mutations in Townes-Brocks syndrome and related disorders. 11102974 2000
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE Finally, the chromosome 16 breakpoint of a t(5;16)(p15.3;q12.1) translocation carried by a TBS-affected individual was mapped at least 180 kb telomeric to SALL1, thus indicating that a position effect underlies the disease in this individual. 10533063 1999
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 CausalMutation disease CLINVAR Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 9973281 1999
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE This suggests that only SALL1 mutations that remove the DZF domains result in TBS. 9973281 1999
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease BEFREE SALL1 has recently been found to be mutated in patients with Townes-Brocks syndrome (TBS, OMIM No.107480). 10343095 1999
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease CTD_human Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. 9425907 1998
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. 9425907 1998
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 CausalMutation disease CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2015
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 Biomarker disease MGD SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. 18470945 2008
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 Biomarker disease MGD Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. 12915476 2003
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 CausalMutation disease CLINVAR High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. 14627694 2003
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. 10533063 1999
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 9973281 1999
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease GENOMICS_ENGLAND Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 9973281 1999
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease HPO
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
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