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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2081
Gene name	Endoplasmic reticulum to nucleus signaling 1
Gene symbol	ERN1
Synonyms (NCBI Gene)	IRE1IRE1PIRE1ahIRE1p
Chromosome	17
Chromosome location	17q23.3
Summary	This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of u

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miRTarBase ID	miRNA	Experiments	Reference
MIRT052484	hsa-let-7a-5p	CLASH	23622248
MIRT053104	hsa-miR-199a-5p	Luciferase reporter assayqRT-PCRWestern blot	23598416
MIRT053105	hsa-miR-1291	GFP reporter assay	23598528
MIRT053105	hsa-miR-1291	GFP reporter assay	23598528
MIRT703869	hsa-miR-3173-3p	HITS-CLIP	23313552
MIRT703868	hsa-miR-6891-5p	HITS-CLIP	23313552
MIRT703867	hsa-miR-302f	HITS-CLIP	23313552
MIRT703866	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT703865	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT703864	hsa-miR-940	HITS-CLIP	23313552
MIRT703863	hsa-miR-3929	HITS-CLIP	23313552
MIRT703862	hsa-miR-4419b	HITS-CLIP	23313552
MIRT703861	hsa-miR-4478	HITS-CLIP	23313552
MIRT703860	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT703859	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT703858	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT441507	hsa-miR-219b-3p	HITS-CLIP	23313552
MIRT703857	hsa-miR-1827	HITS-CLIP	23313552
MIRT703856	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT703855	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT703854	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT703853	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT703852	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT703851	hsa-miR-1273e	HITS-CLIP	23313552
MIRT703850	hsa-miR-665	HITS-CLIP	23313552
MIRT615329	hsa-miR-4310	HITS-CLIP	23824327
MIRT615328	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615327	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT615326	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT615325	hsa-miR-5193	HITS-CLIP	23824327
MIRT615324	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT615323	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615329	hsa-miR-4310	HITS-CLIP	23824327
MIRT615328	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615327	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT615326	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT615325	hsa-miR-5193	HITS-CLIP	23824327
MIRT615324	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT615323	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT526817	hsa-miR-490-3p	PAR-CLIP	22012620
MIRT526816	hsa-miR-649	PAR-CLIP	22012620
MIRT526814	hsa-miR-4539	PAR-CLIP	22012620
MIRT526815	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT441510	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT441509	hsa-miR-451b	PAR-CLIP	22100165
MIRT441508	hsa-miR-1184	PAR-CLIP	22100165
MIRT441507	hsa-miR-219b-3p	PAR-CLIP	22100165
MIRT441506	hsa-miR-103a-3p	PAR-CLIP	22100165
MIRT441505	hsa-miR-107	PAR-CLIP	22100165
MIRT441504	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT703863	hsa-miR-3929	PAR-CLIP	27292025
MIRT703862	hsa-miR-4419b	PAR-CLIP	27292025
MIRT703861	hsa-miR-4478	PAR-CLIP	27292025
MIRT703869	hsa-miR-3173-3p	HITS-CLIP	23313552
MIRT703868	hsa-miR-6891-5p	HITS-CLIP	23313552
MIRT703867	hsa-miR-302f	HITS-CLIP	23313552
MIRT703866	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT703865	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT703864	hsa-miR-940	HITS-CLIP	23313552
MIRT703863	hsa-miR-3929	HITS-CLIP	23313552
MIRT703862	hsa-miR-4419b	HITS-CLIP	23313552
MIRT703861	hsa-miR-4478	HITS-CLIP	23313552
MIRT703860	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT703859	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT703858	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT441507	hsa-miR-219b-3p	HITS-CLIP	23313552
MIRT703857	hsa-miR-1827	HITS-CLIP	23313552
MIRT703856	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT703855	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT703854	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT703853	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT703852	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT703851	hsa-miR-1273e	HITS-CLIP	23313552
MIRT703850	hsa-miR-665	HITS-CLIP	23313552
MIRT615329	hsa-miR-4310	HITS-CLIP	23824327
MIRT615328	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615327	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT615326	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT615325	hsa-miR-5193	HITS-CLIP	23824327
MIRT615324	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT615323	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615329	hsa-miR-4310	HITS-CLIP	23824327
MIRT615328	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615327	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT615326	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT615325	hsa-miR-5193	HITS-CLIP	23824327
MIRT615324	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT615323	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT526817	hsa-miR-490-3p	PAR-CLIP	22012620
MIRT526816	hsa-miR-649	PAR-CLIP	22012620
MIRT526814	hsa-miR-4539	PAR-CLIP	22012620
MIRT526815	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT441510	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT441509	hsa-miR-451b	PAR-CLIP	22100165
MIRT441508	hsa-miR-1184	PAR-CLIP	22100165
MIRT441507	hsa-miR-219b-3p	PAR-CLIP	22100165
MIRT441506	hsa-miR-103a-3p	PAR-CLIP	22100165
MIRT441505	hsa-miR-107	PAR-CLIP	22100165
MIRT441504	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT969644	hsa-miR-1587	CLIP-seq
MIRT969645	hsa-miR-2278	CLIP-seq
MIRT969646	hsa-miR-2467-3p	CLIP-seq
MIRT969647	hsa-miR-3122	CLIP-seq
MIRT969648	hsa-miR-3158-5p	CLIP-seq
MIRT969649	hsa-miR-3614-5p	CLIP-seq
MIRT969650	hsa-miR-3663-5p	CLIP-seq
MIRT969651	hsa-miR-3678-3p	CLIP-seq
MIRT969652	hsa-miR-3909	CLIP-seq
MIRT969653	hsa-miR-3913-5p	CLIP-seq
MIRT969654	hsa-miR-4265	CLIP-seq
MIRT969655	hsa-miR-4296	CLIP-seq
MIRT969656	hsa-miR-4322	CLIP-seq
MIRT969657	hsa-miR-4417	CLIP-seq
MIRT969658	hsa-miR-4492	CLIP-seq
MIRT969659	hsa-miR-4498	CLIP-seq
MIRT969660	hsa-miR-4656	CLIP-seq
MIRT969661	hsa-miR-4675	CLIP-seq
MIRT969662	hsa-miR-4741	CLIP-seq
MIRT969663	hsa-miR-4747-5p	CLIP-seq
MIRT969664	hsa-miR-671-5p	CLIP-seq
MIRT969665	hsa-miR-762	CLIP-seq
MIRT1987436	hsa-miR-3166	CLIP-seq
MIRT1987437	hsa-miR-4731-5p	CLIP-seq
MIRT2221817	hsa-miR-1224-3p	CLIP-seq
MIRT1987436	hsa-miR-3166	CLIP-seq
MIRT2221818	hsa-miR-342-5p	CLIP-seq
MIRT2221819	hsa-miR-3652	CLIP-seq
MIRT2221820	hsa-miR-4430	CLIP-seq
MIRT2221821	hsa-miR-4505	CLIP-seq
MIRT2221822	hsa-miR-4664-5p	CLIP-seq
MIRT1987437	hsa-miR-4731-5p	CLIP-seq
MIRT2221823	hsa-miR-4771	CLIP-seq
MIRT2221824	hsa-miR-637	CLIP-seq

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Transcription factor	Regulation	Reference
XBP1	Unknown	20513357

Show/Hide all (86)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	9637683
GO:0000287	Function	Magnesium ion binding	IEA
GO:0001935	Process	Endothelial cell proliferation	IDA	23529610
GO:0003824	Function	Catalytic activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004521	Function	RNA endonuclease activity	IBA
GO:0004521	Function	RNA endonuclease activity	IDA	9637683, 11779465, 19328063, 20625543, 21317875
GO:0004521	Function	RNA endonuclease activity	IEA
GO:0004540	Function	RNA nuclease activity	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	9637683, 21317875
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005161	Function	Platelet-derived growth factor receptor binding	IPI	26315405
GO:0005515	Function	Protein binding	IPI	11278723, 15234121, 18369366, 19135427, 19328063, 20103773, 23529610, 25241761, 25742138, 26551274, 27238082, 28128204, 32814053
GO:0005524	Function	ATP binding	IDA	9637683
GO:0005524	Function	ATP binding	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005737	Component	Cytoplasm	IDA	19622636
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	23529610
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	9637683
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0006401	Process	RNA catabolic process	IEA
GO:0006402	Process	MRNA catabolic process	TAS	22013210
GO:0006468	Process	Protein phosphorylation	IDA	9637683
GO:0006915	Process	Apoptotic process	IEA
GO:0006986	Process	Response to unfolded protein	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	TAS	22013210
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019899	Function	Enzyme binding	IPI	23103912
GO:0030544	Function	Hsp70 protein binding	IPI	20625543
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IDA	20625543
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033120	Process	Positive regulation of RNA splicing	IDA	11779464, 19622636
GO:0033120	Process	Positive regulation of RNA splicing	IEA
GO:0034620	Process	Cellular response to unfolded protein	IDA	19328063
GO:0034620	Process	Cellular response to unfolded protein	IMP	20625543, 21317875
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	10650002
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IDA	23529610
GO:0036498	Process	IRE1-mediated unfolded protein response	IBA
GO:0036498	Process	IRE1-mediated unfolded protein response	IDA	9637683, 11779465, 19328063, 29198525
GO:0036498	Process	IRE1-mediated unfolded protein response	IEA
GO:0036498	Process	IRE1-mediated unfolded protein response	IMP	28128204
GO:0036498	Process	IRE1-mediated unfolded protein response	TAS	22013210
GO:0042802	Function	Identical protein binding	IPI	12637535, 16973740, 20798350, 21317875
GO:0042803	Function	Protein homodimerization activity	IDA	29198525
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	21317875
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043531	Function	ADP binding	IDA	21317875
GO:0046330	Process	Positive regulation of JNK cascade	IDA	10650002
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051082	Function	Unfolded protein binding	IBA
GO:0051879	Function	Hsp90 protein binding	IDA	12446770
GO:0070054	Process	MRNA splicing, via endonucleolytic cleavage and ligation	IDA	11779464, 19328063, 19622636, 21317875
GO:0070054	Process	MRNA splicing, via endonucleolytic cleavage and ligation	IMP	20625543, 21317875
GO:0070054	Process	MRNA splicing, via endonucleolytic cleavage and ligation	TAS	22013210
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IBA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IDA	20103773
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1900103	Process	Positive regulation of endoplasmic reticulum unfolded protein response	IMP	28128204
GO:1901142	Process	Insulin metabolic process	IDA	20103773
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IMP	26315405
GO:1905898	Process	Positive regulation of response to endoplasmic reticulum stress	IEA
GO:1990332	Component	Ire1 complex	NAS	19328063
GO:1990597	Component	AIP1-IRE1 complex	IEA
GO:1990604	Component	IRE1-TRAF2-ASK1 complex	IBA
GO:1990604	Component	IRE1-TRAF2-ASK1 complex	IDA	23000344
GO:1990630	Component	IRE1-RACK1-PP2A complex	IDA	20103773

MIM	HGNC	e!Ensembl
604033	3449	ENSG00000178607

O75460

Protein name

Serine/threonine-protein kinase/endoribonuclease IRE1 (Endoplasmic reticulum-to-nucleus signaling 1) (Inositol-requiring protein 1) (hIRE1p) (Ire1-alpha) (IRE1a) [Includes: Serine/threonine-protein kinase (EC 2.7.11.1); Endoribonuclease (EC 3.1.26.-)]

Protein function

Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR) (PubMed:11175748, PubMed:11779464, PubMed:12637535, PubMed:19328063, PubMed:21317875, PubMed:28128204, P

PDB

2HZ6 , 3P23 , 4U6R , 4YZ9 , 4YZC , 4YZD , 4Z7G , 4Z7H , 5HGI , 6HV0 , 6HX1 , 6SHC , 6URC , 6W39 , 6W3A , 6W3B , 6W3C , 6W3E , 6W3K , 6XDB , 6XDD , 6XDF , 7BMK , 8UVL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	571 → 832	Protein kinase domain	Domain
PF06479	Ribonuc_2-5A	838 → 961	Ribonuclease 2-5A	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. High levels observed in pancreatic tissue. {ECO:0000269|PubMed:9637683}.

Sequence

MPARRLLLLLTLLLPGLGIFGSTSTVTLPETLLFVSTLDGSLHAVSKRTGSIKWTLKEDP
VLQVPTHVEEPAFLPDPNDGSLYTLGSKNNEGLTKLPFTIPELVQASPCRSSDGILYMGK
KQDIWYVIDLLTGEKQQTLSSAFADSLCPSTSLLYLGRTEYTITMYDTKTRELRWNATYF
DYAASLPEDDVDYKMSHFVSNGDGLVVTVDSESGDVLWIQNYASPVVAFYVWQREGLRKV
MHINVAVETLRYLTFMSGEVGRITKWKYPFPKETEAKSKLTPTLYVGKYSTSLYASPSMV
HEGVAVVPRGSTLPLLEGPQTDGVTIGDKGECVITPSTDVKFDPGLKSKNKLNYLRNYWL
LIGHHETPLSASTKMLERFPNNLPKHRENVIPADSEKKSFEEVINLVDQTSENAPTTVSR
DVEEKPAHAPARPEAPVDSMLKDMATIILSTFLLIGWVAFIITYPLSMHQQQQLQHQQFQ
KELEKIQLLQQQQQQLPFHPPGDTAQDGELLDTSGPYSESSGTSSPSTSPRASNHSLCSG
SSASKAGSSPSLEQDDGDEETSVVIVGKISFCPKDVLGHGAEGTIVYRGMFDNRDVAVKR
ILPECFSFADREVQLLRESDEHPNVIRYFCTEKDRQFQYIAIELCAATLQEYVEQKDFAH
LGLEPITLLQQTTSGLAHLHSLNIVHRDLKPHNILISMPNAHGKIKAMISDFGLCKKLAV
GRHSFSRRSGVPGTEGWIAPEMLSEDCKENPTYTVDIFSAGCVFYYVISEGSHPFGKSLQ
RQANILLGACSLDCLHPEKHEDVIARELIEKMIAMDPQKRPSAKHVLKHPFFWSLEKQLQ
FFQDVSDRIEKESLDGPIVKQLERGGRAVVKMDWRENITVPLQTDLRKFRTYKGGSVRDL
LRAMRNKKHHYRELPAEVRETLGSLPDDFVCYFTSRFPHLLAHTYRAMELCSHERLFQPY
YFHEPPEPQPPVTPDAL

Sequence length

977

Interactions

View interactions

	KEGG		Reactome
	Autophagy - animal Protein processing in endoplasmic reticulum Apoptosis Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases Lipid and atherosclerosis		IRE1alpha activates chaperones

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 Unknown Diseases (12)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (179)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute pancreatitis	Pancreatitis	BEFREE	29912856, 30851439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28334878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29725981, 33637690	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	24681403, 26056941, 28725179, 29725981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29725981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29986726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	25657029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28137856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36548354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28137856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	29761862	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28380378, 29928282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	27373828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	19558813		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29485914, 29939407, 30426803, 31173213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	39272120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	30595371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22681620, 22982536, 27829216, 29367761, 29480818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22681620, 32672418, 33291081, 34614512, 36167768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	36167768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	31082732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	29381485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	36012375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	36175824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39352777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20165882, 29921924, 37326827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25797626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30305738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	37219631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	37907740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26091066	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	36175824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28487326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22740450		★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	29663887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	29276149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30559399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	35185383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28825721, 30482246, 31326465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28454221, 29859300, 31243264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30482246, 31243264, 32323831, 36585626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	26091066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	28388302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	25516437, 29769316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28082357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	28075361, 31428093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	31428093, 33802742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24269637, 26718307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30595371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26106220, 27634225, 31156553, 31500832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26106220, 27634225, 31156553, 31500832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33490239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26611106, 28380378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	28380378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28167662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CTD_human_DG	19558813		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	19558813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	29581854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	30679434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	25170079, 29764990, 29969718, 31123148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29018408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30538632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	30185587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26325176, 29311133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29311133, 32433555, 32446294, 35367758, 37107600, 37823569, 38563293, 39352777, 39652629, 40073403, 40073406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26325176, 29311133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22718352, 24330607, 29263275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27560636, 27560795, 28222026, 31734650, 31734653, 32857715, 32857719, 33885249, 33920356, 34020533, 36270342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	28428258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	33043579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	36465658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	29394934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	25516437, 29769316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25265476	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	38479365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	21954231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	21447637, 31039496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28137856, 28346409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	19106412	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	31578081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27560795, 28222026, 31734650, 32857715, 37107600, 37823569, 38563293, 39352777, 40073403	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28423496	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	29394934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30899368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29074489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	35170357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ileitis	Ileitis	BEFREE	28082357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	29928282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	31428093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22028783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22028783	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	33833850	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	BEFREE	24362465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34000298, 34032336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20858700	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26934650, 28969101, 30055408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12713871, 20165882, 25901709, 28835517, 30214606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	25265476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	25265476	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	36520816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	29554897	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	25226532, 25516752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	25516752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22681620, 27829216, 29367761, 29480818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30305738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24952679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30679434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21663964, 24362465, 25794824, 26325176, 27307600, 28358375, 29263275, 29311133, 30159133, 30305738, 31041814, 31205564, 31326465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28825721, 30482246, 31326465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25016296, 26018731, 28222747, 30989459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28222747, 30687308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	21317875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	26803729, 29673059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	27560636, 29673059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28346409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	30055408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24743743, 34895315	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12902539, 22028791, 22538852, 24362465, 27307600, 28167662, 28467788, 31371506, 31453810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19755988, 21317875, 21723843, 27634301, 32878237, 36555805, 37566015, 40215234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30661753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	30055408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	26091066	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	26351848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16861911, 20702765, 22718352, 24745346, 25901709, 26325176, 28618969, 28847931, 29480818, 29581854, 29804923, 30111846, 30159133, 30411035, 30936991, 31086333, 31320625 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	28428258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25740014, 30719816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30595371, 32531952, 37907740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30595371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29673059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28672279, 28730963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23913943, 37711626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28346409, 29764990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	31187548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	30414263, 31187548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27435272	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37907740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	26091066	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31081266		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30305738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35349489, 35619328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37651191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31641108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33637690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	30013108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28210980, 29843020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	31081266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30679434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23448667, 28338058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30899368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30625178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	35170357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	24664756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30081392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	31785812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30462773, 30728287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	36167768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	30414263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	25170079, 29764990, 29969718, 31123148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37651191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29334839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28740556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29440447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28358375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	30173053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram Syndrome	BEFREE	26106220		★★★★★ ★☆☆☆☆ Found in Text Mining only

ERN1 (endoplasmic reticulum to nucleus signaling 1)