Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1053
Gene Symbol: CEBPE
CEBPE
0.720 Biomarker disease GENOMICS_ENGLAND CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils. 29651288 2018
Entrez Id: 1053
Gene Symbol: CEBPE
CEBPE
0.720 Biomarker disease CTD_human SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPɛ dependent mechanism. 28369034 2017
Entrez Id: 1053
Gene Symbol: CEBPE
CEBPE
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
Entrez Id: 1053
Gene Symbol: CEBPE
CEBPE
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
Entrez Id: 1053
Gene Symbol: CEBPE
CEBPE
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
Entrez Id: 1053
Gene Symbol: CEBPE
CEBPE
0.720 CausalMutation disease CLINVAR