Preferred Name

CCAAT/ENHANCER-BINDING PROTEIN, EPSILON

Synonyms

CRP1

ID

http://purl.bioontology.org/ontology/OMIM/600749

altLabel

CRP1

C/EBP-EPSILON

CEBPE

SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT

SPECIFIC GRANULE DEFICIENCY 1

IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION

cui

C4551556

C1332750

C5774333

C1850054

Gene Locus

14q11.2

Gene Symbol

CRP1

CEBPE

SGD1

IMD108

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/600749.0005

http://purl.bioontology.org/ontology/OMIM/600749.0004

http://purl.bioontology.org/ontology/OMIM/600749.0006

http://purl.bioontology.org/ontology/OMIM/600749.0007

http://purl.bioontology.org/ontology/OMIM/600749.0001

http://purl.bioontology.org/ontology/OMIM/600749.0002

http://purl.bioontology.org/ontology/OMIM/600749.0003

MIMTYPEMEANING

Gene with known sequence

notation

600749

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

CCAAT/ENHANCER-BINDING PROTEIN, EPSILON

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/PR_000005310 Protein Ontology / 蛋白质本体 LOOM
http://purl.obolibrary.org/obo/PR_000005310 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/PR_000005310 Cell Ontology / 细胞本体 LOOM
http://www.orpha.net/ORDO/Orphanet_183890 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C564899 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17900 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM