Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9451
Gene name	Eukaryotic translation initiation factor 2 alpha kinase 3
Gene symbol	EIF2AK3
Synonyms (NCBI Gene)	PEKPERKWRS
Chromosome	2
Chromosome location	2p11.2
Summary	The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protei

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs55791823	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121908569	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908570	C>A,G	Pathogenic	Stop gained, coding sequence variant, missense variant
rs797045558	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs864621972	G>A	Pathogenic	Coding sequence variant, stop gained
rs869025178	->A	Pathogenic	Coding sequence variant, stop gained
rs1205989324	C>G,T	Likely-pathogenic	Splice donor variant
rs1558652941	TTTC>-	Pathogenic	Stop gained, coding sequence variant

160

Show/Hide all (160)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019050	hsa-miR-335-5p	Microarray	18185580
MIRT024874	hsa-miR-215-5p	Microarray	19074876
MIRT026817	hsa-miR-192-5p	Microarray	19074876
MIRT030259	hsa-miR-26b-5p	Microarray	19088304
MIRT956582	hsa-miR-1251	CLIP-seq
MIRT956583	hsa-miR-1275	CLIP-seq
MIRT956584	hsa-miR-1297	CLIP-seq
MIRT956585	hsa-miR-1305	CLIP-seq
MIRT956586	hsa-miR-142-5p	CLIP-seq
MIRT956587	hsa-miR-2113	CLIP-seq
MIRT956588	hsa-miR-218	CLIP-seq
MIRT956589	hsa-miR-224	CLIP-seq
MIRT956590	hsa-miR-2276	CLIP-seq
MIRT956591	hsa-miR-2355-3p	CLIP-seq
MIRT956592	hsa-miR-26a	CLIP-seq
MIRT956593	hsa-miR-26b	CLIP-seq
MIRT956594	hsa-miR-30a	CLIP-seq
MIRT956595	hsa-miR-30b	CLIP-seq
MIRT956596	hsa-miR-30c	CLIP-seq
MIRT956597	hsa-miR-30d	CLIP-seq
MIRT956598	hsa-miR-30e	CLIP-seq
MIRT956599	hsa-miR-3159	CLIP-seq
MIRT956600	hsa-miR-3162-5p	CLIP-seq
MIRT956601	hsa-miR-3187-3p	CLIP-seq
MIRT956602	hsa-miR-320a	CLIP-seq
MIRT956603	hsa-miR-320b	CLIP-seq
MIRT956604	hsa-miR-320c	CLIP-seq
MIRT956605	hsa-miR-320d	CLIP-seq
MIRT956606	hsa-miR-335	CLIP-seq
MIRT956607	hsa-miR-340	CLIP-seq
MIRT956608	hsa-miR-3607-3p	CLIP-seq
MIRT956609	hsa-miR-3616-3p	CLIP-seq
MIRT956610	hsa-miR-3617	CLIP-seq
MIRT956611	hsa-miR-3653	CLIP-seq
MIRT956612	hsa-miR-3675-3p	CLIP-seq
MIRT956613	hsa-miR-3909	CLIP-seq
MIRT956614	hsa-miR-4260	CLIP-seq
MIRT956615	hsa-miR-4263	CLIP-seq
MIRT956616	hsa-miR-4271	CLIP-seq
MIRT956617	hsa-miR-4328	CLIP-seq
MIRT956618	hsa-miR-4422	CLIP-seq
MIRT956619	hsa-miR-4423-3p	CLIP-seq
MIRT956620	hsa-miR-4429	CLIP-seq
MIRT956621	hsa-miR-4435	CLIP-seq
MIRT956622	hsa-miR-4453	CLIP-seq
MIRT956623	hsa-miR-4457	CLIP-seq
MIRT956624	hsa-miR-4465	CLIP-seq
MIRT956625	hsa-miR-4520a-3p	CLIP-seq
MIRT956626	hsa-miR-4520b-3p	CLIP-seq
MIRT956627	hsa-miR-4525	CLIP-seq
MIRT956628	hsa-miR-4529-3p	CLIP-seq
MIRT956629	hsa-miR-4530	CLIP-seq
MIRT956630	hsa-miR-4538	CLIP-seq
MIRT956631	hsa-miR-4665-5p	CLIP-seq
MIRT956632	hsa-miR-4676-5p	CLIP-seq
MIRT956633	hsa-miR-4686	CLIP-seq
MIRT956634	hsa-miR-4691-5p	CLIP-seq
MIRT956635	hsa-miR-4699-3p	CLIP-seq
MIRT956636	hsa-miR-4700-3p	CLIP-seq
MIRT956637	hsa-miR-4701-5p	CLIP-seq
MIRT956638	hsa-miR-4710	CLIP-seq
MIRT956639	hsa-miR-4714-3p	CLIP-seq
MIRT956640	hsa-miR-4721	CLIP-seq
MIRT956641	hsa-miR-4723-5p	CLIP-seq
MIRT956642	hsa-miR-4725-3p	CLIP-seq
MIRT956643	hsa-miR-4772-3p	CLIP-seq
MIRT956644	hsa-miR-4777-5p	CLIP-seq
MIRT956645	hsa-miR-4792	CLIP-seq
MIRT956646	hsa-miR-495	CLIP-seq
MIRT956647	hsa-miR-498	CLIP-seq
MIRT956648	hsa-miR-513b	CLIP-seq
MIRT956649	hsa-miR-518d-5p	CLIP-seq
MIRT956650	hsa-miR-519b-5p	CLIP-seq
MIRT956651	hsa-miR-519c-5p	CLIP-seq
MIRT956652	hsa-miR-520c-5p	CLIP-seq
MIRT956653	hsa-miR-522	CLIP-seq
MIRT956654	hsa-miR-526a	CLIP-seq
MIRT956655	hsa-miR-548s	CLIP-seq
MIRT956656	hsa-miR-575	CLIP-seq
MIRT956657	hsa-miR-582-5p	CLIP-seq
MIRT956658	hsa-miR-588	CLIP-seq
MIRT956659	hsa-miR-603	CLIP-seq
MIRT956660	hsa-miR-625	CLIP-seq
MIRT956661	hsa-miR-641	CLIP-seq
MIRT956662	hsa-miR-656	CLIP-seq
MIRT956663	hsa-miR-676	CLIP-seq
MIRT1983297	hsa-miR-1246	CLIP-seq
MIRT956585	hsa-miR-1305	CLIP-seq
MIRT1983298	hsa-miR-154	CLIP-seq
MIRT956591	hsa-miR-2355-3p	CLIP-seq
MIRT1983299	hsa-miR-24	CLIP-seq
MIRT956601	hsa-miR-3187-3p	CLIP-seq
MIRT956606	hsa-miR-335	CLIP-seq
MIRT956612	hsa-miR-3675-3p	CLIP-seq
MIRT1983300	hsa-miR-3686	CLIP-seq
MIRT956613	hsa-miR-3909	CLIP-seq
MIRT1983301	hsa-miR-3942-3p	CLIP-seq
MIRT1983302	hsa-miR-4267	CLIP-seq
MIRT1983303	hsa-miR-4284	CLIP-seq
MIRT1983304	hsa-miR-4313	CLIP-seq
MIRT956617	hsa-miR-4328	CLIP-seq
MIRT956621	hsa-miR-4435	CLIP-seq
MIRT956622	hsa-miR-4453	CLIP-seq
MIRT956629	hsa-miR-4530	CLIP-seq
MIRT956630	hsa-miR-4538	CLIP-seq
MIRT1983305	hsa-miR-4633-5p	CLIP-seq
MIRT956632	hsa-miR-4676-5p	CLIP-seq
MIRT956634	hsa-miR-4691-5p	CLIP-seq
MIRT1983306	hsa-miR-4694-3p	CLIP-seq
MIRT1983307	hsa-miR-4698	CLIP-seq
MIRT956637	hsa-miR-4701-5p	CLIP-seq
MIRT1983308	hsa-miR-4715-5p	CLIP-seq
MIRT956646	hsa-miR-495	CLIP-seq
MIRT956647	hsa-miR-498	CLIP-seq
MIRT956655	hsa-miR-548s	CLIP-seq
MIRT1983309	hsa-miR-571	CLIP-seq
MIRT956656	hsa-miR-575	CLIP-seq
MIRT1983310	hsa-miR-579	CLIP-seq
MIRT956658	hsa-miR-588	CLIP-seq
MIRT1983311	hsa-miR-595	CLIP-seq
MIRT956659	hsa-miR-603	CLIP-seq
MIRT1983312	hsa-miR-607	CLIP-seq
MIRT956663	hsa-miR-676	CLIP-seq
MIRT2218505	hsa-miR-1323	CLIP-seq
MIRT956586	hsa-miR-142-5p	CLIP-seq
MIRT956600	hsa-miR-3162-5p	CLIP-seq
MIRT956601	hsa-miR-3187-3p	CLIP-seq
MIRT956602	hsa-miR-320a	CLIP-seq
MIRT956603	hsa-miR-320b	CLIP-seq
MIRT956604	hsa-miR-320c	CLIP-seq
MIRT956605	hsa-miR-320d	CLIP-seq
MIRT956607	hsa-miR-340	CLIP-seq
MIRT956609	hsa-miR-3616-3p	CLIP-seq
MIRT956619	hsa-miR-4423-3p	CLIP-seq
MIRT956620	hsa-miR-4429	CLIP-seq
MIRT956621	hsa-miR-4435	CLIP-seq
MIRT956622	hsa-miR-4453	CLIP-seq
MIRT956629	hsa-miR-4530	CLIP-seq
MIRT956630	hsa-miR-4538	CLIP-seq
MIRT956632	hsa-miR-4676-5p	CLIP-seq
MIRT956637	hsa-miR-4701-5p	CLIP-seq
MIRT956638	hsa-miR-4710	CLIP-seq
MIRT956640	hsa-miR-4721	CLIP-seq
MIRT956645	hsa-miR-4792	CLIP-seq
MIRT956653	hsa-miR-522	CLIP-seq
MIRT2218506	hsa-miR-548o	CLIP-seq
MIRT956655	hsa-miR-548s	CLIP-seq
MIRT956656	hsa-miR-575	CLIP-seq
MIRT956658	hsa-miR-588	CLIP-seq
MIRT956662	hsa-miR-656	CLIP-seq
MIRT2521964	hsa-miR-1537	CLIP-seq
MIRT956587	hsa-miR-2113	CLIP-seq
MIRT956588	hsa-miR-218	CLIP-seq
MIRT956591	hsa-miR-2355-3p	CLIP-seq
MIRT956613	hsa-miR-3909	CLIP-seq
MIRT2521965	hsa-miR-451	CLIP-seq
MIRT956634	hsa-miR-4691-5p	CLIP-seq
MIRT2521966	hsa-miR-4789-5p	CLIP-seq
MIRT956657	hsa-miR-582-5p	CLIP-seq
MIRT956663	hsa-miR-676	CLIP-seq

Show/Hide all (81)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001501	Process	Skeletal system development	ISS
GO:0001503	Process	Ossification	IMP	12086964
GO:0001525	Process	Angiogenesis	IMP	22915762
GO:0002063	Process	Chondrocyte development	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	TAS	10026192
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004694	Function	Eukaryotic translation initiation factor 2alpha kinase activity	IBA
GO:0004694	Function	Eukaryotic translation initiation factor 2alpha kinase activity	IDA	10026192, 10677345, 11907036, 25925385, 31023583, 39116259
GO:0004694	Function	Eukaryotic translation initiation factor 2alpha kinase activity	IEA
GO:0004694	Function	Eukaryotic translation initiation factor 2alpha kinase activity	IMP	12086964, 25329545
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	ISS
GO:0005515	Function	Protein binding	IPI	11907036, 25393282, 26268696, 27238082
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IC	11907036
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005783	Component	Endoplasmic reticulum	TAS	12086964
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	11907036, 22013210, 22934019
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006417	Process	Regulation of translation	IEA
GO:0006446	Process	Regulation of translational initiation	IBA
GO:0006979	Process	Response to oxidative stress	IDA	36075446
GO:0006983	Process	ER overload response	IDA	10677345, 11907036
GO:0006986	Process	Response to unfolded protein	IEA
GO:0007029	Process	Endoplasmic reticulum organization	ISS
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IMP	22915762
GO:0010628	Process	Positive regulation of gene expression	IMP	22915762
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017148	Process	Negative regulation of translation	IBA
GO:0017148	Process	Negative regulation of translation	IEA
GO:0017148	Process	Negative regulation of translation	TAS	12086964
GO:0019722	Process	Calcium-mediated signaling	ISS
GO:0019899	Function	Enzyme binding	IPI	23103912
GO:0019903	Function	Protein phosphatase binding	IPI	22169477
GO:0030282	Process	Bone mineralization	ISS
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IDA	10677345, 11907036, 22169477
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	TAS	19816510
GO:0031018	Process	Endocrine pancreas development	IMP	12086964
GO:0031642	Process	Negative regulation of myelination	ISS
GO:0032055	Process	Negative regulation of translation in response to stress	IEA
GO:0032057	Process	Negative regulation of translational initiation in response to stress	TAS	10677345, 12086964
GO:0034198	Process	Cellular response to amino acid starvation	IEA
GO:0034198	Process	Cellular response to amino acid starvation	IMP	25329545
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	19061639
GO:0036491	Process	Regulation of translation initiation in response to endoplasmic reticulum stress	ISS
GO:0036499	Process	PERK-mediated unfolded protein response	IDA	33384352
GO:0036499	Process	PERK-mediated unfolded protein response	IDA	10026192, 25925385, 31023583, 39116259
GO:0036499	Process	PERK-mediated unfolded protein response	TAS	22934019
GO:0042149	Process	Cellular response to glucose starvation	IMP	22915762
GO:0042802	Function	Identical protein binding	IPI	11907036
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	15601839
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IDA	39116259
GO:0045182	Function	Translation regulator activity	ISS
GO:0045943	Process	Positive regulation of transcription by RNA polymerase I	IMP	22915762
GO:0045947	Process	Negative regulation of translational initiation	TAS	19816510
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051787	Function	Misfolded protein binding	IDA	27917829
GO:0051879	Function	Hsp90 protein binding	IEA
GO:0070417	Process	Cellular response to cold	IMP	25329545
GO:0097250	Process	Mitochondrial respirasome assembly	IDA	27545886, 31023583
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1900182	Process	Positive regulation of protein localization to nucleus	ISS
GO:1902235	Process	Regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP	23000344
GO:1990737	Process	Response to manganese-induced endoplasmic reticulum stress	IEA

MIM	HGNC	e!Ensembl
604032	3255	ENSG00000172071

Q9NZJ5

Protein name

Eukaryotic translation initiation factor 2-alpha kinase 3 (EC 2.7.11.1) (PRKR-like endoplasmic reticulum kinase) (Pancreatic eIF2-alpha kinase) (HsPEK) (Protein tyrosine kinase EIF2AK3) (EC 2.7.10.2)

Protein function

Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress, such as unfolded protein response (UPR) (PubMed:10026192, PubMed:1067

PDB

4G31 , 4G34 , 4M7I , 4X7H , 4X7J , 4X7K , 4X7L , 4X7N , 4X7O , 4YZS , 5SV7 , 7MF0 , 8EQ9 , 8EQD , 8EQE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	593 → 678	Protein kinase domain	Domain
PF00069	Pkinase	865 → 1077	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. A high level expression is seen in secretory tissues. {ECO:0000269|PubMed:10026192, ECO:0000269|PubMed:10677345}.

Sequence

MERAISPGLLVRALLLLLLLLGLAARTVAAGRARGLPAPTAEAAFGLGAAAAPTSATRVP
AAGAVAAAEVTVEDAEALPAAAGEQEPRGPEPDDETELRPRGRSLVIISTLDGRIAALDP
ENHGKKQWDLDVGSGSLVSSSLSKPEVFGNKMIIPSLDGALFQWDQDRESMETVPFTVES
LLESSYKFGDDVVLVGGKSLTTYGLSAYSGKVRYICSALGCRQWDSDEMEQEEDILLLQR
TQKTVRAVGPRSGNEKWNFSVGHFELRYIPDMETRAGFIESTFKPNENTEESKIISDVEE
QEAAIMDIVIKVSVADWKVMAFSKKGGHLEWEYQFCTPIASAWLLKDGKVIPISLFDDTS
YTSNDDVLEDEEDIVEAARGATENSVYLGMYRGQLYLQSSVRISEKFPSSPKALESVTNE
NAIIPLPTIKWKPLIHSPSRTPVLVGSDEFDKCLSNDKFSHEEYSNGALSILQYPYDNGY
YLPYYKRERNKRSTQITVRFLDNPHYNKNIRKKDPVLLLHWWKEIVATILFCIIATTFIV
RRLFHPHPHRQRKESETQCQTENKYDSVSGEANDSSWNDIKNSGYISRYLTDFEPIQCLG
RGGFGVVFEAKNKVDDCNYAIKRIRLPNRELAREKVMREVKALAKLEHPGIVRYFNAWLE
APPEKWQEKMDEIWLKDESTDWPLSSPSPMDAPSVKIRRMDPFATKEHIEIIAPSPQRSR
SFSVGISCDQTSSSESQFSPLEFSGMDHEDISESVDAAYNLQDSCLTDCDVEDGTMDGND
EGHSFELCPSEASPYVRSRERTSSSIVFEDSGCDNASSKEEPKTNRLHIGNHCANKLTAF
KPTSSKSSSEATLSISPPRPTTLSLDLTKNTTEKLQPSSPKVYLYIQMQLCRKENLKDWM
NGRCTIEERERSVCLHIFLQIAEAVEFLHSKGLMHRDLKPSNIFFTMDDVVKVGDFGLVT
AMDQDEEEQTVLTPMPAYARHTGQVGTKLYMSPEQIHGNSYSHKVDIFSLGLILFELLYP
FSTQMERVRTLTDVRNLKFPPLFTQKYPCEYVMVQDMLSPSPMERPEAINIIENAVFEDL
DFPGKTVLRQRSRSLSSSGTKHSRQSNNSHSPLPSN

Sequence length

1116

Interactions

View interactions

	KEGG		Reactome
	Mitophagy - animal Autophagy - animal Protein processing in endoplasmic reticulum Apoptosis Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Prion disease Pathways of neurodegeneration - multiple diseases Hepatitis C Measles Herpes simplex virus 1 infection Lipid and atherosclerosis		PERK regulates gene expression

258

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Menkes kinky-hair syndrome	Likely pathogenic; Pathogenic	rs2104412272	RCV001805753
Wolcott-Rallison dysplasia	Likely pathogenic; Pathogenic	rs1674549393, rs1327996297, rs2103993244, rs2104414335, rs2104387177, rs864621972, rs797045558, rs869025178, rs121908569, rs869025179, rs1558652941, rs121908570, rs754973185, rs1192258846, rs2529171218 View all (25 more)	RCV001329323 RCV001530189 RCV001530190 RCV001536019 RCV002482786 RCV000204196 RCV000193530 RCV000006232 RCV000006233 RCV000006234 RCV000006235 RCV000006236 RCV004572931 RCV003467895 RCV003467896 RCV003460018 RCV003475593 RCV003467897 RCV003467898 RCV003467899 RCV003467900 RCV003460019 RCV003467901 RCV003460020 RCV003467902 RCV003467903 RCV003467904 RCV003467905 RCV003467906 RCV003467907 RCV003467908 RCV005036930 RCV004575872 RCV004575873 RCV004575874 RCV004575875 RCV004575877 RCV004575878 RCV000503236 RCV000995765 RCV001283831

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Connective tissue disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	rs1805190, rs13045, rs750573955, rs2104414509, rs201593811, rs56094918, rs10208681, rs55791823, rs147458427, rs146949180, rs150314450, rs145427892	RCV002276715 RCV002277158 RCV002278718 RCV002278719 RCV002277335 RCV002278520 RCV002278519 RCV002278521 RCV002278523 RCV002278522 RCV002279228 RCV002279622
EIF2AK3-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs200315616, rs756618692, rs201593811, rs200171164, rs886042833, rs748516671, rs137927384, rs55791823, rs35226268, rs750053426, rs186112888, rs1674719664, rs1805190, rs1674412789, rs191277311 View all (4 more)	RCV003948823 RCV003933535 RCV003927584 RCV003898476 RCV003930095 RCV003408777 RCV003969971 RCV003922466 RCV003910309 RCV003901228 RCV003919310 RCV003939134 RCV003907254 RCV003919541 RCV003960161 RCV003977928 RCV003940826 RCV003922983 RCV003945976
Familial cancer of breast	Benign	rs4972221	RCV005919489
Monogenic diabetes	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs75385605, rs201593811, rs55791823, rs150314450, rs1057524886, rs191277311, rs539891019, rs756231274, rs766276341	RCV000664081 RCV000664082 RCV000664080 RCV000445365 RCV000445410 RCV001174434 RCV001174436 RCV001174435 RCV001174437
Thymoma	Uncertain significance	rs1291618208	RCV005913854
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs778904290	RCV005910936

Show/Hide Text Mining Associations (134)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	29676829, 36178365, 38167084
Alcoholism	Associate	36577732
Alzheimer Disease	Associate	20463975, 24252572, 30314817, 32665027
Alzheimer's disease without Neurofibrillary tangles	Associate	36563857
Aortic Aneurysm Familial Abdominal 1	Associate	37731512
Arthritis Rheumatoid	Associate	37862122
Atherosclerosis	Associate	24205197, 28081747
Bipolar Disorder	Associate	39272120
Bone Diseases Metabolic	Associate	22028037
Breast Neoplasms	Associate	18032821, 19411256, 23294542, 25590579, 27109102, 29057869, 32365111, 32672418, 35662627, 37199031, 39187325, 39304879, 39463723
Carcinogenesis	Associate	22228178, 28835697
Carcinoma Hepatocellular	Associate	19698189, 23973991, 26917416, 31523192, 32330875, 32369692, 33846370, 35389768
Carcinoma Pancreatic Ductal	Associate	30747823
Carcinoma Renal Cell	Associate	19526593, 25824786, 29515108
Carcinoma Squamous Cell	Associate	35982901
Cardiomyopathy Hypertrophic	Associate	28916354
Cardiovascular Diseases	Associate	36012132
CD59 Deficiency	Associate	35703068
Celiac Disease	Associate	35216089, 36611909
Cell Transformation Neoplastic	Associate	24846185
Colitis Ulcerative	Associate	35185383
Colonic Neoplasms	Associate	22376079
Colorectal Neoplasms	Associate	16763611, 22228178, 30653121, 31199053, 31227689, 31243264, 32034185, 32323831, 34345202, 36468513, 37291572, 37536085
COVID 19	Associate	34058265, 38038604
Death	Associate	31681304, 37153540, 37386564
Developmental Disabilities	Associate	25306193, 36106422
Diabetes Mellitus	Associate	19837917, 22028037, 25659842, 26159176, 30922274, 33498041, 34928108, 36106422
Diabetes Mellitus Permanent Neonatal	Associate	25755231, 31441606, 36106422
Diabetes Mellitus Transient Neonatal 1	Associate	19837917, 33498041
Diabetes Mellitus Type 1	Associate	30514997
Diabetes Mellitus Type 2	Associate	31638168
Disease	Associate	19526593, 30617154
Double Outlet Right Ventricle	Associate	30514997
Drug Related Side Effects and Adverse Reactions	Associate	31524237, 35231164, 37433773
Drug Related Side Effects and Adverse Reactions	Inhibit	34698427
Esophageal Squamous Cell Carcinoma	Associate	35611939
Fatty Liver	Associate	29615085
Fetal Growth Retardation	Associate	21907405
Glaucoma	Associate	38255802
Glaucoma Open Angle	Associate	33925820, 38255802
Glioblastoma	Associate	25277177, 29991528, 30572911, 31534165, 33105603, 35742966
Glioma	Associate	18281515, 36325335, 37166058
Glioma	Stimulate	37153540
Glucose Metabolism Disorders	Associate	29554103
Graves Ophthalmopathy	Associate	36465658
Growth Disorders	Associate	22028037
Hearing Loss Sensorineural	Stimulate	33170831
Heart Failure	Associate	24036084
HEM dysplasia	Associate	25659842, 33277529
Hereditary Breast and Ovarian Cancer Syndrome	Associate	19411256
Hypoxia	Associate	23294542, 33441543, 34774803
Hypoxia	Stimulate	27078027, 28423496
Hypoxia Brain	Associate	29529249
Infections	Associate	28835697, 32284364, 32369565, 38038604
Inflammation	Associate	25470819, 26040555, 30315526, 30662337, 32012706, 32295185, 35185383, 35216089, 36012132
Inflammation	Stimulate	31187548
Influenza Human	Associate	27094326
Intervertebral Disc Degeneration	Associate	33833850
Kidney Neoplasms	Associate	19526593
Leprosy	Associate	30647798
Leprosy Lepromatous	Associate	30647798
Leprosy Tuberculoid	Stimulate	30647798
Leukemia	Associate	26275811, 27320899, 32293500
Leukemia Lymphoma Adult T Cell	Associate	32369565
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	22988110
Leukemia Myeloid Acute	Associate	21233314
Lissencephaly	Associate	34928108
Liver Diseases	Associate	25306193
Liver Failure	Associate	19837917, 30922274, 32216767, 36106422
Lung Neoplasms	Associate	36521248
Lymphoma B Cell Marginal Zone	Associate	35185383
Lymphoma Non Hodgkin	Associate	36497107, 37217929
Macular Degeneration	Inhibit	35922637
Medulloblastoma	Associate	25794107
Melanoma	Associate	17245336, 18794803, 24531394, 27502501, 27977682, 27993725, 30989459, 38295313
Melanoma	Stimulate	35538545
Mesothelioma Malignant	Associate	29921948
Microcephaly	Associate	33277529
Multiple Myeloma	Associate	19755988, 22028791, 26601950, 30824741, 32878237, 36555805
Musculoskeletal Abnormalities	Associate	19837917
Myelodysplastic Syndromes	Associate	37986081
Neoplasm Metastasis	Associate	19526593, 29057869
Neoplasm Metastasis	Stimulate	26474427
Neoplasms	Associate	16452230, 17245336, 18032821, 18048883, 19458050, 19526593, 20572035, 21746806, 22915762, 23029174, 23784735, 25009009, 25530215, 25794107, 27958308 View all (12 more)
Neoplasms	Inhibit	27977682, 31395751
Neoplasms	Stimulate	31211507
Neuralgia	Associate	38041074
Neurodegenerative Diseases	Associate	20463975, 35166693
Neuroendocrine Tumors	Associate	28423496
Neurotoxicity Syndromes	Associate	20463975
Obesity	Associate	23913943
Obesity Maternal	Stimulate	30006153
Oligospermia	Associate	34001678
Oncogene Addiction	Associate	28835697
Oropharyngeal Neoplasms	Associate	28418119, 30414263, 31187548
Ossification of Posterior Longitudinal Ligament	Stimulate	24097291
Osteoarthritis	Inhibit	27435272
Osteochondrodysplasias	Associate	22028037
Osteoporosis	Associate	22028037
Osteosarcoma	Associate	26078722, 38217543
Ovarian Neoplasms	Associate	35619328
Pain	Stimulate	22875918
Pancreatic Neoplasms	Associate	25164437, 37651191
Pemphigus	Associate	31681304
Peripheral Nervous System Diseases	Associate	32388560
Pre Eclampsia	Associate	21907405
Pre Eclampsia	Stimulate	25675914
Prostatic Neoplasms	Associate	32414345
Protein Deficiency	Stimulate	27097866
Psychological Distress	Stimulate	26090483
Reperfusion Injury	Associate	34774803
Retinal Degeneration	Associate	33277529
Retinal Diseases	Associate	22956602
Retinoblastoma	Associate	34646884
Rhabdomyosarcoma	Associate	27450084
Romano Ward Syndrome	Associate	26860746
Sarcoma	Associate	28556791
Shock Septic	Associate	30922274
Sick Sinus Syndrome	Associate	25009009
Spinocerebellar Degenerations	Associate	30293566
Squamous Cell Carcinoma of Head and Neck	Associate	32756061, 34167951
Stomach Neoplasms	Associate	29587440, 37651191, 37863665
Supranuclear Palsy Progressive	Associate	21685912, 24252572, 35842134
Supranuclear Palsy Progressive	Stimulate	29986742
Tauopathies	Associate	36563857, 37200357
Thyroid Neoplasms	Associate	35748101, 36974635
Triple Negative Breast Neoplasms	Associate	25009009, 29057869
Upton Young syndrome	Associate	24531394
Urinary Incontinence Stress	Associate	30426803
Uterine Cervical Neoplasms	Associate	28358375
Vascular Calcification	Associate	32722241
Vector Borne Diseases	Associate	32197325
Vitiligo	Associate	38246583
Wolcott Rallison syndrome	Associate	19837917, 22028037, 22672868, 22991235, 25306193, 25659842, 26159176, 26860746, 30514997, 30922274, 32216767, 32321554, 33498041, 34928108, 36106422

EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3)