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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/OMIM/176871
http://purl.bioontology.org/ontology/OMIM/176871
|
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Preferred Name | EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 2 |
Synonyms |
PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
p68 KINASE
EIF2AK2
PKR
DYSTONIA 33
PRKR
|
Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
p68 KINASE
EIF2AK2
PKR
DYSTONIA 33
PRKR
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|
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prefLabel | EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 2
|
Gene Symbol |
EIF2AK2
PRKR
DYT33
LEUDEN
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notation | 176871
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Has allelic variant |
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OMIM MimType Value | star
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Semantic type UMLS property | |
OMIM Entry Type | 1
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type | |
MIMTYPEMEANING | Gene with known sequence
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Gene Locus | 2p21
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Phenotype of |
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tui |
T047
T028
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cui |
C5562054
C5394367
C1539341
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