IRF5 (interferon regulatory factor 5)

Gene

• Entrez ID: 3663
• Gene name: Interferon regulatory factor 5
• Gene symbol: IRF5
• Synonyms (NCBI Gene): SLEB10
• Chromosome: 7
• Chromosome location: 7q32.1
• Summary: This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune syst

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2004640	T>G	Pathogenic, risk-factor	Genic upstream transcript variant, splice donor variant, intron variant
rs2070197	T>C	Risk-factor	3 prime UTR variant
rs10954213	G>A	Risk-factor	3 prime UTR variant
rs973851559	T>GG	Risk-factor, pathogenic	Intron variant, genic upstream transcript variant, splice donor variant
rs1432329681	T>-	Risk-factor, pathogenic	Intron variant, genic upstream transcript variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007158	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, Western blot	23303785
MIRT1071312	hsa-miR-1915	CLIP-seq
MIRT1071313	hsa-miR-296-3p	CLIP-seq
MIRT1071314	hsa-miR-3074-3p	CLIP-seq
MIRT1071315	hsa-miR-3174	CLIP-seq
MIRT1071316	hsa-miR-326	CLIP-seq
MIRT1071317	hsa-miR-330-5p	CLIP-seq
MIRT1071318	hsa-miR-3689a-3p	CLIP-seq
MIRT1071319	hsa-miR-3689c	CLIP-seq
MIRT1071320	hsa-miR-369-3p	CLIP-seq
MIRT1071321	hsa-miR-371-5p	CLIP-seq
MIRT1071322	hsa-miR-371b-5p	CLIP-seq
MIRT1071323	hsa-miR-374a	CLIP-seq
MIRT1071324	hsa-miR-374b	CLIP-seq
MIRT1071325	hsa-miR-3915	CLIP-seq
MIRT1071326	hsa-miR-3928	CLIP-seq
MIRT1071327	hsa-miR-4267	CLIP-seq
MIRT1071328	hsa-miR-4425	CLIP-seq
MIRT1071329	hsa-miR-4652-5p	CLIP-seq
MIRT1071330	hsa-miR-4667-5p	CLIP-seq
MIRT1071331	hsa-miR-4700-5p	CLIP-seq
MIRT1071332	hsa-miR-627	CLIP-seq
MIRT1071333	hsa-miR-637	CLIP-seq
MIRT1071334	hsa-miR-656	CLIP-seq
MIRT1071335	hsa-miR-924	CLIP-seq
MIRT1071336	hsa-miR-2110	CLIP-seq
MIRT1071337	hsa-miR-3150a-3p	CLIP-seq
MIRT1071315	hsa-miR-3174	CLIP-seq
MIRT1071338	hsa-miR-3175	CLIP-seq
MIRT1071321	hsa-miR-371-5p	CLIP-seq
MIRT1071322	hsa-miR-371b-5p	CLIP-seq
MIRT1071325	hsa-miR-3915	CLIP-seq
MIRT1071326	hsa-miR-3928	CLIP-seq
MIRT1071339	hsa-miR-4481	CLIP-seq
MIRT1071340	hsa-miR-4640-5p	CLIP-seq
MIRT1071341	hsa-miR-4642	CLIP-seq
MIRT1071342	hsa-miR-4715-5p	CLIP-seq
MIRT1071343	hsa-miR-4726-5p	CLIP-seq
MIRT1071344	hsa-miR-4745-5p	CLIP-seq
MIRT1071332	hsa-miR-627	CLIP-seq
MIRT1071335	hsa-miR-924	CLIP-seq
MIRT1071345	hsa-miR-939	CLIP-seq
MIRT1550208	hsa-miR-1910	CLIP-seq
MIRT1550209	hsa-miR-455-3p	CLIP-seq
MIRT2017538	hsa-let-7a	CLIP-seq
MIRT2017539	hsa-let-7b	CLIP-seq
MIRT2017540	hsa-let-7c	CLIP-seq
MIRT2017541	hsa-let-7d	CLIP-seq
MIRT2017542	hsa-let-7e	CLIP-seq
MIRT2017543	hsa-let-7f	CLIP-seq
MIRT2017544	hsa-let-7g	CLIP-seq
MIRT2017545	hsa-let-7i	CLIP-seq
MIRT2017546	hsa-miR-1184	CLIP-seq
MIRT2017547	hsa-miR-1202	CLIP-seq
MIRT2017548	hsa-miR-1284	CLIP-seq
MIRT2017549	hsa-miR-1912	CLIP-seq
MIRT2017550	hsa-miR-2467-3p	CLIP-seq
MIRT2017551	hsa-miR-3194-5p	CLIP-seq
MIRT2017552	hsa-miR-337-3p	CLIP-seq
MIRT2017553	hsa-miR-3678-3p	CLIP-seq
MIRT2017554	hsa-miR-3944-5p	CLIP-seq
MIRT2017555	hsa-miR-3972	CLIP-seq
MIRT2017556	hsa-miR-4257	CLIP-seq
MIRT2017557	hsa-miR-4423-3p	CLIP-seq
MIRT2017558	hsa-miR-4458	CLIP-seq
MIRT2017559	hsa-miR-4500	CLIP-seq
MIRT1071340	hsa-miR-4640-5p	CLIP-seq
MIRT2017560	hsa-miR-4691-5p	CLIP-seq
MIRT2017561	hsa-miR-4725-5p	CLIP-seq
MIRT1071343	hsa-miR-4726-5p	CLIP-seq
MIRT2017562	hsa-miR-504	CLIP-seq
MIRT2017563	hsa-miR-98	CLIP-seq
MIRT2552990	hsa-miR-3202	CLIP-seq
MIRT2552991	hsa-miR-3690	CLIP-seq
MIRT2552992	hsa-miR-4254	CLIP-seq
MIRT2552993	hsa-miR-4533	CLIP-seq
MIRT2017560	hsa-miR-4691-5p	CLIP-seq
MIRT2552994	hsa-miR-516a-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
IRF3	Unknown	20483755
SP1	Activation	20127100

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	25326418
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	12600985
GO:0002376	Process	Immune system process	IBA
GO:0002376	Process	Immune system process	IEA
GO:0002720	Process	Positive regulation of cytokine production involved in immune response	IDA	29046356
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	18836453, 20237317, 21903422, 21988832, 22995936, 25159141, 32433612
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22412986, 25326418
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	22412986, 25326418
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	25326418
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	25326418
GO:0032481	Process	Positive regulation of type I interferon production	IDA	32433612
GO:0032727	Process	Positive regulation of interferon-alpha production	IDA	22412986
GO:0032728	Process	Positive regulation of interferon-beta production	IDA	22412986
GO:0032735	Process	Positive regulation of interleukin-12 production	IDA	22412986
GO:0042802	Function	Identical protein binding	IPI	18836453
GO:0043065	Process	Positive regulation of apoptotic process	IMP	22412986
GO:0043565	Function	Sequence-specific DNA binding	IMP	23332764
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12600985, 22412986, 25326418, 32433612
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA	22412986
GO:0071224	Process	Cellular response to peptidoglycan	IDA	22412986
GO:0071225	Process	Cellular response to muramyl dipeptide	IDA	22412986
GO:0098586	Process	Cellular response to virus	IDA	29046356
GO:0120283	Function	Protein serine/threonine kinase binding	IPI	22412986
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 607218
• HGNC: 6120
• e!Ensembl: ENSG00000128604

Protein

• UniProt ID: Q13568
• Protein name: Interferon regulatory factor 5 (IRF-5)
• Protein function: Transcription factor that plays a critical role in innate immunity by activating expression of type I interferon (IFN) IFNA and INFB and inflammatory cytokines downstream of endolysosomal toll-like receptors TLR7, TLR8 and TLR9 (PubMed:11303025,
• PDB: 3DSH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00605	IRF	16 → 121	Interferon regulatory factor transcription factor	Domain
  PF10401	IRF-3	247 → 431	Interferon-regulatory factor 3	Family

• Sequence:

  MNQSIPVAPTPPRRVRLKPWLVAQVNSCQYPGLQWVNGEKKLFCIPWRHATRHGPSQDGD
  NTIFKAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDFRLIYDGPRDMPPQPYKIYEV
  CSNGPAPTDSQPPEDYSFGAGEEEEEEEELQRMLPSLSLTEDVKWPPTLQPPTLRPPTLQ
  PPTLQPPVVLGPPAPDPSPLAPPPGNPAGFRELLSEVLEPGPLPASLPPAGEQLLPDLLI
  SPHMLPLTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFP
  SPEDIPSDKQRFYTNQLLDVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNP
  IQREVKTKLFSLEHFLNELILFQKGQTNTPPPFEIFFCFGEEWPDRKPREKKLITVQVVP
  VAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPG
  AGLGVGQGPWPMHPAGMQ

• Sequence length: 498

Pathways

KEGG:

Toll-like receptor signaling pathway

Reactome:

Interferon gamma signaling
Interferon alpha/beta signaling

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
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-CENTROMERE-ANTIBODY-POSITIVE SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-TOPOISOMERASE-I-ANTIBODY-POSITIVE SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE SCLERODERMA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE 14	—	CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory bowel disease 14, susceptibility to	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRF5-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMITED CUTANEOUS SYSTEMIC SCLEROSIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMITED SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAPILLARY RENAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid arthritis	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCLERODERMA, SYSTEMIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic lupus erythematosus	Uncertain significance	ClinVar GWAS catalog, Orphanet GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 10	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic lupus erythematosus, susceptibility to, 10	risk factor; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLEROSIS WITH LIMITED CUTANEOUS INVOLVEMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet, GWAS catalog Disgenet, 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	BEFREE	19778284		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	26279299		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	25263394		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	22932083		★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	BEFREE	19116937, 19644887		★☆☆☆☆ Found in Text Mining only
Anterior uveitis	Uveitis	BEFREE	24116155		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	19644876	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	38175709	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	19778284, 28698173		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28802150		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	29928998, 30940621	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17158136, 17599733, 17881657, 18285424, 21807777, 23941291, 25011482, 27092776, 29379122, 31024565, 31169264, 33583939, 36814288, 39953635	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22613848, 27759022, 28515358		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	19778284, 28698173		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	33666161	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	22053985		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16642019, 17166181, 17557928, 18050197, 18063667, 18075793, 18285424, 18408250, 19778284, 20015215, 20802013, 20980283, 21239750, 21804190, 22066971, 22179739, 22544929, 22613848, 22674082, 22909381, 23288367, 23302156, 23985571, 24014567, 24116155, 24350899, 24697591, 25036352, 25205108, 26112714, 27521268, 28525378, 28578407, 29367853, 29483597, 29860420, 29867973, 29985675, 30199605, 30540578, 30672908, 31421124		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	18063667		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	18285424, 19796918, 20131239, 20639879, 21804190, 22544929, 22674082, 22909381, 23302156, 23616277, 24116155, 24697591, 25084355, 25205108, 26112714, 28525378, 28578407, 31421124, 31980060, 32328064, 33583939, 33666161, 36814288, 36869052, 37978231	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	14559832		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	19816589		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	28927974		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22053985, 25533286, 25649192		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25649192	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	25557482		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22507190	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	25649192	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20676325	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29079574, 29375210	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	25649192	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22194884, 31692554		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28562332	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22053985		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25011482		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25011482	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	29847542, 30176312		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28905935, 29131464		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	36828809	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	29274624		★☆☆☆☆ Found in Text Mining only
Chronic leukemia (category)	Leukemia	BEFREE	24445143		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19430534		★☆☆☆☆ Found in Text Mining only
Chronic recurrent multifocal osteomyelitis	Recurrent multifocal osteomyelitis	Pubtator	33628812	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31053739, 31182816		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	17881657, 22257839	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25350395		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29375210		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	28927974		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28562332		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18323517		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	24699314, 33802675	Associate	★☆☆☆☆ Found in Text Mining only
CREST Syndrome	CREST Syndrome	ORPHANET_DG	23372721		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17881657, 20127100, 22257839, 25564941		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	17881657, 22257839	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	26063186, 29274624, 31243648		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatographic urticaria	Dermatographic urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	25337792		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	25337792	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32806763, 36552771	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17557928, 18045485, 22685416		★☆☆☆☆ Found in Text Mining only
Diffuse cutaneous systemic sclerosis	Diffuse Cutaneous Systemic Sclerosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Scleroderma	Scleroderma	BEFREE	19877059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Scleroderma	Scleroderma	ORPHANET_DG	23372721		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	39993973	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	22053985		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	22053985, 25649192		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35993041	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	39993973	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	36899621	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	32328064	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28927974		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal inflammation	Gastrointestinal inflammation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	19918036		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31481662		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31481662		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33902005	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	21305501		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	20049410		★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	19116937, 19644887		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	19430534		★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	29375210	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25649192	Inhibit	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	26279299		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	32806763	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	33802675	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	33802675	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	34108245	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	25337792		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19116937, 19644887		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	20479942		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	25284481, 29985675		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Disease 14	Inflammatory Bowel Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17881657, 18063667, 18285424, 19778284, 20127100, 22257839, 28578407, 30199605		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	17881657, 18063667		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	17881657, 18285424, 22257839, 28578407	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	32188105	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	32806763	Stimulate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	22053985		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	21239750, 29423720		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	19129183, 21133648		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23023776		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	23023776	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36033826	Associate	★☆☆☆☆ Found in Text Mining only
Libman-Sacks Disease	Nonbacterial verrucal endocardiosis	CTD_human_DG	18204446, 19838193		★☆☆☆☆ Found in Text Mining only
Limited cutaneous systemic sclerosis	Limited Systemic Sclerosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	29079574, 31681610		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29375210		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	29375210	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	20639879, 20639880, 25205108	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	27759022		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	22440820, 25337792	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	22440820, 25337792		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22194884	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	17412832, 18075793, 19116937, 20802013, 20848568, 21305501, 21952918, 22116829, 22422888, 22932083, 22933628, 23883595, 24014567, 24697591, 26092158, 29367853, 29483597, 29867973, 30168487		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	19758313	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Discoid	Discoid lupus erythematosus	Pubtator	19758313	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15657875, 17133578, 17158136, 17189288, 17389033, 17393452, 17412832, 17557928, 17881657, 18050197, 18050247, 18200047, 18204446, 18285424, 18311811, 18668568, 19116937, 19440200, 19758313, 19796918, 19854706, 20112383, 20169177, 20848568, 21408207, 21627826, 21952918, 22088620, 22110124, 22500098, 22674082, 23236436, 23341919, 23372721, 23941291, 24116155, 24697591, 25084355, 25130328, 25205108, 26606652, 28578407, 29437559, 29867973, 31024565, 31156624, 31421124, 31877114, 31980060, 33687153, 34952359, 35958624, 36814288	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	20112383, 23349905, 28525378, 32730703	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	17412832, 18075793, 19116937, 20802013, 20848568, 21305501, 21952918, 22116829, 22422888, 22933628, 23883595, 24014567, 24697591, 26092158, 29367853, 29483597, 29867973, 30168487		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15657875, 16642019, 17133578, 17158136, 17166181, 17189288, 17384181, 17389033, 17393452, 17412832, 17476532, 17557928, 17568788, 17581625, 17881657, 18050197, 18050247, 18063667, 18075793, 18200047, 18204446, 18285424, 18288123, 18311811, 18323517, 18438842, 18579578, 18668568, 18843782, 18843785, 19019891, 19043711, 19092842, 19116937, 19357696, 19440200, 19479858, 19567624, 19796918, 19854706, 20035223, 20049410, 20080916, 20112359, 20112363, 20112383, 20479222, 20695768, 20802013, 20848568, 20947545, 21040166, 21060334, 21179067, 21239750, 21305501, 21408207, 21575916, 21627826, 21834935, 21872684, 21952918, 21968701, 22039224, 22088620, 22110124, 22116829, 22422888, 22674082, 22730365, 22932083, 22933628, 23053960, 23341919, 23349905, 23372721, 23883595, 23941291, 24014567, 24023622, 24697591, 25130328, 25205108, 25779693, 26092158, 26233721, 26294277, 26606652, 27521268, 28059021, 28185859, 28525378, 28578407, 29367853, 29483597, 29860420, 29867973, 30168487, 30199605, 30645688, 31018759, 31032751, 31130331, 31156624, 31347288, 31421124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	ORPHANET_DG	15657875, 22654485, 23917156, 23943494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17189288, 17389033, 17412832, 17568788, 18050197, 18260169, 18288123, 18311811, 18579578, 18668568, 18843782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	CTD_human_DG	18204446, 19838193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	19838195, 26502338, 27399966, 28714469, 30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	21408207, 24871463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus Nephritis	BEFREE	20479942, 21040166, 24386384, 28059021		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	17412832, 18075793, 19116937, 20802013, 20848568, 21305501, 21952918, 22116829, 22422888, 22933628, 23883595, 24014567, 24697591, 26092158, 29367853, 29483597, 29867973, 30168487		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	32517705	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	21898142		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22816737, 25288773		★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	21239750, 21898142, 30630901		★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	BEFREE	24116155		★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	BEFREE	24116155		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22053985, 25533286, 25649192		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22194884, 31692554		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	22507190		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20507321, 29079574, 31447002		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25533286		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22909381		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22909381	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18063667, 18285424, 20861862, 21471993, 23726763, 24943672, 26112714, 28578407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18063667, 18285424		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	18285424, 28578407	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUTYH-Associate Polyposis	Polyposis	BEFREE	29352853		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	23049601	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	24445143		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	18323517		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31279856		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	25337792	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis	Myositis	GWASCAT_DG	30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	31086271		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	31086271		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14559832, 16103093, 17609264, 22053985, 22507190, 22816737, 22909381, 25288773, 25533286, 25557482, 28507795, 29079574, 31481662		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	26112714		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Crohn disease	Crohn disease	Orphanet			★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Ulcerative colitis	Ulcerative colitis	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31447002, 31692554		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	22053985, 25649192		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25939064, 28746869, 31718015		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31718015, 32188105	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35012444, 35362545	Associate	★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	29352853		★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	20049410		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	25263394		★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	22179739		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	19644876		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	25337792		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	Pubtator	25337792	Associate	★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary biliary cholangitis	Biliary Cholangitis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	21506939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	22961000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	22961000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33934205	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	18075793, 18200047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	18200047	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19116937, 19644887, 28422760, 28434122		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	19116937, 19644887	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17133578, 17158136, 17599733, 17881657, 18075793, 18285424, 18408250, 18438842, 18752149, 18843785, 19228650, 20049410, 20112363, 20980283, 21239750, 21807777, 23073787, 23801380, 23941291, 24014567, 25011482, 25263394, 26879349, 27092776, 29352853, 29379122, 30199605		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17133578, 17158136, 17599733, 18752149, 18843785		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	20453842, 23143596		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	21156761, 23143596		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	21156761, 23143596, 30423114, 30573655		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoidosis	Sarcoidosis	BEFREE	23288367		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	19116937, 19644887, 19796918, 19877059, 20383147, 22440820, 23372721, 31024565, 31421124, 31916109, 31980060	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma, Limited	Scleroderma	ORPHANET_DG	23372721		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	28569041		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	18050197, 19116937, 19565491, 22674082, 23302156, 24097067, 28076899, 28578407, 31169264, 36814288	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	38016737	Stimulate	★☆☆☆☆ Found in Text Mining only
Sjogren`s Syndrome	Sjogren`s Syndrome	GWASCAT_DG	28076899		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	33369221	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35664436	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20507321	Inhibit	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	39953635	Associate	★☆☆☆☆ Found in Text Mining only
Systemic lupus erythematosus	Systemic lupus erythematosus	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Systemic Scleroderma	Scleroderma	BEFREE	19116937, 19479858, 19644887, 19796918, 19877059, 20231204, 22440820, 23372721, 25036352, 25572744, 26712637, 28434122, 31421124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	LHGDN	19116937		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	CTD_human_DG	20383147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASCAT_DG	30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Thrombocytopenia	Pubtator	30168487	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	22507190		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	22507190		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22507190	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	17881657, 20127100, 22019623, 22257839, 23971939, 26398853, 31053739		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis	Uveitis	BEFREE	24116155		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	24116155	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	24116155	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	23985571		★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	37978231	Associate	★☆☆☆☆ Found in Text Mining only