SIX5, SIX homeobox 5, 147912

N. diseases: 38; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 GeneticVariation disease BEFREE We thereby identified heterozygous mutations in SIX5 as a novel cause of BOR. 17357085 2007
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 GeneticVariation disease BEFREE Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. 23840632 2013
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 GeneticVariation disease BEFREE Further investigation is warranted regarding the contribution of SIX1 and SIX5 mutations to BOR syndrome in East Asian populations. 22447252 2012
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 AlteredExpression disease BEFREE Semiquantitative multiplex reverse transcriptase PCR (RT/PCR) assays of gene expression from the chromosomes carrying the expanded alleles showed marked reduction of DMPK mRNA, partial inhibition of SIX5 expression from a congenital DM chromosome, and no reduction of DMWD mRNA. 11592825 2001
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 AlteredExpression disease BEFREE Together, these results demonstrate that CTG-repeat expansions can suppress local gene expression and implicate DMAHP in DM pathogenesis. 9241282 1997
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 AlteredExpression disease BEFREE An expansion of a CTG repeat at the DM1 locus causes myotonic dystrophy (DM) by altering the expression of the two adjacent genes, DMPK and SIX5, and through a toxic effect of the repeat-containing RNA. 11479593 2001
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 Biomarker disease BEFREE Quantitative analysis of RNA also indicates that although the level of cytoplasmic DMPK transcript is altered in DM patients, the levels of transcripts from 59 and DMAHP, two genes that immediately flank DMPK, are unaffected in DM cell lines. 9207102 1997
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 Biomarker disease BEFREE These include lamin A/C in autosomal dominant Emery-Dreifuss muscular dystrophy, SMN in spinal muscular atrophy, SIX5 in myotonic dystrophy, calpain3 in type 2A limb-girdle muscular dystrophy, PABP2 in oculopharyngeal dystrophy, androgen receptor in spinal and bulbar muscular atrophy and the ataxins in hereditary ataxias. 10838245 2000
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 Biomarker disease BEFREE Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1. 11978764 2002
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 GeneticVariation disease BEFREE Parallel study of DM2, a closely related form of myotonic dystrophy, has revealed a similar mechanism, but also made clear that part of the attention should remain focused on a possible role for candidate loss-of-function genes from the DM1 locus itself (like DMWD, DMPK and SIX5) or elsewhere in the genome, to find explanations for clinical aspects that are unique to DM1. 14526185 2003
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 AlteredExpression disease BEFREE We report an expression pattern for SIX5 in the normal adult eye that matches the sites of the ocular pathology in DM. 9949207 1999
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 AlteredExpression disease BEFREE We show here that DMAHP expression in myoblasts, muscle and myocardium is reduced by the DM mutation is cis, and the magnitude of this effect depends on the extent of CTG repeat expansion. 9241283 1997
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 AlteredExpression disease BEFREE The total mRNA level of DMAHP/SIX5 was significantly lower in DM than in controls, but the DMPK mRNA level was unchanged. 10951446 2000
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		0.040 GeneticVariation disease BEFREE This change in chromatin structure has been proposed as a mechanism whereby the expression of DMPK and neighboring genes, sine oculis homeobox (Drosophila) homolog 5 (SIX5) and dystrophia myotonica-containing WD repeat motif (DMWD), might be affected. 11592825 2001
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		0.040 AlteredExpression disease BEFREE Together, these results demonstrate that CTG-repeat expansions can suppress local gene expression and implicate DMAHP in DM pathogenesis. 9241282 1997
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		0.040 AlteredExpression disease BEFREE Our results not only identify Six5 as an activator that directs Igfbp5 expression but also suggest that reduced SIX5 expression in DM1 might contribute to specific aspects of the DM1 phenotype. 11978764 2002
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		0.040 AlteredExpression disease BEFREE We show here that DMAHP expression in myoblasts, muscle and myocardium is reduced by the DM mutation is cis, and the magnitude of this effect depends on the extent of CTG repeat expansion. 9241283 1997
CUI: C0006272
Disease: Bronchiolitis Obliterans
Bronchiolitis Obliterans 		0.020 Biomarker disease BEFREE Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome. 23840632 2013
CUI: C0006272
Disease: Bronchiolitis Obliterans
Bronchiolitis Obliterans 		0.020 Biomarker disease BEFREE Dominant mutations in the human homologues of the Drosophila eyes absent (EYA1) gene, and the Drosophila sine oculis homeobox 1 and 5 (SIX1 and SIX5, respectively) genes have been causally associated with BO syndrome. 29257230 2018
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		0.020 Biomarker disease BEFREE Decreased levels of DMPK (Dystrophia Myotonica-protein kinase), SIX5, a transcription factor or MBNL1 (Muscleblind-like 1), an RNA splice regulator have been demonstrated to contribute to distinct features of cDM1. 20360842 2010
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		0.020 AlteredExpression disease BEFREE Reduced expression of DMAHP was observed in tissues from the patient with congenital myotonic dystrophy. 10573472 1999
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 GeneticVariation group BEFREE Five of the six corresponding germline V genes have been found to encode either natural autoantibodies or autoantibodies in other autoimmune disorders; and three of the six V genes have been found in fetal liver. 8200991 1994
CUI: C0086543
Disease: Cataract
Cataract 		0.010 AlteredExpression disease BEFREE Furthermore, the expression of SIX5 and not DMPK in the adult lens implicates a role for SIX5 dysfunction in the development of adult onset cataracts, the most frequently occurring eye phenotype in DM. 9949207 1999
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		0.010 AlteredExpression disease BEFREE Corticotropin releasing hormone binding protein is consistently the up-regulated lncRNA with the highest fold-change in PCOS-T compared with either control or PCOS-N. Gene ontology and pathway analysis showed that dysregulated lncRNA in PCOS-T have a regulatory role in mitochondrial function by interacting with transcription factors such as YY1 and SIX5. 30224242 2018
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.010 AlteredExpression disease BEFREE Furthermore, the expression of SIX5 and not DMPK in the adult lens implicates a role for SIX5 dysfunction in the development of adult onset cataracts, the most frequently occurring eye phenotype in DM. 9949207 1999