Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	NONHOMOLOGOUS END-JOINING FACTOR 1
Synonyms	SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION
ID	http://purl.bioontology.org/ontology/OMIM/611290
altLabel	SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION XRCC4-LIKE FACTOR NEJ1, S. CEREVISIAE, HOMOLOG OF SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY NHEJ1 CERNUNNOS XLF
cui	C1969799 C1826402
Gene Locus	2q35
Gene Symbol	XLF NHEJ1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/611290.0004 http://purl.bioontology.org/ontology/OMIM/611290.0005 http://purl.bioontology.org/ontology/OMIM/611290.0002 http://purl.bioontology.org/ontology/OMIM/611290.0001 http://purl.bioontology.org/ontology/OMIM/611290.0003
MIMTYPEMEANING	Gene with known sequence
notation	611290
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	NONHOMOLOGOUS END-JOINING FACTOR 1
tui	T028 T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/PR_000011199	Protein Ontology	LOOM
http://purl.bioontology.org/ontology/MESH/C566970	Medical Subject Headings	CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C88515	National Cancer Institute Thesaurus	LOOM