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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Menkes kinky-hair syndrome	Likely pathogenic; Pathogenic	rs2104412272	RCV001805753	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (36 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EIF2AK3-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE SUPRANUCLEAR PALSY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIALOLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLCOTT-RALLISON SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (225)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	29731995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	28004277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	20463975, 24252572, 30314817, 32665027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30923003		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31395860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37862122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27383524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	24205197, 28081747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	39272120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	22028037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22982536, 27109102, 29053414, 29057869, 31312024		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	18032821, 19411256, 23294542, 25590579, 27109102, 29057869, 32365111, 32672418, 35662627, 37199031, 39187325, 39304879, 39463723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22228178, 28835697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19698189, 23973991, 26917416, 31523192, 32330875, 32369692, 33846370, 35389768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25728791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	30747823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19526593, 25824786, 29515108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35982901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	28916354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36012132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	35216089, 36611909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28644439, 31683519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28347799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	35185383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27078027, 28749466, 30824833, 31227689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	22376079	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31243264, 31387675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16763611, 22228178, 30653121, 31199053, 31227689, 31243264, 32034185, 32323831, 34345202, 36468513, 37291572, 37536085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	16492139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of pancreas	Pancreatic hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27483435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	23105139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31223428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25306193, 36106422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12086964, 15220213, 17141632, 19837917, 19952737, 20530744, 21648287, 24985580, 25659842, 26159176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12086964, 15220213, 17141632, 19837917, 19952737, 20530744, 21648287, 24985580, 25659842, 26159176, 30922274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19837917, 22028037, 25659842, 26159176, 30922274, 33498041, 34928108, 36106422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Permanent Neonatal	Neonatal diabetes mellitus	Pubtator	25755231, 31441606, 36106422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	19837917, 33498041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30514997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31638168	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15483661, 26611106, 29139617		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30615948		★★★★★ ★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	BEFREE	22859427, 23759358, 24168455, 24194294, 25755231, 28156240, 28843469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30034224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	30514997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	29439332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35611939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	11146649, 23933749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	19468685, 31271806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	29615085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	26450683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	29769338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	38255802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	33925820, 38255802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25277177, 29991528, 30572911, 31534165, 33105603, 35742966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31534165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31534165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18281515, 36325335, 37166058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37153540	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29139617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	16492139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	36465658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	22028037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	33170831	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	24036084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	19411256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28916354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	18500571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	BEFREE	24194294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	30173778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23294542, 33441543, 34774803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27078027, 28423496	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30889246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	33833850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28178380, 31309426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	31672843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	26050121, 30528975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	19526593	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	30647798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	30647798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26275811, 27320899, 32293500	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21233314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	34928108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25598862, 28915706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	25306193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	19837917, 30922274, 32216767, 36106422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	29139617, 30922274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome 1	Long QT Syndrome	BEFREE	10932183, 12086964, 15220213, 18500571, 19837917, 21050479, 21648287, 22672868, 22991235, 23585173, 23759358, 24168455, 24859506, 25659842, 28156240, 28843469, 30922274 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36521248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	25516752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	25516752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25516752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	25516752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	35922637	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27109102, 29053414, 29057869, 31312024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25728791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	31145545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20038797, 29057869, 29230015, 29592897, 31312024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	31145545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27078027, 28749466, 30824833, 31227689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	29718201, 31701543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	31638168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	25794107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17245336, 18794803, 24531394, 27502501, 27977682, 27993725, 30989459, 38295313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27977682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35538545	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory dysfunction	Memory Disorders	BEFREE	23933749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	29921948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30635917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31543404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	33277529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	31265863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	30923003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19755988, 22028791, 26601950, 30824741, 32878237, 36555805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29436030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	37986081	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	19041636		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	15483661, 17141632, 20530744, 20546293, 23759358, 24168455, 25755231, 28156240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25203443, 27977682, 30713500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26546554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20463975, 35166693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26450683, 27021956, 28643372, 29476642, 29718201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30635917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	16492139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28672279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	21709020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23913943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia, Progressive Supranuclear	Progressive supranuclear ophthalmoplegia	CTD_human_DG	21685912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	31282845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	28418119, 30414263, 31187548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	BEFREE	24097291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27435272	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	31316574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	22028037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	25659842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	29432813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	22028037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26078722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	26078722, 38217543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35619328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25164437, 37651191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	31681304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	31681304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	30173778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	32388560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	16492139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	26450683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28391375, 29843020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	CTD_human_DG	21685912		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive supranuclear palsy	Progressive Supranuclear Palsy	GWASDB_DG	21685912		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive supranuclear palsy	Progressive Supranuclear Palsy	GWASCAT_DG	21685912		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	24252572		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32414345	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	20527020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28347799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27483435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	33277529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	22956602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29036441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	29036441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	34646884	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	27450084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	28556791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	25009009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	25659842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32756061, 34167951	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29731995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	30414263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	16492139		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	16492139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	19468685, 31271806, 31324878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29587440, 37651191, 37863665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	21685912, 24252572, 35842134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	29986742	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy, Progressive, 1	Supranuclear Palsy	CTD_human_DG	21685912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	26450683, 28643372, 28804008, 30137327, 31570707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	BEFREE	24194294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	35748101, 36974635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient neonatal diabetes mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	15384883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25009009, 29057869	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29053414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Incontinence Stress	Stress urinary incontinence	Pubtator	30426803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28358375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	32722241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	38246583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolcott-Rallison syndrome	Wolcott-Rallison Syndrome	BEFREE	10932183, 15384883, 15483661, 16813601, 17141632, 19837917, 20202148, 20530744, 21518408, 21648287, 22672868, 23585173, 23644647, 23759358, 24168455 View all (7 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolcott-Rallison syndrome	Wolcott-Rallison Syndrome	UNIPROT_DG	10932183		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolcott-Rallison syndrome	Wolcott-Rallison Syndrome	GENOMICS_ENGLAND_DG	19837917, 7551159		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolcott-Rallison syndrome	Wolcott-Rallison Syndrome	ORPHANET_DG	21050479		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolcott-Rallison syndrome	Wolcott-Rallison Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolcott-Rallison syndrome	Wolcott-Rallison Syndrome	CLINVAR_DG	26380986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolcott-Rallison syndrome	Wolcott-Rallison Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3)