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 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 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 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 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 To date, 36 SALL1 mutations have been described in TBS patients. 17221874 2007
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 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 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 GeneticVariation disease BEFREE We report on two unrelated patients with Townes-Brocks syndrome who share an identical SALL1 mutation (c.3414_3415delAT), who also have endocrine abnormalities. 23894113 2013
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 GeneticVariation disease BEFREE Mutations in SALL1, a gene mapping to chromosome 16q21.1, are responsible for TBS. 18280297 2008
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE Here, we provide evidence that SALL1 mutations might cause TBS by means beyond its transcriptional capacity. 29395072 2018
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		0.900 GeneticVariation disease BEFREE We applied quantitative real time PCR to detect and map SALL1 deletions in 240 patients with the clinical diagnosis of TBS, who were negative for SALL1 mutations.Deletions were found in three families. 16429401 2006
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 GeneticVariation disease BEFREE Sequencing of SALL1, the gene mutated in TBS, in four of the eight patients revealed one with a C --> T transition (resulting in a nonsense mutation R276X) at a previously identified mutational "hot spot." 11478532 2002
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 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: 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: C3536714
Disease: Renal dysplasia
Renal dysplasia 		0.120 GeneticVariation disease BEFREE Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. 10654325 2000
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		0.110 GeneticVariation disease BEFREE Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. 10654325 2000
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.110 GeneticVariation group BEFREE Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. 17431915 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome. 23069192 2013