Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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27102
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Eukaryotic translation initiation factor 2 alpha kinase 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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EIF2AK1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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HCR, HRI, LEMSPAD, hHRI |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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LEMSPAD |
Chromosome
Chromosome number
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7 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7p22.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms hav |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Anemia |
Anemia, Hemolytic, Anemia, Hemolytic, Acquired, Anemia, Microangiopathic |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 View all (89 more) |
25411909 |
Lung adenocarcinoma |
Adenocarcinoma of lung (disorder) |
rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 View all (5 more) |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Myocardial infarction |
Myocardial Infarction |
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21211798 |
ClinVar |
Leukoencephalopathy |
leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome |
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GenCC |
Oligodendroglioma |
Oligodendroglioma |
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GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Breast Neoplasms |
Associate
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18559534 |
Cognition Disorders |
Associate
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32197074 |
Developmental Disabilities |
Associate
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32197074 |
Dyskinesias |
Associate
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32197074 |
Glioma |
Associate
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23577178 |
Heart Failure |
Associate
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32197074 |
Hemoglobinopathies |
Associate
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30026227 |
Language Disorders |
Associate
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32197074 |
Leukodystrophy Metachromatic |
Associate
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32197074 |
Leukoencephalopathies |
Associate
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32197074 |
Mitochondrial Diseases |
Associate
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32132707, 33483422 |
Multiple Myeloma |
Associate
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28119225 |
Muscle Hypertonia |
Associate
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32197074 |
Pancreatic Neoplasms |
Associate
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29720726 |
Vanishing White Matter Leukodystrophy with Ovarian Failure |
Associate
|
32197074 |
|