Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5
Synonyms	EIF2B5 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5, ADULT-ONSET LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, EPSILON EIF2B-EPSILON
ID	http://purl.bioontology.org/ontology/OMIM/603945
altLabel	EIF2B5 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5, ADULT-ONSET LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, EPSILON EIF2B-EPSILON
cui	C5779973 C5830714 C1414331
Gene Locus	3q27
Gene Symbol	CACH EIF2B5 CLE VWM5
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/603945.0012 http://purl.bioontology.org/ontology/OMIM/603945.0010 http://purl.bioontology.org/ontology/OMIM/603945.0011 http://purl.bioontology.org/ontology/OMIM/603945.0006 http://purl.bioontology.org/ontology/OMIM/603945.0005 http://purl.bioontology.org/ontology/OMIM/603945.0003 http://purl.bioontology.org/ontology/OMIM/603945.0009 http://purl.bioontology.org/ontology/OMIM/603945.0001 http://purl.bioontology.org/ontology/OMIM/603945.0007 http://purl.bioontology.org/ontology/OMIM/603945.0004 http://purl.bioontology.org/ontology/OMIM/603945.0008 http://purl.bioontology.org/ontology/OMIM/603945.0002
MIMTYPEMEANING	Gene with known sequence
notation	603945
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5
tui	T047 T028

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D056784	MESH	CUI