TLR8 (toll like receptor 8)

Gene

• Entrez ID: 51311
• Gene name: Toll like receptor 8
• Gene symbol: TLR8
• Synonyms (NCBI Gene): CD288, IMD98, TLR-8, hTLR8
• Chromosome: X
• Chromosome location: Xp22.2
• Summary: The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and func

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT650804	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT650803	hsa-miR-891b	HITS-CLIP	23824327
MIRT650804	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT650803	hsa-miR-891b	HITS-CLIP	23824327
MIRT735683	hsa-miR-340-3p	Immunofluorescence	31940779
MIRT735684	hsa-miR-132-5p	Immunofluorescence	31940779
MIRT736440	hsa-miR-491-3p	qRT-PCR, Flow cytometry	33679688
MIRT650804	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT650803	hsa-miR-891b	HITS-CLIP	23824327
MIRT650804	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT650803	hsa-miR-891b	HITS-CLIP	23824327
MIRT1427040	hsa-miR-125a-5p	CLIP-seq
MIRT1427041	hsa-miR-125b	CLIP-seq
MIRT1427042	hsa-miR-1301	CLIP-seq
MIRT1427043	hsa-miR-3613-3p	CLIP-seq
MIRT1427044	hsa-miR-3620	CLIP-seq
MIRT1427045	hsa-miR-3690	CLIP-seq
MIRT1427046	hsa-miR-371b-5p	CLIP-seq
MIRT1427047	hsa-miR-378	CLIP-seq
MIRT1427048	hsa-miR-378b	CLIP-seq
MIRT1427049	hsa-miR-378c	CLIP-seq
MIRT1427050	hsa-miR-378d	CLIP-seq
MIRT1427051	hsa-miR-378e	CLIP-seq
MIRT1427052	hsa-miR-378f	CLIP-seq
MIRT1427053	hsa-miR-378h	CLIP-seq
MIRT1427054	hsa-miR-378i	CLIP-seq
MIRT1427055	hsa-miR-3921	CLIP-seq
MIRT1427056	hsa-miR-410	CLIP-seq
MIRT1427057	hsa-miR-422a	CLIP-seq
MIRT1427058	hsa-miR-4251	CLIP-seq
MIRT1427059	hsa-miR-4319	CLIP-seq
MIRT1427060	hsa-miR-4329	CLIP-seq
MIRT1427061	hsa-miR-4459	CLIP-seq
MIRT1427062	hsa-miR-4653-5p	CLIP-seq
MIRT1427063	hsa-miR-4725-5p	CLIP-seq
MIRT1427064	hsa-miR-504	CLIP-seq
MIRT1427065	hsa-miR-5047	CLIP-seq
MIRT1427066	hsa-miR-548a-3p	CLIP-seq
MIRT1427067	hsa-miR-548ae	CLIP-seq
MIRT1427068	hsa-miR-548aj	CLIP-seq
MIRT1427069	hsa-miR-548am	CLIP-seq
MIRT1427070	hsa-miR-548e	CLIP-seq
MIRT1427071	hsa-miR-548f	CLIP-seq
MIRT1427072	hsa-miR-548g	CLIP-seq
MIRT1427073	hsa-miR-548x	CLIP-seq
MIRT1427074	hsa-miR-570	CLIP-seq
MIRT1427075	hsa-miR-665	CLIP-seq
MIRT2127948	hsa-miR-1972	CLIP-seq
MIRT2127949	hsa-miR-4274	CLIP-seq
MIRT2127950	hsa-miR-4436a	CLIP-seq
MIRT2127951	hsa-miR-4690-5p	CLIP-seq
MIRT2349577	hsa-miR-1269	CLIP-seq
MIRT2349578	hsa-miR-1269b	CLIP-seq
MIRT2349579	hsa-miR-1288	CLIP-seq
MIRT2349580	hsa-miR-323-5p	CLIP-seq
MIRT1427045	hsa-miR-3690	CLIP-seq
MIRT1427047	hsa-miR-378	CLIP-seq
MIRT1427048	hsa-miR-378b	CLIP-seq
MIRT1427049	hsa-miR-378c	CLIP-seq
MIRT1427050	hsa-miR-378d	CLIP-seq
MIRT1427051	hsa-miR-378e	CLIP-seq
MIRT1427052	hsa-miR-378f	CLIP-seq
MIRT1427053	hsa-miR-378h	CLIP-seq
MIRT1427054	hsa-miR-378i	CLIP-seq
MIRT1427057	hsa-miR-422a	CLIP-seq
MIRT2349581	hsa-miR-4292	CLIP-seq
MIRT2349582	hsa-miR-4308	CLIP-seq
MIRT2349583	hsa-miR-4446-5p	CLIP-seq
MIRT2349584	hsa-miR-4502	CLIP-seq
MIRT2349585	hsa-miR-4515	CLIP-seq
MIRT2349586	hsa-miR-4740-5p	CLIP-seq
MIRT2349587	hsa-miR-4755-5p	CLIP-seq
MIRT2349588	hsa-miR-621	CLIP-seq
MIRT2349589	hsa-miR-670	CLIP-seq
MIRT2643097	hsa-miR-1298	CLIP-seq
MIRT2643098	hsa-miR-3658	CLIP-seq
MIRT2643099	hsa-miR-579	CLIP-seq
MIRT2643100	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0002224	Process	Toll-like receptor signaling pathway	IBA
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IDA	16123302
GO:0003723	Function	RNA binding	TAS	16123302
GO:0003725	Function	Double-stranded RNA binding	IDA	16111635, 33718825
GO:0003727	Function	Single-stranded RNA binding	IDA	14976262, 24942581
GO:0005515	Function	Protein binding	IPI	22164301, 33961781
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IBA
GO:0009615	Process	Response to virus	IDA	12032557
GO:0009897	Component	External side of plasma membrane	IDA	24942581
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0016064	Process	Immunoglobulin mediated immune response	TAS	16123302
GO:0032695	Process	Negative regulation of interleukin-12 production	IDA	24942581
GO:0032727	Process	Positive regulation of interferon-alpha production	IDA	16286015
GO:0032727	Process	Positive regulation of interferon-alpha production	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	IDA	16286015
GO:0032728	Process	Positive regulation of interferon-beta production	IEA
GO:0032729	Process	Positive regulation of type II interferon production	IDA	16286015
GO:0032729	Process	Positive regulation of type II interferon production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	24942581, 33718825
GO:0032755	Process	Positive regulation of interleukin-6 production	IBA
GO:0032755	Process	Positive regulation of interleukin-6 production	IDA	24942581
GO:0032757	Process	Positive regulation of interleukin-8 production	IEA
GO:0032757	Process	Positive regulation of interleukin-8 production	IMP	16188996
GO:0034158	Process	Toll-like receptor 8 signaling pathway	IDA	12032557, 24942581, 33718825
GO:0036020	Component	Endolysosome membrane	IEA
GO:0036020	Component	Endolysosome membrane	TAS
GO:0038023	Function	Signaling receptor activity	NAS	12032557
GO:0038187	Function	Pattern recognition receptor activity	IBA
GO:0042802	Function	Identical protein binding	IPI	23520111, 25599397
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	12032557
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	NAS	12032557
GO:0045089	Process	Positive regulation of innate immune response	IDA	16123302
GO:0051607	Process	Defense response to virus	IBA
GO:0051607	Process	Defense response to virus	IDA	33718825
GO:0051607	Process	Defense response to virus	IEP	32634389
GO:0051607	Process	Defense response to virus	IMP	16188996
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0098542	Process	Defense response to other organism	IEA
GO:0140894	Process	Endolysosomal toll-like receptor signaling pathway	IEA

Other IDs

• MIM: 300366
• HGNC: 15632
• e!Ensembl: ENSG00000101916

Protein

• UniProt ID: Q9NR97
• Protein name: Toll-like receptor 8 (CD antigen CD288)
• Protein function: Endosomal receptor that plays a key role in innate and adaptive immunity (PubMed:25297876, PubMed:32433612). Controls host immune response against pathogens through recognition of RNA degradation products specific to microorganisms that are init
• PDB: 3W3G, 3W3J, 3W3K, 3W3L, 3W3M, 3W3N, 3WN4, 4QBZ, 4QC0, 4R07, 4R08, 4R09, 4R0A, 4R6A, 5AWA, 5AWB, 5AWC, 5AWD, 5AZ5, 5HDH, 5WYX, 5WYZ, 5Z14, 5Z15, 6KYA, 6TY5, 6V9U, 6WML, 6ZJZ, 7CRF, 7R52, 7R53, 7R54, 7RC9, 7YTX, 8PFI, 9MHW, 9MHX, 9MHY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00560	LRR_1	65 → 86	Leucine Rich Repeat	Repeat
  PF13855	LRR_8	276 → 323	Leucine rich repeat	Repeat
  PF13855	LRR_8	639 → 700	Leucine rich repeat	Repeat
  PF13855	LRR_8	712 → 774	Leucine rich repeat	Repeat
  PF01582	TIR	879 → 1039	TIR domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in myeloid dendritic cells, monocytes, and monocyte-derived dendritic cells. {ECO:0000269|PubMed:33718825}.
• Sequence:

  MENMFLQSSMLTCIFLLISGSCELCAEENFSRSYPCDEKKQNDSVIAECSNRRLQEVPQT
  VGKYVTELDLSDNFITHITNESFQGLQNLTKINLNHNPNVQHQNGNPGIQSNGLNITDGA
  FLNLKNLRELLLEDNQLPQIPSGLPESLTELSLIQNNIYNITKEGISRLINLKNLYLAWN
  CYFNKVCEKTNIEDGVFETLTNLELLSLSFNSLSHVPPKLPSSLRKLFLSNTQIKYISEE
  DFKGLINLTLLDLSGNCPRCFNAPFPCVPCDGGASINIDRFAFQNLTQLRYLNLSSTSLR
  KINAAWFKNMPHLKVLDLEFNYLVGEIASGAFLTMLPRLEILDLSFNYIKGSYPQHINIS
  RNFSKLLSLRALHLRGYVFQELREDDFQPLMQLPNLSTINLGINFIKQIDFKLFQNFSNL
  EIIYLSENRISPLVKDTRQSYANSSSFQRHIRKRRSTDFEFDPHSNFYHFTRPLIKPQCA
  AYGKALDLSLNSIFFIGPNQFENLPDIACLNLSANSNAQVLSGTEFSAIPHVKYLDLTNN
  RLDFDNASALTELSDLEVLDLSYNSHYFRIAGVTHHLEFIQNFTNLKVLNLSHNNIYTLT
  DKYNLESKSLVELVFSGNRLDILWNDDDNRYISIFKGLKNLTRLDLSLNRLKHIPNEAFL
  NLPASLTELHINDNMLKFFNWTLLQQFPRLELLDLRGNKLLFLTDSLSDFTSSLRTLLLS
  HNRISHLPSGFLSEVSSLKHLDLSSNLLKTINKSALETKTTTKLSMLELHGNPFECTCDI
  GDFRRWMDEHLNVKIPRLVDVICASPGDQRGKSIVSLELTTCVSDVTAVILFFFTFFITT
  MVMLAALAHHLFYWDVWFIYNVCLAKVKGYRSLSTSQTFYDAYISYDTKDASVTDWVINE
  LRYHLEESRDKNVLLCLEERDWDPGLAIIDNLMQSINQSKKTVFVLTKKYAKSWNFKTAF
  YLALQRLMDENMDVIIFILLEPVLQHSQYLRLRQRICKSSILQWPDNPKAEGLFWQTLRN
  VVLTENDSRYNNMYVDSIKQY

• Sequence length: 1041

Pathways

KEGG:

Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
Coronavirus disease - COVID-19

Reactome:

Trafficking and processing of endosomal TLR
Toll Like Receptor 7/8 (TLR7/8) Cascade
TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
MyD88 dependent cascade initiated on endosome

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autoimmune hemolytic anemia	Pathogenic	rs1385657144	RCV001824551	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 98 with autoinflammation, X-linked	Pathogenic	rs1385657144, rs2147259120	RCV002246410 RCV002246411 RCV002251772	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
INFLTR8	Pathogenic	rs1385657144, rs2147259120	RCV001526671 RCV001526672	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Systemic autoinflammation	Pathogenic	rs1385657144	RCV001824551	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATIVE POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS C	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TLR8-related condition	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic keratosis	Actinic keratosis	BEFREE	15606509		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	LHGDN	17090647		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	22857391, 26556310, 30237869		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17652175	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Autoimmune	Autoimmune hemolytic anemia	Pubtator	34981838	Associate	★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	Pubtator	24336024	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28478461		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	24277153		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	34981838, 36262248	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	28935693	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16052591, 22730373, 31376255, 36262248	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	31501466, 33377396	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	18682521, 25203745		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	18682521		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	26725554, 29486764, 32513781	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28478461		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32787365	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	35919038	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22226452	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19956107, 24277153, 25229618, 26790609, 30100350, 31552019, 31687820		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	23386618, 23787171, 26790609, 37723501	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	26486764		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	21832949		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	22832610	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	33512449	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly Type D	Brachydactyly	Pubtator	28504607	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30623789, 31789409		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30261893, 31789409, 33679700, 37914385	Associate	★☆☆☆☆ Found in Text Mining only
Bruton type agammaglobulinemia	Bruton type agammaglobulinemia	Pubtator	17090647	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27702821, 28453702		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	30044791	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25090652		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24782650		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24782650		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29871630		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	29196629	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29794016		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	18942751, 22185629, 37055495	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20728343		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25547486	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	19592080, 27188997	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	37896869	Stimulate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	28236535		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	21832949		★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	18985439		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18985439		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	39614436	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18985439		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	18942751, 18985539, 26486764		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	18942751, 19637197	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Contact	Contact dermatitis	Pubtator	28935206	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37773841	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36552771	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26485223, 28028829		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	25756647		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	21499082		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	19850743		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	19850743		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	26455634		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	32163230	Associate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingival diseases	Pubtator	32130362	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	31489594	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	25430040		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29061643		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	29061643	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30044791	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25126563, 26023919	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis C Chronic	Hepatitis c	Pubtator	23425350	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	28245863	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25657311	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25657311		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	29569859		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	33512449, 34981838	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	18942751, 18985539		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	18942751, 38115636	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27772795		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26445497	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	26445497	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	21478107	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19449004, 20859626	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	24307172	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19449004	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	27284092	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20237413, 34596365	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	22890025, 29321259, 31552019		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	38004071	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19440200, 22513098, 23468661, 24445780, 25485543, 28039018, 33336388, 36180106, 39776899	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19843090	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	29321259, 31552019		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	19440200, 22325161, 23468661, 24445780, 24525049, 24919757, 26762473, 28039018, 29321259, 31552019		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	29321259, 31552019		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29061643		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30623789, 31789409		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27702821		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26134824		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18056169		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25283842, 29345064, 31430261		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24782650		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28919783		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	23370977		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	30121951	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	28061462, 34193364, 36536067	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23593278	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	19664140	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23516559, 23787171		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23787171	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23221735, 23995793, 26134824, 30568763, 31430261		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	26123900	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25972604	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	33512449	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27677832		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27677832	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30476912	Stimulate	★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic neuritis	Pubtator	36969199	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23255072, 36262248	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	27702821		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33414414, 37317670	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26134824		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35802825	Associate	★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	24445780		★☆☆☆☆ Found in Text Mining only
Pericardial Effusion	Pericardial effusion	Pubtator	24445780	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30517775		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	32130362	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34516355	Stimulate	★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	21734241		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	21714072		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18056169		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	18056169		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	26123900, 31489594	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	29947302		★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	BEFREE	29794016		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	19703986, 28339016, 29859222		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	28935206, 38115636	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31385713		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	29486764	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	19017992		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28495399, 31501466		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	22857391, 28228119	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis Pulmonary	Sarcoidosis	Pubtator	39364409	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	38102721	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	23223421, 28245863, 28639412	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	25476907	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25476907		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	25113744	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	27943374	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28339016		★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	27188997	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32228580	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26928328, 29061643		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	26455634		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	33377396	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23223421, 29321259		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	36758851	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18985539		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23221735	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24782650	Stimulate	★☆☆☆☆ Found in Text Mining only
Vasculitis Central Nervous System	Vasculitis	Pubtator	34981838	Associate	★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	17090647, 17932028		★☆☆☆☆ Found in Text Mining only