|
Malignant neoplasm of breast
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
We identified four independent SNPs associated with BC risk, BIVM-ERCC5 rs1323697_C (OR = 1.06, 95% CI = 1.03-1.10), GTF2H4 rs1264308_T (OR = 0.93, 95% CI = 0.89-0.97), COPS2 rs141308737_C deletion (OR = 1.06, 95% CI = 1.03-1.09) and ELL rs1469412_C (OR = 0.93, 95% CI = 0.90-0.96).
|
31026346 |
2019 |
|
Breast Carcinoma
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
We identified four independent SNPs associated with BC risk, BIVM-ERCC5 rs1323697_C (OR = 1.06, 95% CI = 1.03-1.10), GTF2H4 rs1264308_T (OR = 0.93, 95% CI = 0.89-0.97), COPS2 rs141308737_C deletion (OR = 1.06, 95% CI = 1.03-1.09) and ELL rs1469412_C (OR = 0.93, 95% CI = 0.90-0.96).
|
31026346 |
2019 |
|
Breast Carcinoma
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Association analysis identifies 65 new breast cancer risk loci.
|
29059683 |
2017 |
|
Breast Carcinoma
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
|
25751625 |
2015 |
|
Malignant neoplasm of breast
|
0.110 |
GeneticVariation
|
disease |
GWASDB |
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
|
23535729 |
2013 |
|
Breast Carcinoma
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
|
23535729 |
2013 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, this is a pediatric case of AML presenting a novel complex t(11;16;19) variant with overexpression of ELL and MLLT1.
|
30974445 |
2019 |
|
Coronary Artery Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
|
29212778 |
2018 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report the case of a 10-year-old female with acute myeloid leukemia (AML) FAB M0 carrying a novel t(11;19)(q23;p13.1) MLL-ELL variant, in which intron 8 of MLL is fused to exon 6 of ELL.
|
28669059 |
2017 |
|
Corpuscular Hemoglobin Concentration Mean
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the present study, we retrospectively investigated the efficacy of allo-HSCT in eight adult MLL-ELL-positive AML patients.
|
25758097 |
2015 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ELL (eleven-nineteen lysine-rich leukemia protein) was first identified as a translocation partner of MLL in acute myeloid leukemia; however, the exact mechanism of its action has remained elusive.
|
24344198 |
2014 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MLL has been fused to ELL exon 2 in all the previously reported MLL-ELL transcripts, which have always been associated with AML.
|
18617060 |
2008 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
U19/Eaf2 interacts with ELL, a fusion partner of MLL in the (11;19) (q23;p13.1) translocation in acute myeloid leukemia.
|
17044034 |
2007 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
[Application of reverse transcription-multiplex nested PCR to detect MLL rearrangement in AML-M4/M5].
|
16086288 |
2005 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Remarkably, the ELL translocation that is found in patients with AML results in the deletion of exactly this functional domain.
|
10419521 |
1999 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data suggest that the majority of 11;19 translocations involve ENL, whereas involvement of ELL is relatively uncommon in childhood acute leukemia and may be restricted to AML.
|
8639852 |
1996 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
Biomarker
|
disease |
BEFREE |
The human ELL gene on chromosome 19 undergoes frequent translocations with the trithorax-like MLL gene on chromosome 11 in acute myeloid leukemias.
|
8596958 |
1996 |
|
Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
ELL targets c-Myc for proteasomal degradation and suppresses tumour growth.
|
27009366 |
2016 |
|
Neoplasms
|
0.030 |
AlteredExpression
|
group |
BEFREE |
ELL-associated factor 2 (EAF2) is an androgen-responsive tumor suppressor frequently deleted in advanced prostate cancer that functions as a transcription elongation factor of RNA Pol II through interaction with the ELL family proteins.
|
24260246 |
2013 |
|
leukemia
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
AFF4, a component of the ELL/P-TEFb elongation complex and a shared subunit of MLL chimeras, can link transcription elongation to leukemia.
|
20159561 |
2010 |
|
Childhood Leukemia
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
AFF4, a component of the ELL/P-TEFb elongation complex and a shared subunit of MLL chimeras, can link transcription elongation to leukemia.
|
20159561 |
2010 |
|
leukemia
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Strikingly, CBs are disrupted in MLL-ELL leukemia.
|
12686606 |
2003 |