|
Specific granule deficiency
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils.
|
29651288 |
2018 |
|
Specific granule deficiency
|
0.720 |
Biomarker
|
disease |
CTD_human |
SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPɛ dependent mechanism.
|
28369034 |
2017 |
|
Specific granule deficiency
|
0.720 |
Biomarker
|
disease |
BEFREE |
Role of the Leucine Zipper Domain of CCAAT/ Enhancer Binding Protein-Epsilon (C/EBPε) in Neutrophil-Specific Granule Deficiency.
|
28322138 |
2016 |
|
Specific granule deficiency
|
0.720 |
Biomarker
|
disease |
BEFREE |
This review presents data implicating the functional loss of the myeloid transcription factor CCAAT/enhancer binding protein (C/EBP(epsilon)) as a causative agent in the development of SGD.
|
11753076 |
2002 |
|
Specific granule deficiency
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon.
|
10359588 |
1999 |
|
Specific granule deficiency
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
SPECIFIC GRANULE DEFICIENCY 1
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils.
|
29651288 |
2018 |
|
SPECIFIC GRANULE DEFICIENCY 1
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon.
|
10359588 |
1999 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We performed DS-ALL vs non-DS ALL case-case analyses, comparing risk allele frequencies at these and other established susceptibility loci (BMI1, PIP4K2A, and CEBPE) and found significant association with DS status for CDKN2A (OR, 1.58; Pmeta = 4.1 × 10-4).
|
31350265 |
2019 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
No associations were found between the IKZF1 SNPs (rs11978267; rs7789635), DDC SNPs (rs3779084; rs880028; rs7809758), CDKN2A SNP (rs3731217), the CEBPE SNPs (rs2239633; rs12434881) and LMO1 SNPs (rs442264; rs3794012; rs4237770) with ALL in Yemeni children.
|
28768142 |
2017 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent genome-wide association studies (GWAS) focusing on pediatric acute lymphoblastic leukemia (ALL), the most common malignancy in children younger than 15 years old, have found evidence that single-nucleotide polymorphisms (SNPs) in IKZF1 (7p12.2), ARID5B (10q21.2), CDKN2A (9p21.3), and CEBPE (14q11.2) are strongly associated to the risk of developing pediatric ALL.
|
27184773 |
2016 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The current case-control study evaluated variants in ARID5B (rs7089424, rs10821936), IKZF1 (rs4132601) and CEBPE (rs2239633) genes, which appear most significantly associated with risk of developing childhood B-lineage ALL.
|
27644650 |
2016 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This meta-analysis demonstrated that the CEBPE rs2239633 polymorphism was significantly associated with childhood ALL risk.
|
25195121 |
2015 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.
|
24564228 |
2014 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
The current study examined the promoter activity of an association signal in a 5'-upstream region of the gene encoding CCAAT/enhancer binding protein epsilon (CEBPE) identified from a recent genome-wide association study (GWAS) for complex acute lymphoblastic leukemia (ALL).
|
23719191 |
2013 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ARID5B, IKZF1, CEBPE, and BMI1-PIP4K2A variants cumulatively conferred strong predisposition to ALL, with children carrying six to eight copies of risk alleles at a ninefold (95% confidence interval = 6.9 to 11.8) higher ALL risk relative to those carrying zero to one risk allele at these four single nucleotide polymorphisms.
|
23512250 |
2013 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Association of three polymorphisms in ARID5B, IKZF1 and CEBPE with the risk of childhood acute lymphoblastic leukemia in a Chinese population.
|
23608171 |
2013 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent genome-wide association studies for childhood acute lymphoblastic leukemia (ALL) have identified susceptibility loci at IKZF1, ARID5B, and CEBPE.
|
22422485 |
2013 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.400 |
Biomarker
|
disease |
CTD_human |
We identified risk loci for ALL at 7p12.2 (IKZF1, rs4132601, odds ratio (OR) = 1.69, P = 1.20 x 10(-19)), 10q21.2 (ARID5B, rs7089424, OR = 1.65, P = 6.69 x 10(-19)) and 14q11.2 (CEBPE, rs2239633, OR = 1.34, P = 2.88 x 10(-7)).
|
19684604 |
2009 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified risk loci for ALL at 7p12.2 (IKZF1, rs4132601, odds ratio (OR) = 1.69, P = 1.20 x 10(-19)), 10q21.2 (ARID5B, rs7089424, OR = 1.65, P = 6.69 x 10(-19)) and 14q11.2 (CEBPE, rs2239633, OR = 1.34, P = 2.88 x 10(-7)).
|
19684604 |
2009 |
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
The minor allele of the CEBPE variant associated with lower basophil count has been previously associated with Amerindian ancestry and higher risk of acute lymphoblastic leukemia in Hispanics.
|
28158719 |
2017 |
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Association of Genetic Variants in ARID5B, IKZF1 and CEBPE with Risk of Childhood de novo B-Lineage Acute Lymphoblastic Leukemia in India.
|
27644650 |
2016 |
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
0.350 |
Biomarker
|
disease |
BEFREE |
Association of genetic variation in IKZF1, ARID5B, CDKN2A, and CEBPE with the risk of acute lymphoblastic leukemia in Tunisian children and their contribution to racial differences in leukemia incidence.
|
27184773 |
2016 |
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
0.350 |
Biomarker
|
disease |
BEFREE |
Association of genetic variation in IKZF1, ARID5B, and CEBPE and surrogates for early-life infections with the risk of acute lymphoblastic leukemia in Hispanic children.
|
25761407 |
2015 |
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
0.350 |
Biomarker
|
disease |
CTD_human |
Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia.
|
19684604 |
2009 |