CEBPA, CCAAT enhancer binding protein alpha, 1050

N. diseases: 201; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931590
rs28931590
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT Acute myeloblastic leukaemias in adult patients: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. 23970018 2013
dbSNP: rs28931590
rs28931590
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 22138009 2011
dbSNP: rs28931590
rs28931590
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT Mutation of CEBPA in familial acute myeloid leukemia. 15575056 2004
dbSNP: rs28931590
rs28931590
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2. 12661007 2003
dbSNP: rs28931590
rs28931590
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.800 GeneticVariation UNIPROT Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. 11242107 2001
dbSNP: rs28931590
rs28931590
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.800 CausalMutation CLINVAR
dbSNP: rs41355649
rs41355649
Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA
CUI: C0005612
Disease:
Birth Weight
G 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs1060502121
rs1060502121
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation CLINVAR
dbSNP: rs121912791
rs121912791
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 CausalMutation CLINVAR
dbSNP: rs137852728
rs137852728
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 CausalMutation CLINVAR
dbSNP: rs137852728
rs137852728
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
CG 0.700 CausalMutation CLINVAR
dbSNP: rs137852730
rs137852730
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 CausalMutation CLINVAR
dbSNP: rs137852731
rs137852731
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
TGTAG 0.700 CausalMutation CLINVAR
dbSNP: rs137852732
rs137852732
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
TCA 0.700 CausalMutation CLINVAR
dbSNP: rs137852733
rs137852733
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
AG 0.700 CausalMutation CLINVAR
dbSNP: rs1555741948
rs1555741948
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
AGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCT 0.700 CausalMutation CLINVAR
dbSNP: rs1555741967
rs1555741967
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
TCAGCTCCAGCACCTTCTGCTGCGTCTC 0.700 CausalMutation CLINVAR
dbSNP: rs1555742213
rs1555742213
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 CausalMutation CLINVAR
dbSNP: rs1555742295
rs1555742295
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
CG 0.700 CausalMutation CLINVAR
dbSNP: rs587776848
rs587776848
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 CausalMutation CLINVAR
dbSNP: rs587776849
rs587776849
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
GCGGC 0.700 CausalMutation CLINVAR
dbSNP: rs34529039
rs34529039
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE The rs34529039 SNP did not affect the risk of developing ova</span>rian cancer. 27602952 2016
dbSNP: rs34529039
rs34529039
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0919267
Disease:
ovarian neoplasm
0.010 GeneticVariation BEFREE The rs34529039 SNP did not affect the risk of developing ova</span>rian cancer. 27602952 2016
dbSNP: rs34529039
rs34529039
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C1140680
Disease:
Malignant neoplasm of ovary
0.010 GeneticVariation BEFREE The rs34529039 SNP did not affect the risk of developing ova</span>rian cancer. 27602952 2016
dbSNP: rs1189516787
rs1189516787
Entrez Id: 1050;80054
Gene Symbol: CEBPA;CEBPA-DT
CEBPA;CEBPA-DT
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE The luciferase assays further showed that there was a point mutation (A231G) in the C/EBPα binding site of the lncRNA-UCA1 core promoter in various bladder cancer cell lines, which in turn significantly increased the transcriptional activity of lncRNA-UCA1. 24648007 2014