|
Alzheimer's Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
A number of genetic variants have previously been identified and associated with the risk of Alzheimer's disease (AD), including rs10838725 in CELF1, rs28834970 in PTK2B, rs17125944 in FERMT2, and rs10410544 in SIRT2 based on genome-wide association studies.
|
30144538 |
2018 |
|
Alzheimer's Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
The minor allele of rs1057233 (G), within the previously reported CELF1 AD risk locus, showed association with delayed AD onset and lower expression of SPI1 in monocytes and macrophages.
|
28628103 |
2017 |
|
Alzheimer's Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies and meta-analyses implicated that increased risk of developing Alzheimer's diseases (AD) has been associated with the ABCA7, APOE, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB1, HLA-DRB4, INPP5D, MEF2C, MS4A4A, MS4A4E, MS4A6E, NME8, PICALM, PLD3, PTK2B, RIN3, SLC24A4, SORL1, and ZCWPW1 genes.
|
28199971 |
2017 |
|
Alzheimer's Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci.
|
26919393 |
2016 |
|
Alzheimer's Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Our first GWAS based cross-disorder analysis for AD and obesity suggests that rs10838725 at the locus CELF1 might be relevant for both disorders.
|
24788522 |
2014 |
|
Alzheimer's Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Importantly, we also identify the fly orthologs of FERMT2 and CELF1 as Tau modifiers, and these loci have been independently validated as AD susceptibility loci in the latest GWAS meta-analysis.
|
24067533 |
2014 |
|
Alzheimer's Disease
|
0.160 |
GeneticVariation
|
disease |
GWASDB |
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
|
24162737 |
2013 |
|
Alzheimer's Disease
|
0.160 |
GeneticVariation
|
disease |
GWASCAT |
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
|
24162737 |
2013 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mir-206 partially rescues myogenesis deficiency by inhibiting CUGBP1 accumulation in the cell models of myotonic dystrophy.
|
30281408 |
2019 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Age at menarche
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Bone Density
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.
|
29304378 |
2018 |
|
Glomerular Filtration Rate
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
|
Myotonic Dystrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Steinert disease, or myotonic dystrophy type 1 (DM1), is a multisystemic disorder caused by toxic noncoding CUG repeat transcripts, leading to altered levels of two RNA binding factors, MBNL1 and CELF1.
|
29716962 |
2018 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
|
30108127 |
2018 |
|
Serum total cholesterol measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
|
30275531 |
2018 |
|
Myotonic Dystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, increased CELF1 level accompanied upregulated RRP6, and reduced Cx43 level was detected in mouse models with DCM, including myotonic dystrophy type 1 and CELF1 overexpression models and a myocardial infarction model.
|
28874395 |
2017 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
|
28552196 |
2017 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
|
28448500 |
2017 |
|
Physical Activity Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
|
28448500 |
2017 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
We sequenced DMPK and CNBP - associated with DM, as well as CELF1 (CUGBP, Elav-like family member 1) and MBNL1 (muscleblind-like splicing regulator 1) - associated with the pathomechanism of DM, for pathogenic variants, addressing the question whether defects in other genes could cause a DM-like phenotype.
|
27222292 |
2016 |
|
Reticulocyte count (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Myotonic Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
RNA binding proteins of the conserved CUGBP1, Elav-like factor (CELF) family contribute to heart and skeletal muscle development and are implicated in myotonic dystrophy (DM).
|
25883322 |
2015 |