TLR6 (toll like receptor 6)

Gene

• Entrez ID: 10333
• Gene name: Toll like receptor 6
• Gene symbol: TLR6
• Synonyms (NCBI Gene): CD286
• Chromosome: 4
• Chromosome location: 4p14
• 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
MIRT679765	hsa-miR-1245a	HITS-CLIP	23824327
MIRT679764	hsa-miR-8079	HITS-CLIP	23824327
MIRT679763	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT679762	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT679761	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT679760	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT679759	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT679758	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT679757	hsa-miR-6131	HITS-CLIP	23824327
MIRT679756	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT679755	hsa-miR-640	HITS-CLIP	23824327
MIRT679754	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT679753	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT652575	hsa-miR-7153-3p	HITS-CLIP	23824327
MIRT652574	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT652573	hsa-miR-95-5p	HITS-CLIP	23824327
MIRT652572	hsa-miR-3185	HITS-CLIP	23824327
MIRT652571	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT652570	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT652569	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT652568	hsa-miR-23c	HITS-CLIP	23824327
MIRT652567	hsa-miR-3611	HITS-CLIP	23824327
MIRT652565	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT679765	hsa-miR-1245a	HITS-CLIP	23824327
MIRT679764	hsa-miR-8079	HITS-CLIP	23824327
MIRT679763	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT679762	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT679761	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT679760	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT679759	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT679758	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT679757	hsa-miR-6131	HITS-CLIP	23824327
MIRT679756	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT679755	hsa-miR-640	HITS-CLIP	23824327
MIRT679754	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT679753	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT652575	hsa-miR-7153-3p	HITS-CLIP	23824327
MIRT652574	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT652573	hsa-miR-95-5p	HITS-CLIP	23824327
MIRT652572	hsa-miR-3185	HITS-CLIP	23824327
MIRT652571	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT652570	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT652569	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT652568	hsa-miR-23c	HITS-CLIP	23824327
MIRT652567	hsa-miR-3611	HITS-CLIP	23824327
MIRT652565	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT1426977	hsa-miR-1245	CLIP-seq
MIRT1426978	hsa-miR-1262	CLIP-seq
MIRT1426979	hsa-miR-1278	CLIP-seq
MIRT1426980	hsa-miR-1280	CLIP-seq
MIRT1426981	hsa-miR-1294	CLIP-seq
MIRT1426982	hsa-miR-1324	CLIP-seq
MIRT1426983	hsa-miR-149	CLIP-seq
MIRT1426984	hsa-miR-15a	CLIP-seq
MIRT1426985	hsa-miR-15b	CLIP-seq
MIRT1426986	hsa-miR-16	CLIP-seq
MIRT1426987	hsa-miR-195	CLIP-seq
MIRT1426988	hsa-miR-197	CLIP-seq
MIRT1426989	hsa-miR-3064-5p	CLIP-seq
MIRT1426990	hsa-miR-3065-3p	CLIP-seq
MIRT1426991	hsa-miR-3126-3p	CLIP-seq
MIRT1426992	hsa-miR-3169	CLIP-seq
MIRT1426993	hsa-miR-3187-3p	CLIP-seq
MIRT1426994	hsa-miR-3907	CLIP-seq
MIRT1426995	hsa-miR-3914	CLIP-seq
MIRT1426996	hsa-miR-3915	CLIP-seq
MIRT1426997	hsa-miR-3928	CLIP-seq
MIRT1426998	hsa-miR-424	CLIP-seq
MIRT1426999	hsa-miR-4316	CLIP-seq
MIRT1427000	hsa-miR-4435	CLIP-seq
MIRT1427001	hsa-miR-4677-3p	CLIP-seq
MIRT1427002	hsa-miR-4701-3p	CLIP-seq
MIRT1427003	hsa-miR-4701-5p	CLIP-seq
MIRT1427004	hsa-miR-4716-5p	CLIP-seq
MIRT1427005	hsa-miR-4781-3p	CLIP-seq
MIRT1427006	hsa-miR-4794	CLIP-seq
MIRT1427007	hsa-miR-497	CLIP-seq
MIRT1427008	hsa-miR-5096	CLIP-seq
MIRT1427009	hsa-miR-548s	CLIP-seq
MIRT1427010	hsa-miR-576-3p	CLIP-seq
MIRT1427011	hsa-miR-588	CLIP-seq
MIRT1427012	hsa-miR-765	CLIP-seq
MIRT1426977	hsa-miR-1245	CLIP-seq
MIRT1426977	hsa-miR-1245	CLIP-seq
MIRT1426988	hsa-miR-197	CLIP-seq
MIRT1426993	hsa-miR-3187-3p	CLIP-seq
MIRT1427000	hsa-miR-4435	CLIP-seq
MIRT1427003	hsa-miR-4701-5p	CLIP-seq
MIRT1427004	hsa-miR-4716-5p	CLIP-seq
MIRT1427005	hsa-miR-4781-3p	CLIP-seq
MIRT1427008	hsa-miR-5096	CLIP-seq
MIRT1427009	hsa-miR-548s	CLIP-seq
MIRT1427011	hsa-miR-588	CLIP-seq
MIRT2127909	hsa-miR-1207-5p	CLIP-seq
MIRT1426977	hsa-miR-1245	CLIP-seq
MIRT2127910	hsa-miR-1322	CLIP-seq
MIRT2127911	hsa-miR-1827	CLIP-seq
MIRT1426988	hsa-miR-197	CLIP-seq
MIRT2127912	hsa-miR-198	CLIP-seq
MIRT2127913	hsa-miR-3065-5p	CLIP-seq
MIRT2127914	hsa-miR-3074-5p	CLIP-seq
MIRT2127915	hsa-miR-3158-3p	CLIP-seq
MIRT2127916	hsa-miR-3175	CLIP-seq
MIRT2127917	hsa-miR-3199	CLIP-seq
MIRT2127918	hsa-miR-4515	CLIP-seq
MIRT1427004	hsa-miR-4716-5p	CLIP-seq
MIRT2127919	hsa-miR-4721	CLIP-seq
MIRT2127920	hsa-miR-4722-3p	CLIP-seq
MIRT2127921	hsa-miR-4735-5p	CLIP-seq
MIRT2127922	hsa-miR-4740-3p	CLIP-seq
MIRT2127923	hsa-miR-4763-3p	CLIP-seq
MIRT2127924	hsa-miR-4775	CLIP-seq
MIRT1427005	hsa-miR-4781-3p	CLIP-seq
MIRT1427008	hsa-miR-5096	CLIP-seq
MIRT2127925	hsa-miR-552	CLIP-seq
MIRT2127926	hsa-miR-590-3p	CLIP-seq
MIRT2127927	hsa-miR-764	CLIP-seq
MIRT2127928	hsa-miR-940	CLIP-seq
MIRT2127909	hsa-miR-1207-5p	CLIP-seq
MIRT1426977	hsa-miR-1245	CLIP-seq
MIRT1426982	hsa-miR-1324	CLIP-seq
MIRT2127911	hsa-miR-1827	CLIP-seq
MIRT2127914	hsa-miR-3074-5p	CLIP-seq
MIRT2349556	hsa-miR-3150a-3p	CLIP-seq
MIRT2127916	hsa-miR-3175	CLIP-seq
MIRT2127917	hsa-miR-3199	CLIP-seq
MIRT2349557	hsa-miR-3943	CLIP-seq
MIRT2349558	hsa-miR-4323	CLIP-seq
MIRT2349559	hsa-miR-4632	CLIP-seq
MIRT2349560	hsa-miR-4667-5p	CLIP-seq
MIRT2349561	hsa-miR-4700-5p	CLIP-seq
MIRT2127920	hsa-miR-4722-3p	CLIP-seq
MIRT2127921	hsa-miR-4735-5p	CLIP-seq
MIRT2127922	hsa-miR-4740-3p	CLIP-seq
MIRT2127923	hsa-miR-4763-3p	CLIP-seq
MIRT2127924	hsa-miR-4775	CLIP-seq
MIRT2349562	hsa-miR-532-3p	CLIP-seq
MIRT2127925	hsa-miR-552	CLIP-seq
MIRT2127926	hsa-miR-590-3p	CLIP-seq
MIRT2349563	hsa-miR-593	CLIP-seq
MIRT2127927	hsa-miR-764	CLIP-seq
MIRT2349564	hsa-miR-939	CLIP-seq
MIRT2127928	hsa-miR-940	CLIP-seq
MIRT2349565	hsa-miR-941	CLIP-seq
MIRT2395862	hsa-miR-1267	CLIP-seq
MIRT2395863	hsa-miR-2355-5p	CLIP-seq
MIRT2395864	hsa-miR-4279	CLIP-seq
MIRT2395865	hsa-miR-4652-3p	CLIP-seq
MIRT2461510	hsa-miR-1253	CLIP-seq
MIRT2461511	hsa-miR-185	CLIP-seq
MIRT2461512	hsa-miR-3150b-3p	CLIP-seq
MIRT2127917	hsa-miR-3199	CLIP-seq
MIRT2461513	hsa-miR-4306	CLIP-seq
MIRT2461514	hsa-miR-4644	CLIP-seq
MIRT2461515	hsa-miR-4784	CLIP-seq
MIRT2127925	hsa-miR-552	CLIP-seq
MIRT2127927	hsa-miR-764	CLIP-seq
MIRT2349565	hsa-miR-941	CLIP-seq
MIRT2643084	hsa-miR-1297	CLIP-seq
MIRT2643085	hsa-miR-150	CLIP-seq
MIRT2643086	hsa-miR-1915	CLIP-seq
MIRT2643087	hsa-miR-26a	CLIP-seq
MIRT2643088	hsa-miR-26b	CLIP-seq
MIRT2643089	hsa-miR-3120-5p	CLIP-seq
MIRT2643090	hsa-miR-3149	CLIP-seq
MIRT2643091	hsa-miR-4465	CLIP-seq
MIRT2643092	hsa-miR-4713-5p	CLIP-seq
MIRT2643093	hsa-miR-4726-3p	CLIP-seq
MIRT2127921	hsa-miR-4735-5p	CLIP-seq
MIRT2127924	hsa-miR-4775	CLIP-seq
MIRT2349562	hsa-miR-532-3p	CLIP-seq
MIRT2127926	hsa-miR-590-3p	CLIP-seq
MIRT2349565	hsa-miR-941	CLIP-seq
MIRT2643084	hsa-miR-1297	CLIP-seq
MIRT2643085	hsa-miR-150	CLIP-seq
MIRT2643086	hsa-miR-1915	CLIP-seq
MIRT2643087	hsa-miR-26a	CLIP-seq
MIRT2643088	hsa-miR-26b	CLIP-seq
MIRT2643089	hsa-miR-3120-5p	CLIP-seq
MIRT2693223	hsa-miR-3122	CLIP-seq
MIRT2643090	hsa-miR-3149	CLIP-seq
MIRT2693224	hsa-miR-3190	CLIP-seq
MIRT2127917	hsa-miR-3199	CLIP-seq
MIRT2693225	hsa-miR-3913-5p	CLIP-seq
MIRT2643091	hsa-miR-4465	CLIP-seq
MIRT2693226	hsa-miR-450b-3p	CLIP-seq
MIRT2693227	hsa-miR-455-5p	CLIP-seq
MIRT2643092	hsa-miR-4713-5p	CLIP-seq
MIRT2643093	hsa-miR-4726-3p	CLIP-seq
MIRT2127921	hsa-miR-4735-5p	CLIP-seq
MIRT2693228	hsa-miR-4752	CLIP-seq
MIRT2127924	hsa-miR-4775	CLIP-seq
MIRT2349562	hsa-miR-532-3p	CLIP-seq
MIRT2127925	hsa-miR-552	CLIP-seq
MIRT2127926	hsa-miR-590-3p	CLIP-seq
MIRT2693229	hsa-miR-7	CLIP-seq
MIRT2127927	hsa-miR-764	CLIP-seq
MIRT2693230	hsa-miR-769-3p	CLIP-seq
MIRT2349565	hsa-miR-941	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Unknown	18159247

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IC	20037584
GO:0001774	Process	Microglial cell activation	IEA
GO:0002224	Process	Toll-like receptor signaling pathway	IBA
GO:0002224	Process	Toll-like receptor signaling pathway	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002755	Process	MyD88-dependent toll-like receptor signaling pathway	IDA	20037584
GO:0002755	Process	MyD88-dependent toll-like receptor signaling pathway	IEA
GO:0002755	Process	MyD88-dependent toll-like receptor signaling pathway	ISS
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005102	Function	Signaling receptor binding	IPI	20037584
GO:0005515	Function	Protein binding	IPI	16880211, 20037584, 20067962, 23155421, 33961781
GO:0005794	Component	Golgi apparatus	IDA	16880211
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	33576548
GO:0005886	Component	Plasma membrane	TAS	10231569
GO:0006954	Process	Inflammatory response	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	TAS	10426995
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	10231569
GO:0007250	Process	Activation of NF-kappaB-inducing kinase activity	NAS	10231569
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032493	Process	Response to bacterial lipoprotein	IEA
GO:0032717	Process	Negative regulation of interleukin-8 production	IGI	22198949
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	ISS
GO:0032755	Process	Positive regulation of interleukin-6 production	ISS	12077222
GO:0034136	Process	Negative regulation of toll-like receptor 2 signaling pathway	IGI	22198949
GO:0035355	Component	Toll-like receptor 2-Toll-like receptor 6 protein complex	IBA
GO:0035355	Component	Toll-like receptor 2-Toll-like receptor 6 protein complex	IDA	16880211
GO:0035355	Component	Toll-like receptor 2-Toll-like receptor 6 protein complex	IEA
GO:0035355	Component	Toll-like receptor 2-Toll-like receptor 6 protein complex	IPI	23155421
GO:0035663	Function	Toll-like receptor 2 binding	IBA
GO:0035663	Function	Toll-like receptor 2 binding	IPI	16880211
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	IEA
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	ISS
GO:0038023	Function	Signaling receptor activity	IBA
GO:0038023	Function	Signaling receptor activity	TAS	10426995
GO:0038124	Process	Toll-like receptor TLR6:TLR2 signaling pathway	IDA	23626692
GO:0042496	Process	Detection of diacyl bacterial lipopeptide	IDA	19931471
GO:0042498	Function	Diacyl lipopeptide binding	IEA
GO:0042742	Process	Defense response to bacterium	TAS	10426995
GO:0042802	Function	Identical protein binding	IDA	25088687
GO:0042802	Function	Identical protein binding	IPI	23155421
GO:0043032	Process	Positive regulation of macrophage activation	IEA
GO:0043032	Process	Positive regulation of macrophage activation	ISS
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	10231569
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IGI	20037584
GO:0043235	Component	Receptor complex	IEA
GO:0043235	Component	Receptor complex	IPI	20037584
GO:0043507	Process	Positive regulation of JUN kinase activity	IDA	10231569
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	NAS	33576548
GO:0045121	Component	Membrane raft	IDA	16880211
GO:0045121	Component	Membrane raft	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	ISS
GO:0046209	Process	Nitric oxide metabolic process	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	20037584
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0061809	Function	NAD+ nucleosidase activity, cyclic ADP-ribose generating	IEA
GO:0071723	Function	Lipopeptide binding	IBA
GO:0071723	Function	Lipopeptide binding	IEA
GO:0071723	Function	Lipopeptide binding	ISS	11431423
GO:0071726	Process	Cellular response to diacyl bacterial lipopeptide	IBA
GO:0071726	Process	Cellular response to diacyl bacterial lipopeptide	IDA	19931471
GO:0071726	Process	Cellular response to diacyl bacterial lipopeptide	IDA	16880211
GO:0140052	Process	Cellular response to oxidised low-density lipoprotein particle stimulus	IDA	20037584
GO:0140052	Process	Cellular response to oxidised low-density lipoprotein particle stimulus	IEA
GO:0140052	Process	Cellular response to oxidised low-density lipoprotein particle stimulus	ISS
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	IEA
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	ISS
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IEA
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	ISS
GO:1903428	Process	Positive regulation of reactive oxygen species biosynthetic process	IEA
GO:1903428	Process	Positive regulation of reactive oxygen species biosynthetic process	ISS
GO:1904646	Process	Cellular response to amyloid-beta	IDA	20037584
GO:1904646	Process	Cellular response to amyloid-beta	IGI	20037584
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	ISS

Other IDs

• MIM: 605403
• HGNC: 16711
• e!Ensembl: ENSG00000174130

Protein

• UniProt ID: Q9Y2C9
• Protein name: Toll-like receptor 6 (CD antigen CD286)
• Protein function: Participates in the innate immune response to Gram-positive bacteria and fungi. Specifically recognizes diacylated and, to a lesser extent, triacylated lipopeptides (PubMed:20037584). In response to diacylated lipopeptides, forms the activation
• PDB: 4OM7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	76 → 133	Leucine rich repeat	Repeat
  PF13855	LRR_8	450 → 507	Leucine rich repeat	Repeat
  PF01463	LRRCT	558 → 583	Leucine rich repeat C-terminal domain	Family
  PF01582	TIR	641 → 796	TIR domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in monocytes, CD11c+ immature dendritic cells, plasmacytoid pre-dendritic cells and dermal microvessel endothelial cells.
• Sequence:

  MTKDKEPIVKSFHFVCLMIIIVGTRIQFSDGNEFAVDKSKRGLIHVPKDLPLKTKVLDMS
  QNYIAELQVSDMSFLSELTVLRLSHNRIQLLDLSVFKFNQDLEYLDLSHNQLQKISCHPI
  VSFRHLDLSFNDFKALPICKEFGNLSQLNFLGLSAMKLQKLDLLPIAHLHLSYILLDLRN
  YYIKENETESLQILNAKTLHLVFHPTSLFAIQVNISVNTLGCLQLTNIKLNDDNCQVFIK
  FLSELTRGSTLLNFTLNHIETTWKCLVRVFQFLWPKPVEYLNIYNLTIIESIREEDFTYS
  KTTLKALTIEHITNQVFLFSQTALYTVFSEMNIMMLTISDTPFIHMLCPHAPSTFKFLNF
  TQNVFTDSIFEKCSTLVKLETLILQKNGLKDLFKVGLMTKDMPSLEILDVSWNSLESGRH
  KENCTWVESIVVLNLSSNMLTDSVFRCLPPRIKVLDLHSNKIKSVPKQVVKLEALQELNV
  AFNSLTDLPGCGSFSSLSVLIIDHNSVSHPSADFFQSCQKMRSIKAGDNPFQCTCELREF
  VKNIDQVSSEVLEGWPDSYKCDYPESYRGSPLKDFHMSELSCNITLLIVTIGATMLVLAV
  TVTSLCIYLDLPWYLRMVCQWTQTRRRARNIPLEELQRNLQFHAFISYSEHDSAWVKSEL
  VPYLEKEDIQICLHERNFVPGKSIVENIINCIEKSYKSIFVLSPNFVQSEWCHYELYFAH
  HNLFHEGSNNLILILLEPIPQNSIPNKYHKLKALMTQRTYLQWPKEKSKRGLFWANIRAA
  FNMKLTLVTENNDVKS

• Sequence length: 796

Pathways

KEGG:

Phagosome
Toll-like receptor signaling pathway
Salmonella infection
Chagas disease
Tuberculosis
Lipid and atherosclerosis

Reactome:

ER-Phagosome pathway
MyD88:MAL(TIRAP) cascade initiated on plasma membrane
Toll Like Receptor TLR6:TLR2 Cascade
MyD88 deficiency (TLR2/4)
IRAK4 deficiency (TLR2/4)
Regulation of TLR by endogenous ligand

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
Abnormality of neuronal migration	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy, susceptibility to, 1	protective	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multisystem inflammatory syndrome in children	risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Susceptibility to severe COVID-19	Likely risk allele	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	25423559		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	20815312, 28228119		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	23817571		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28474755		★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	20740673	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	31376255	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15266299, 20815312, 22005301, 24445834, 28262750		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	16188043, 18547625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	16188043, 20815312, 28262750, 33066754	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	29785011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	29912993		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	29912993	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28474755		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22226452	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	29339359	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	32756992, 36226612	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	26795430		★☆☆☆☆ Found in Text Mining only
Brachydactyly Type D	Brachydactyly	Pubtator	28504607	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29127590, 30388713		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30388713, 31789409	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	BEFREE	24112285		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	23518821		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	23518821	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	23518821	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	22134717		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	16188043		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	29138803		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	29138803	Inhibit	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	16188043		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24670426		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	22185629, 32322884	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31281474		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31281474, 31771941		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	28143891		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21716313		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	26645352		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	26682905	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	16188043, 21447101, 24445834		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32573975	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	25261617	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	25261617		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	31786695, 32573975	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	16188043, 21447101		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	37232814	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37232814	Associate	★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	23657238		★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	27834919	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	27834919		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	35639375	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31282108	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	22703024		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	25028161		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	25028161	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	29339359	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28775078		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23477738		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	28166799		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17595233, 24670426, 30617966		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	17595233	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	24997157	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	21478107	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	31781675	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	27834919	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19843090	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	19029192		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29127590, 30388713		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25945796		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15812078, 16537705, 17932345, 18752252, 20200442		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16537705		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31281474		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	19029192		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25765738	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	20406964	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	28061462, 28151979	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	28151979		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	23765228		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	23765228, 35367529	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23424670, 31771941		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	24351080, 27834919		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	25347003		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	27834919		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27834919	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25376541	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25945796		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25945796	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	23124277		★☆☆☆☆ Found in Text Mining only
Pelvic Inflammatory Disease	Pelvic inflammatory disease	Pubtator	23255565	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	27727278		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15812078, 16537705, 17932345, 18752252, 20200442		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15812078, 18752252		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16537705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23272139, 23657238	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	25707385		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	23374856	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	30131804	Associate	★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	20815312, 28228119	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	22150367		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31002148		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	31786695	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	32069296	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27834919		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	33377396	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	36226612	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	16374251		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	24689870		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	39208235	Stimulate	★☆☆☆☆ Found in Text Mining only
Vaginal Neoplasms	Vaginal neoplasms	Pubtator	29286178	Associate	★☆☆☆☆ Found in Text Mining only