PDIA3 (protein disulfide isomerase family A member 3)

Gene

• Entrez ID: 2923
• Gene name: Protein disulfide isomerase family A member 3
• Gene symbol: PDIA3
• Synonyms (NCBI Gene): ER60, ERp57, ERp60, ERp61, GRP57, GRP58, HEL-S-269, HEL-S-93n, HsT17083, P58, PI-PLC
• Chromosome: 15
• Chromosome location: 15q15.3
• Summary: This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demon

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555455456	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023749	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT025802	hsa-miR-7-5p	Sequencing	20371350
MIRT054720	hsa-miR-494-3p	Luciferase reporter assay, Western blot	24823364
MIRT718883	hsa-miR-146a-3p	HITS-CLIP	19536157
MIRT718882	hsa-miR-301a-5p	HITS-CLIP	19536157
MIRT718881	hsa-miR-301b-5p	HITS-CLIP	19536157
MIRT718880	hsa-miR-3921	HITS-CLIP	19536157
MIRT718879	hsa-miR-4653-5p	HITS-CLIP	19536157
MIRT718878	hsa-miR-4502	HITS-CLIP	19536157
MIRT718877	hsa-miR-4534	HITS-CLIP	19536157
MIRT718876	hsa-miR-8082	HITS-CLIP	19536157
MIRT718875	hsa-miR-3134	HITS-CLIP	19536157
MIRT025802	hsa-miR-7-5p	HITS-CLIP	19536157
MIRT342370	hsa-miR-6077	HITS-CLIP	19536157
MIRT342365	hsa-miR-520d-5p	HITS-CLIP	19536157
MIRT342364	hsa-miR-524-5p	HITS-CLIP	19536157
MIRT718874	hsa-miR-4273	HITS-CLIP	19536157
MIRT281136	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26004124
MIRT281136	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26004124
MIRT718883	hsa-miR-146a-3p	HITS-CLIP	19536157
MIRT718882	hsa-miR-301a-5p	HITS-CLIP	19536157
MIRT718881	hsa-miR-301b-5p	HITS-CLIP	19536157
MIRT718880	hsa-miR-3921	HITS-CLIP	19536157
MIRT718879	hsa-miR-4653-5p	HITS-CLIP	19536157
MIRT718878	hsa-miR-4502	HITS-CLIP	19536157
MIRT718877	hsa-miR-4534	HITS-CLIP	19536157
MIRT718876	hsa-miR-8082	HITS-CLIP	19536157
MIRT718875	hsa-miR-3134	HITS-CLIP	19536157
MIRT025802	hsa-miR-7-5p	HITS-CLIP	19536157
MIRT342370	hsa-miR-6077	HITS-CLIP	19536157
MIRT342365	hsa-miR-520d-5p	HITS-CLIP	19536157
MIRT342364	hsa-miR-524-5p	HITS-CLIP	19536157
MIRT718874	hsa-miR-4273	HITS-CLIP	19536157
MIRT1221400	hsa-miR-1208	CLIP-seq
MIRT1221401	hsa-miR-125a-5p	CLIP-seq
MIRT1221402	hsa-miR-125b	CLIP-seq
MIRT1221403	hsa-miR-1285	CLIP-seq
MIRT1221404	hsa-miR-1291	CLIP-seq
MIRT1221405	hsa-miR-1307	CLIP-seq
MIRT1221406	hsa-miR-3183	CLIP-seq
MIRT1221407	hsa-miR-3187-5p	CLIP-seq
MIRT1221408	hsa-miR-3613-3p	CLIP-seq
MIRT1221409	hsa-miR-3615	CLIP-seq
MIRT1221410	hsa-miR-3617	CLIP-seq
MIRT1221411	hsa-miR-3909	CLIP-seq
MIRT1221412	hsa-miR-3936	CLIP-seq
MIRT1221413	hsa-miR-3942-3p	CLIP-seq
MIRT1221414	hsa-miR-4319	CLIP-seq
MIRT1221415	hsa-miR-4324	CLIP-seq
MIRT1221416	hsa-miR-4424	CLIP-seq
MIRT1221417	hsa-miR-4452	CLIP-seq
MIRT1221418	hsa-miR-4638-5p	CLIP-seq
MIRT1221419	hsa-miR-4640-3p	CLIP-seq
MIRT1221420	hsa-miR-4694-5p	CLIP-seq
MIRT1221421	hsa-miR-4703-3p	CLIP-seq
MIRT1221422	hsa-miR-4723-3p	CLIP-seq
MIRT1221423	hsa-miR-4729	CLIP-seq
MIRT1221424	hsa-miR-4778-5p	CLIP-seq
MIRT1221425	hsa-miR-4796-3p	CLIP-seq
MIRT1221426	hsa-miR-520g	CLIP-seq
MIRT1221427	hsa-miR-520h	CLIP-seq
MIRT1221428	hsa-miR-570	CLIP-seq
MIRT1221429	hsa-miR-582-3p	CLIP-seq
MIRT1221430	hsa-miR-584	CLIP-seq
MIRT1221431	hsa-miR-612	CLIP-seq
MIRT1221432	hsa-miR-641	CLIP-seq
MIRT1221433	hsa-miR-668	CLIP-seq
MIRT1221434	hsa-miR-7	CLIP-seq
MIRT2063896	hsa-miR-1207-3p	CLIP-seq
MIRT1221400	hsa-miR-1208	CLIP-seq
MIRT2063897	hsa-miR-31	CLIP-seq
MIRT2063898	hsa-miR-3688-5p	CLIP-seq
MIRT2063899	hsa-miR-4446-5p	CLIP-seq
MIRT2063900	hsa-miR-4520a-5p	CLIP-seq
MIRT2063901	hsa-miR-4520b-5p	CLIP-seq
MIRT1221423	hsa-miR-4729	CLIP-seq
MIRT1221433	hsa-miR-668	CLIP-seq
MIRT1221400	hsa-miR-1208	CLIP-seq
MIRT1221401	hsa-miR-125a-5p	CLIP-seq
MIRT1221402	hsa-miR-125b	CLIP-seq
MIRT1221404	hsa-miR-1291	CLIP-seq
MIRT1221405	hsa-miR-1307	CLIP-seq
MIRT2292396	hsa-miR-3115	CLIP-seq
MIRT1221406	hsa-miR-3183	CLIP-seq
MIRT1221409	hsa-miR-3615	CLIP-seq
MIRT1221411	hsa-miR-3909	CLIP-seq
MIRT1221413	hsa-miR-3942-3p	CLIP-seq
MIRT1221414	hsa-miR-4319	CLIP-seq
MIRT1221415	hsa-miR-4324	CLIP-seq
MIRT2063900	hsa-miR-4520a-5p	CLIP-seq
MIRT2063901	hsa-miR-4520b-5p	CLIP-seq
MIRT1221418	hsa-miR-4638-5p	CLIP-seq
MIRT1221422	hsa-miR-4723-3p	CLIP-seq
MIRT1221423	hsa-miR-4729	CLIP-seq
MIRT1221424	hsa-miR-4778-5p	CLIP-seq
MIRT1221425	hsa-miR-4796-3p	CLIP-seq
MIRT1221433	hsa-miR-668	CLIP-seq
MIRT2392315	hsa-miR-1255a	CLIP-seq
MIRT2392316	hsa-miR-1255b	CLIP-seq
MIRT2063900	hsa-miR-4520a-5p	CLIP-seq
MIRT2063901	hsa-miR-4520b-5p	CLIP-seq
MIRT2392317	hsa-miR-4738-3p	CLIP-seq
MIRT2392318	hsa-miR-890	CLIP-seq
MIRT2590475	hsa-miR-1283	CLIP-seq
MIRT1221403	hsa-miR-1285	CLIP-seq
MIRT1221407	hsa-miR-3187-5p	CLIP-seq
MIRT2590476	hsa-miR-3647-3p	CLIP-seq
MIRT2590477	hsa-miR-4428	CLIP-seq
MIRT1221417	hsa-miR-4452	CLIP-seq
MIRT2590478	hsa-miR-4694-3p	CLIP-seq
MIRT2590479	hsa-miR-522	CLIP-seq
MIRT1221428	hsa-miR-570	CLIP-seq
MIRT2590480	hsa-miR-577	CLIP-seq
MIRT1221429	hsa-miR-582-3p	CLIP-seq
MIRT1221431	hsa-miR-612	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002502	Process	Peptide antigen assembly with MHC class I protein complex	IDA	17603487
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003756	Function	Protein disulfide isomerase activity	IBA
GO:0003756	Function	Protein disulfide isomerase activity	IEA
GO:0003756	Function	Protein disulfide isomerase activity	TAS	8624847
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	9399589
GO:0004629	Function	Phospholipase C activity	TAS
GO:0005515	Function	Protein binding	IPI	15896298, 16905107, 17055437, 17170699, 17947644, 20802462, 21057456, 21670307, 21941299, 22665516, 23826168, 26496610, 26618866, 30833792, 31324722, 32814053, 35156780, 36012204
GO:0005615	Component	Extracellular space	IDA	19995400
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	23826168
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	16130169
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006457	Process	Protein folding	IBA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	19995400
GO:0009986	Component	Cell surface	IEA
GO:0015035	Function	Protein-disulfide reductase activity	IDA	16677074
GO:0015035	Function	Protein-disulfide reductase activity	IEA
GO:0015036	Function	Disulfide oxidoreductase activity	TAS	22013210
GO:0016853	Function	Isomerase activity	IEA
GO:0034975	Process	Protein folding in endoplasmic reticulum	TAS	22013210
GO:0034976	Process	Response to endoplasmic reticulum stress	IBA
GO:0042470	Component	Melanosome	IEA
GO:0042802	Function	Identical protein binding	IPI	16905107
GO:0042824	Component	MHC class I peptide loading complex	IDA	17947644, 21263072, 35948544
GO:0045335	Component	Phagocytic vesicle	TAS
GO:0055038	Component	Recycling endosome membrane	TAS
GO:0061779	Component	Tapasin-ERp57 complex	IPI	19119025
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070527	Process	Platelet aggregation	IEA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:0098761	Process	Cellular response to interleukin-7	IEA
GO:0106222	Function	LncRNA binding	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IEA

Other IDs

• MIM: 602046
• HGNC: 4606
• e!Ensembl: ENSG00000167004

Protein

• UniProt ID: P30101
• Protein name: Protein disulfide-isomerase A3 (EC 5.3.4.1) (58 kDa glucose-regulated protein) (58 kDa microsomal protein) (p58) (Disulfide isomerase ER-60) (Endoplasmic reticulum resident protein 57) (ER protein 57) (ERp57) (Endoplasmic reticulum resident protein 60) (E
• Protein function: Protein disulfide isomerase that catalyzes the formation, isomerization, and reduction or oxidation of disulfide bonds in client proteins and functions as a protein folding chaperone (PubMed:11825568, PubMed:16193070, PubMed:27897272, PubMed:361
• PDB: 2ALB, 2DMM, 2H8L, 3F8U, 6ENY, 7QNG, 7QPD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00085	Thioredoxin	26 → 130	Thioredoxin	Domain
  PF13848	Thioredoxin_6	160 → 355		Domain
  PF00085	Thioredoxin	377 → 482	Thioredoxin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in the flagellum and head region of spermatozoa (at protein level) (PubMed:20400973). Expressed in liver, stomach and colon (at protein level). Expressed in gastric parietal cells and chief cells (at protein level) (PubMed:241
• Sequence:

  MRLRRLALFPGVALLLAAARLAAASDVLELTDDNFESRISDTGSAGLMLVEFFAPWCGHC
  KRLAPEYEAAATRLKGIVPLAKVDCTANTNTCNKYGVSGYPTLKIFRDGEEAGAYDGPRT
  ADGIVSHLKKQAGPASVPLRTEEEFKKFISDKDASIVGFFDDSFSEAHSEFLKAASNLRD
  NYRFAHTNVESLVNEYDDNGEGIILFRPSHLTNKFEDKTVAYTEQKMTSGKIKKFIQENI
  FGICPHMTEDNKDLIQGKDLLIAYYDVDYEKNAKGSNYWRNRVMMVAKKFLDAGHKLNFA
  VASRKTFSHELSDFGLESTAGEIPVVAIRTAKGEKFVMQEEFSRDGKALERFLQDYFDGN
  LKRYLKSEPIPESNDGPVKVVVAENFDEIVNNENKDVLIEFYAPWCGHCKNLEPKYKELG
  EKLSKDPNIVIAKMDATANDVPSPYEVRGFPTIYFSPANKKLNPKKYEGGRELSDFISYL
  QREATNPPVIQEEKPKKKKKAQEDL

• Sequence length: 505

Pathways

KEGG:

Protein processing in endoplasmic reticulum
Antigen processing and presentation
Human cytomegalovirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection

Reactome:

ER-Phagosome pathway
Calnexin/calreticulin cycle
Antigen Presentation: Folding, assembly and peptide loading of class I MHC

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE CHRONIC HEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS WITH CENTRILOBULAR NECROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDIA3-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 17	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	CTD_human_DG	21751358		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21917082		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29725981	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25913742, 27786579, 29409023		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25913742	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	31856737	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	25293813	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26435004		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	34983301	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	39237030	Stimulate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	CTD_human_DG	17353921		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18559534, 22266712		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22393307, 34732604, 36374169	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25081282, 25556465, 28373975, 33761087	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	26125904		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21598303	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28373975	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	25605256		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23024775, 37549780	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20596667, 27492604, 30431082		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23957851		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	23024775		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	23957851		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	23118872	Stimulate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	16762624		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30050307		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26513173	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	28373975		★☆☆☆☆ Found in Text Mining only
Congenital thrombotic disease due to Protein C deficiency	Congenital thrombotic thrombocytopenic purpura	Pubtator	25031753	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31747963		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	27363653		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29104478		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	26125904		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	26125904		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	28707894		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28938593		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	22608312		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27492604		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20686364, 25556465, 31886273	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	26214517	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	23782473	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	36889696	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31548728, 31633244		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33153019	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31548728, 31633244		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29207176		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29207176	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32687065, 33153019, 35401558, 36325335	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobin SC Disease	Hemoglobin sc disease	Pubtator	23782473	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	28373975	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	28373975	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33785835	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	39237030	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	25605256	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27415599	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22111715, 27415599, 29844689		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16762624, 28373975, 29672884, 30720090		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21472284		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	16762624		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23782473	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31886273	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34732604	Inhibit	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	21880371		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18559534, 22266712		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28938593		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	25605256		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20596667, 30431082		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17566973		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20035634, 26771192		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30720117		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CTD_human_DG	17353921		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18464797, 20544786, 22266712, 28723413, 28796255, 29844689, 30658391		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23957851		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19995546		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30200275	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	21880371		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis I	Mucopolysaccharidosis	Pubtator	39769211	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24344029	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22111715		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CTD_human_DG	17353921		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18464797, 20596667, 23957851, 26125904		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29425676		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	39769211	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27786579, 28723413, 29477346		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	20506389, 26214517		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29228584		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18567819, 21266224, 25293813	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20596667, 30431082		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16036111, 24961659	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39972314	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25031753	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24273027, 26361352		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34726906	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	39702372	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29115545		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20035634, 26771192		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17566973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19820934, 20035634, 26771192, 33761087	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal fibrosis	Renal fibrosis	BEFREE	23781031		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26724776		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	37549780	Associate	★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	CTD_human_DG	24413982		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	21917082, 26745629		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26745629	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	26214517		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30720117		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12923326, 16718772, 33620602	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	14522930		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17188166		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34732604	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	37990304	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	34996009, 39702372	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	21880371		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23024775	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23024775	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34983301	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	11162537		★☆☆☆☆ Found in Text Mining only