Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE Among them, the thermodynamically less stable TTTA and CCTG MDBs have been proposed to be the structural intermediates that cause TTTA and CCTG repeat expansions during DNA replication in <i>Staphylococcus aureus</i> pathogen and myotonic dystrophy type 2 patients, respectively. 31107180 2019
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE Myotonic dystrophy type 2 (DM2) is an autosomal dominant muscular dystrophy caused by the expansion of an intronic tetranucleotide CCTG repeat in CNBP on chromosome 3. 29533949 2018
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 GeneticVariation disease BEFREE These results show that [CCTG]n repeat expansion, differently from the DM1 mutation, does not influence the methylation status of the CNBP gene and suggest that other molecular mechanisms are involved in the pathogenesis of DM2. 29291944 2018
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE Myotonic dystrophy type 2 (DM2) is a neuromuscular disease caused by an expansion of intronic CCTG repeats in the <i>CNBP</i> gene, which encodes a protein regulating translation and transcription. 29735719 2018
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 GeneticVariation disease BEFREE The Genea066 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying expansion of CCTG repeats in exon 1 of the ZNF9 gene, indicative of Myotonic Dystrophy Type 2 (DM2). 27346023 2016
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 GeneticVariation disease BEFREE Genetic testing was positive for DM2 (2650 CCTG repeat) and for a variant c.215C>T (p.Pro72Leu) in the SCN4A gene. 25660391 2015
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE Myotonic dystrophy type 2 (DM2) is caused by a [CCTG] expansion in the ZNF9/CNBP gene. 26505324 2015
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE Tetranucleotide CCTG repeat expansion is associated with myotonic dystrophy type 2, which is an inherited and progressive muscle degeneration disease. 26384951 2015
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 GeneticVariation disease BEFREE Here, we report a patient with an 8 kb CCTG expansion in intron 1 of the CNBP gene, a mutation characteristic of myotonic dystrophy type 2 (DM2), whose first manifestation was "idiopathic" eosinophilic myositis. 25443993 2015
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE Repeat-primed PCR across the DM2 repeat revealed a characteristic ladder pattern of a CCTG expansion in all siblings. 24430576 2014
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE Myotonic dystrophy type 2 (DM2) is caused by an expansion of CCTG repeats in the zinc-finger protein gene (ZNF9). 24938413 2014
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 GeneticVariation disease BEFREE Myotonic Dystrophy Type-2 (DM2) is an autosomal dominant disease caused by the expansion of a CCTG tetraplet repeat. 22768114 2012
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome. 22723857 2012
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 GeneticVariation disease BEFREE Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystem disorder caused by a CCTG tetranucleotide repeat expansion located in intron 1 of the zinc finger protein 9 gene (ZNF9 gene) on chromosome 3q 21.3. 22332444 2011
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 GeneticVariation disease BEFREE Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystem disorder caused by CCTG repeat expansions within intron 1 of the ZNF9 gene on chromosome 3q. 20491895 2011
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 GeneticVariation disease BEFREE Molecular analysis revealed CCTG repeat expansions in the CNBP gene in all affected members, confirming that they have myotonic dystrophy type 2. 21204798 2011
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 GeneticVariation disease BEFREE Expansion of non-coding CTG and CCTG repeats in the 3' UTR of the myotonin protein kinase (DMPK) gene in Myotonic Dystrophy type 1 (DM1) and in the intron 1 of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy type 2 (DM2) represent typical non-coding mutations that cause the diseases mainly through transdominant effect on the RNA metabolism (splicing, translation and RNA stability). 20458885 2010
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE Myotonic dystrophy type 2 (DM2, OMIM #602688) is a multisystemic hereditary degenerative disease caused by a tetranucleotide CCTG expansion in the ZNF9 gene. 20616365 2010
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 GeneticVariation disease BEFREE Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder caused by a CCTG expansion in intron 1 of the zinc finger protein 9 gene on chromosome 3. 19345584 2009
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 AlteredExpression disease BEFREE Myotonic dystrophy 2 (DM2) is a multisystem skeletal muscle disease caused by an expansion of tetranucleotide CCTG repeats, the transcription of which results in the accumulation of untranslated CCUG RNA. 19590039 2009
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE Myotonic dystrophy Type 2 is caused by CCTG repeat expansion in the first intron in Zinc Finger Protein 9 (ZNF9) gene. 18974556 2009
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE Myotonic dystrophy type 2 (DM2) is a dominantly inherited disorder caused by a CCTG repeat expansion in intron 1 of ZNF9 gene. 19683984 2009
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE Myotonic dystrophy type 2 (DM2) is caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the ZNF9 gene on chromosome 3q21. 18057971 2008
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE Myotonic dystrophy type 2 (DM2) is caused by an unstable CCTG repeat in intron 1 of ZNF9 (zinc finger protein 9) on chromosome 3q21. 16876389 2007
Entrez Id: 7203
Gene Symbol: CCT3
CCT3
0.100 Biomarker disease BEFREE DM2 CCTG*CAGG repeats are crossover hotspots that are more prone to expansions than the DM1 CTG*CAG repeats in Escherichia coli. 16753177 2006