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 We propose a model for the pathogenesis of TBS in which truncated Sall1 protein causes derepression of Sall-responsive target genes. 18470945 2008
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease BEFREE This region includes SALL1, which causes Townes-Brocks syndrome. 20003547 2009
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE Taken together, they do not support the correlation of SALL1 deletions with a milder TBS phenotype and highlight a need for more robust clinical phenotyping combined with investigation of mutational mechanism. 22308078 2012
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE Here we present 12 novel mutations in SALL1 associated with Townes-Brocks syndrome in 13 unrelated families. 16088922 2005
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 Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. 19204018 2009
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE Mutations in the SALL1 gene on chromosome 16q12.1 cause Townes-Brocks syndrome (TBS). 12200128 2002
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease BEFREE Furthermore, the Hsal 1 gene product may play a part in the pathogenesis of specific neoplasms occurring in these organs in addition to its specific role in Townes-Brocks syndrome. 11511981 2001
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE Mutations of SALL1 on chromosome 16q12.1 cause Townes-Brocks syndrome (TBS, OMIM 107480). 16443351 2006
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 CausalMutation disease CLINVAR Here we present 12 novel mutations in SALL1 associated with Townes-Brocks syndrome in 13 unrelated families. 16088922 2005
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 Biomarker disease CTD_human Here we present 12 novel mutations in SALL1 associated with Townes-Brocks syndrome in 13 unrelated families. 16088922 2005
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease MGD We propose a model for the pathogenesis of TBS in which truncated Sall1 protein causes derepression of Sall-responsive target genes. 18470945 2008
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease 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: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE To date, 36 SALL1 mutations have been described in TBS patients. 17221874 2007
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease 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: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE In SALL1, a mutant allele causing Townes-Brocks syndrome was unexpectedly resistant to NMD, whereas a different mutation causing a much milder phenotype was susceptible to NMD. 18000979 2007
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 Biomarker disease BEFREE We hypothesize that interactions of SHH and SALL1 explain the overlapping features of the family described here and patients with Townes-Brocks syndrome. 22903933 2012
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE We present a case of TBS with a proven SALL1 mutation associated with unique ophthalmic features. 19005989 2008
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease BEFREE Gene mutations that have dominant inheritance and cause RHD, urinary tract anomalies, and defined extrarenal symptoms have been identified in TCF2 (renal cysts and diabetes syndrome), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 (branchio-oto-renal syndrome), and SALL1 (Townes-Brocks syndrome). 16971658 2006
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 We traced the parental origin of SALL1 mutations in sporadic TBS by analysis of linkage between SALL1 mutations and exonic or intronic polymorphisms in 16 families with 10 different mutations. 16892410 2006
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 Biomarker disease MGD Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. 12915476 2003