|
Branchiootorenal Syndrome 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
|
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 |
|
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 |
|
Cleft Palate
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congenital ear anomaly NOS (disorder)
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
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 |
|
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 |
|
Congenital small ears
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.
|
9949207 |
1999 |
|
Coronary Artery Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Of these, a variant at CAPN3 (P = 1.2 × 10-4), multiple variants at HPR (Pmin = 1.5 × 10-6) and a variant at SIX5 (P = 1.9 × 10-4) showed evidence for association with CAD.
|
27864399 |
2017 |
|
Enlarged cochlear aqueduct
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Facial paralysis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
hearing impairment
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Hemifacial hypoplasia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Hydronephrosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
|
Hypoplasia of the cochlea
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Multicystic Dysplastic Kidney
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1.
|
11978764 |
2002 |
|
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 |