TBK1 (TANK binding kinase 1)

Gene

• Entrez ID: 29110
• Gene name: TANK binding kinase 1
• Gene symbol: TBK1
• Synonyms (NCBI Gene): AIARV, FTDALS4, IIAE8, NAK, T2K
• Chromosome: 12
• Chromosome location: 12q14.2
• Summary: The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitinat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs55824172	C>G,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs142030898	C>T	Other, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs748112833	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs755950225	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs756751089	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs767898276	G>A	Pathogenic	Splice donor variant
rs876657404	TTAA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs876657405	TG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs876657406	T>C	Pathogenic	Splice donor variant
rs905184241	C>G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1010930015	A>C	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs1027249002	C>A,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064797170	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1328949478	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1341055534	G>A	Pathogenic	Splice donor variant
rs1402092579	AAG>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs1555202947	G>C	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs1555203557	A>G	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs1555204731	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1565814492	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1565825132	G>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592350883	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592350887	G>A	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs1592362719	G>A	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006971	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	22991189
MIRT006971	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	22991189
MIRT003360	hsa-miR-221-3p	Reporter assay;Western blot;Microarray	20018759
MIRT053453	hsa-miR-452-5p	Microarray	23807165
MIRT517392	hsa-miR-3133	PAR-CLIP	20371350
MIRT517391	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT066418	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT066413	hsa-let-7f-2-3p	PAR-CLIP	20371350
MIRT066415	hsa-miR-1185-1-3p	PAR-CLIP	20371350
MIRT066414	hsa-miR-1185-2-3p	PAR-CLIP	20371350
MIRT517392	hsa-miR-3133	PAR-CLIP	20371350
MIRT517391	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT066418	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT066413	hsa-let-7f-2-3p	PAR-CLIP	20371350
MIRT066415	hsa-miR-1185-1-3p	PAR-CLIP	20371350
MIRT066414	hsa-miR-1185-2-3p	PAR-CLIP	20371350
MIRT517392	hsa-miR-3133	PAR-CLIP	23446348
MIRT517391	hsa-miR-186-5p	PAR-CLIP	23446348
MIRT066418	hsa-miR-6792-5p	PAR-CLIP	23446348
MIRT066413	hsa-let-7f-2-3p	PAR-CLIP	23446348
MIRT066415	hsa-miR-1185-1-3p	PAR-CLIP	23446348
MIRT066414	hsa-miR-1185-2-3p	PAR-CLIP	23446348
MIRT500838	hsa-miR-219a-2-3p	PAR-CLIP	24398324
MIRT500837	hsa-miR-200b-3p	PAR-CLIP	24398324
MIRT006971	hsa-miR-200c-3p	PAR-CLIP	24398324
MIRT500835	hsa-miR-429	PAR-CLIP	24398324
MIRT500836	hsa-miR-4724-5p	PAR-CLIP	24398324
MIRT500834	hsa-miR-4680-3p	PAR-CLIP	24398324
MIRT500833	hsa-miR-219b-3p	PAR-CLIP	24398324
MIRT500831	hsa-miR-3671	PAR-CLIP	24398324
MIRT500832	hsa-miR-3674	PAR-CLIP	24398324
MIRT517392	hsa-miR-3133	PAR-CLIP	20371350
MIRT517391	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT066418	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT066413	hsa-let-7f-2-3p	PAR-CLIP	20371350
MIRT066415	hsa-miR-1185-1-3p	PAR-CLIP	20371350
MIRT066414	hsa-miR-1185-2-3p	PAR-CLIP	20371350
MIRT517392	hsa-miR-3133	PAR-CLIP	20371350
MIRT517391	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT066418	hsa-miR-6792-5p	PAR-CLIP	20371350
MIRT066413	hsa-let-7f-2-3p	PAR-CLIP	20371350
MIRT066415	hsa-miR-1185-1-3p	PAR-CLIP	20371350
MIRT066414	hsa-miR-1185-2-3p	PAR-CLIP	20371350
MIRT517392	hsa-miR-3133	PAR-CLIP	23446348
MIRT517391	hsa-miR-186-5p	PAR-CLIP	23446348
MIRT066418	hsa-miR-6792-5p	PAR-CLIP	23446348
MIRT066413	hsa-let-7f-2-3p	PAR-CLIP	23446348
MIRT066415	hsa-miR-1185-1-3p	PAR-CLIP	23446348
MIRT066414	hsa-miR-1185-2-3p	PAR-CLIP	23446348
MIRT500838	hsa-miR-219a-2-3p	PAR-CLIP	24398324
MIRT500837	hsa-miR-200b-3p	PAR-CLIP	24398324
MIRT006971	hsa-miR-200c-3p	PAR-CLIP	24398324
MIRT500835	hsa-miR-429	PAR-CLIP	24398324
MIRT500836	hsa-miR-4724-5p	PAR-CLIP	24398324
MIRT500834	hsa-miR-4680-3p	PAR-CLIP	24398324
MIRT500833	hsa-miR-219b-3p	PAR-CLIP	24398324
MIRT500831	hsa-miR-3671	PAR-CLIP	24398324
MIRT500832	hsa-miR-3674	PAR-CLIP	24398324
MIRT755488	hsa-miR-19a-3p	Luciferase reporter assay, Western blotting, qRT-PCR, in vitro cullelar assays	35433983
MIRT1414199	hsa-miR-1237	CLIP-seq
MIRT1414200	hsa-miR-1238	CLIP-seq
MIRT1414201	hsa-miR-1248	CLIP-seq
MIRT1414202	hsa-miR-132	CLIP-seq
MIRT1414203	hsa-miR-135a	CLIP-seq
MIRT1414204	hsa-miR-135b	CLIP-seq
MIRT1414205	hsa-miR-142-5p	CLIP-seq
MIRT1414206	hsa-miR-155	CLIP-seq
MIRT1414207	hsa-miR-200b	CLIP-seq
MIRT1414208	hsa-miR-200c	CLIP-seq
MIRT1414209	hsa-miR-212	CLIP-seq
MIRT1414210	hsa-miR-219-2-3p	CLIP-seq
MIRT1414211	hsa-miR-27a	CLIP-seq
MIRT1414212	hsa-miR-27b	CLIP-seq
MIRT1414213	hsa-miR-2964a-3p	CLIP-seq
MIRT1414214	hsa-miR-3119	CLIP-seq
MIRT1414215	hsa-miR-3160-5p	CLIP-seq
MIRT1414216	hsa-miR-3163	CLIP-seq
MIRT1414217	hsa-miR-340	CLIP-seq
MIRT1414218	hsa-miR-362-5p	CLIP-seq
MIRT1414219	hsa-miR-365	CLIP-seq
MIRT1414220	hsa-miR-3910	CLIP-seq
MIRT1414221	hsa-miR-412	CLIP-seq
MIRT1414222	hsa-miR-4252	CLIP-seq
MIRT1414223	hsa-miR-4282	CLIP-seq
MIRT1414224	hsa-miR-4420	CLIP-seq
MIRT1414225	hsa-miR-4466	CLIP-seq
MIRT1414226	hsa-miR-4484	CLIP-seq
MIRT1414227	hsa-miR-4659a-3p	CLIP-seq
MIRT1414228	hsa-miR-4659b-3p	CLIP-seq
MIRT1414229	hsa-miR-4699-3p	CLIP-seq
MIRT1414230	hsa-miR-4729	CLIP-seq
MIRT1414231	hsa-miR-4733-5p	CLIP-seq
MIRT1414232	hsa-miR-500b	CLIP-seq
MIRT1414233	hsa-miR-501-5p	CLIP-seq
MIRT1414234	hsa-miR-513a-3p	CLIP-seq
MIRT1414235	hsa-miR-513a-5p	CLIP-seq
MIRT1414236	hsa-miR-548an	CLIP-seq
MIRT1414237	hsa-miR-577	CLIP-seq
MIRT1414238	hsa-miR-579	CLIP-seq
MIRT1414239	hsa-miR-664	CLIP-seq
MIRT1414240	hsa-miR-675	CLIP-seq
MIRT1414241	hsa-miR-767-3p	CLIP-seq
MIRT1414242	hsa-miR-942	CLIP-seq
MIRT1414243	hsa-miR-944	CLIP-seq
MIRT2124259	hsa-miR-128	CLIP-seq
MIRT2124260	hsa-miR-145	CLIP-seq
MIRT1414207	hsa-miR-200b	CLIP-seq
MIRT1414208	hsa-miR-200c	CLIP-seq
MIRT1414211	hsa-miR-27a	CLIP-seq
MIRT1414212	hsa-miR-27b	CLIP-seq
MIRT2124261	hsa-miR-3125	CLIP-seq
MIRT2124262	hsa-miR-3149	CLIP-seq
MIRT2124263	hsa-miR-3180-5p	CLIP-seq
MIRT2124264	hsa-miR-338-5p	CLIP-seq
MIRT2124265	hsa-miR-3916	CLIP-seq
MIRT2124266	hsa-miR-3919	CLIP-seq
MIRT2124267	hsa-miR-3924	CLIP-seq
MIRT2124268	hsa-miR-3943	CLIP-seq
MIRT2124269	hsa-miR-4286	CLIP-seq
MIRT2124270	hsa-miR-4323	CLIP-seq
MIRT1414229	hsa-miR-4699-3p	CLIP-seq
MIRT2124271	hsa-miR-4712-5p	CLIP-seq
MIRT1414230	hsa-miR-4729	CLIP-seq
MIRT2124272	hsa-miR-4756-3p	CLIP-seq
MIRT2124273	hsa-miR-4758-3p	CLIP-seq
MIRT2124274	hsa-miR-568	CLIP-seq
MIRT1414238	hsa-miR-579	CLIP-seq
MIRT1414239	hsa-miR-664	CLIP-seq
MIRT2124275	hsa-miR-759	CLIP-seq
MIRT1414241	hsa-miR-767-3p	CLIP-seq
MIRT2124276	hsa-miR-770-5p	CLIP-seq
MIRT2124277	hsa-miR-877	CLIP-seq
MIRT2346563	hsa-miR-1279	CLIP-seq
MIRT2124259	hsa-miR-128	CLIP-seq
MIRT1414205	hsa-miR-142-5p	CLIP-seq
MIRT2124260	hsa-miR-145	CLIP-seq
MIRT1414207	hsa-miR-200b	CLIP-seq
MIRT1414208	hsa-miR-200c	CLIP-seq
MIRT1414210	hsa-miR-219-2-3p	CLIP-seq
MIRT1414211	hsa-miR-27a	CLIP-seq
MIRT1414212	hsa-miR-27b	CLIP-seq
MIRT1414213	hsa-miR-2964a-3p	CLIP-seq
MIRT2124261	hsa-miR-3125	CLIP-seq
MIRT2124262	hsa-miR-3149	CLIP-seq
MIRT1414216	hsa-miR-3163	CLIP-seq
MIRT2124263	hsa-miR-3180-5p	CLIP-seq
MIRT2124264	hsa-miR-338-5p	CLIP-seq
MIRT1414217	hsa-miR-340	CLIP-seq
MIRT1414219	hsa-miR-365	CLIP-seq
MIRT2124265	hsa-miR-3916	CLIP-seq
MIRT2124266	hsa-miR-3919	CLIP-seq
MIRT2124268	hsa-miR-3943	CLIP-seq
MIRT1414221	hsa-miR-412	CLIP-seq
MIRT1414223	hsa-miR-4282	CLIP-seq
MIRT2124269	hsa-miR-4286	CLIP-seq
MIRT2124270	hsa-miR-4323	CLIP-seq
MIRT1414224	hsa-miR-4420	CLIP-seq
MIRT1414227	hsa-miR-4659a-3p	CLIP-seq
MIRT1414228	hsa-miR-4659b-3p	CLIP-seq
MIRT1414229	hsa-miR-4699-3p	CLIP-seq
MIRT2124271	hsa-miR-4712-5p	CLIP-seq
MIRT2124272	hsa-miR-4756-3p	CLIP-seq
MIRT2124273	hsa-miR-4758-3p	CLIP-seq
MIRT2346564	hsa-miR-505	CLIP-seq
MIRT1414234	hsa-miR-513a-3p	CLIP-seq
MIRT1414235	hsa-miR-513a-5p	CLIP-seq
MIRT2346565	hsa-miR-520d-5p	CLIP-seq
MIRT2346566	hsa-miR-524-5p	CLIP-seq
MIRT2124274	hsa-miR-568	CLIP-seq
MIRT1414238	hsa-miR-579	CLIP-seq
MIRT1414239	hsa-miR-664	CLIP-seq
MIRT2124275	hsa-miR-759	CLIP-seq
MIRT2124276	hsa-miR-770-5p	CLIP-seq
MIRT2124277	hsa-miR-877	CLIP-seq
MIRT2639251	hsa-miR-1200	CLIP-seq
MIRT1414199	hsa-miR-1237	CLIP-seq
MIRT1414201	hsa-miR-1248	CLIP-seq
MIRT2124259	hsa-miR-128	CLIP-seq
MIRT1414202	hsa-miR-132	CLIP-seq
MIRT1414209	hsa-miR-212	CLIP-seq
MIRT1414211	hsa-miR-27a	CLIP-seq
MIRT1414212	hsa-miR-27b	CLIP-seq
MIRT2639252	hsa-miR-3613-3p	CLIP-seq
MIRT1414218	hsa-miR-362-5p	CLIP-seq
MIRT2639253	hsa-miR-371-5p	CLIP-seq
MIRT2639254	hsa-miR-371b-5p	CLIP-seq
MIRT1414221	hsa-miR-412	CLIP-seq
MIRT1414222	hsa-miR-4252	CLIP-seq
MIRT1414223	hsa-miR-4282	CLIP-seq
MIRT2639255	hsa-miR-4436b-5p	CLIP-seq
MIRT1414225	hsa-miR-4466	CLIP-seq
MIRT1414231	hsa-miR-4733-5p	CLIP-seq
MIRT1414232	hsa-miR-500b	CLIP-seq
MIRT1414233	hsa-miR-501-5p	CLIP-seq
MIRT1414235	hsa-miR-513a-5p	CLIP-seq
MIRT2639256	hsa-miR-513c	CLIP-seq
MIRT2639257	hsa-miR-514b-5p	CLIP-seq
MIRT2346565	hsa-miR-520d-5p	CLIP-seq
MIRT2346566	hsa-miR-524-5p	CLIP-seq
MIRT2639258	hsa-miR-622	CLIP-seq
MIRT2639259	hsa-miR-659	CLIP-seq
MIRT1414240	hsa-miR-675	CLIP-seq
MIRT1414241	hsa-miR-767-3p	CLIP-seq
MIRT2639251	hsa-miR-1200	CLIP-seq
MIRT1414199	hsa-miR-1237	CLIP-seq
MIRT1414201	hsa-miR-1248	CLIP-seq
MIRT2124259	hsa-miR-128	CLIP-seq
MIRT1414202	hsa-miR-132	CLIP-seq
MIRT1414209	hsa-miR-212	CLIP-seq
MIRT1414211	hsa-miR-27a	CLIP-seq
MIRT1414212	hsa-miR-27b	CLIP-seq
MIRT2639252	hsa-miR-3613-3p	CLIP-seq
MIRT1414218	hsa-miR-362-5p	CLIP-seq
MIRT2639253	hsa-miR-371-5p	CLIP-seq
MIRT2639254	hsa-miR-371b-5p	CLIP-seq
MIRT1414221	hsa-miR-412	CLIP-seq
MIRT1414222	hsa-miR-4252	CLIP-seq
MIRT1414223	hsa-miR-4282	CLIP-seq
MIRT1414231	hsa-miR-4733-5p	CLIP-seq
MIRT1414232	hsa-miR-500b	CLIP-seq
MIRT1414233	hsa-miR-501-5p	CLIP-seq
MIRT1414235	hsa-miR-513a-5p	CLIP-seq
MIRT2639256	hsa-miR-513c	CLIP-seq
MIRT2639257	hsa-miR-514b-5p	CLIP-seq
MIRT2346565	hsa-miR-520d-5p	CLIP-seq
MIRT2346566	hsa-miR-524-5p	CLIP-seq
MIRT2639258	hsa-miR-622	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002181	Process	Cytoplasmic translation	IDA	8706699, 34314702
GO:0002218	Process	Activation of innate immune response	IBA
GO:0002218	Process	Activation of innate immune response	IDA	25636800
GO:0002218	Process	Activation of innate immune response	IEA
GO:0002218	Process	Activation of innate immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	8524823, 21931555, 31340999
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	29441066
GO:0003676	Function	Nucleic acid binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	NAS	10581243
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	27035970
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	14703513, 22394562, 22921120, 25636800, 25803835, 27103069, 29150432, 29441066, 31530866, 31662325, 31709703
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	21042276, 37403426
GO:0005515	Function	Protein binding	IPI	14743216, 15841462, 16281057, 16306936, 17568778, 17599067, 18307994, 18583960, 18636086, 18724357, 18818105, 19153231, 19380580, 19416887, 19419966, 19433799, 20098747, 20174559, 20562859, 20628368, 21813773, 21903422, 21931555, 21988832, 22000020, 22939624, 23096996, 23414517, 235
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	14703513
GO:0005737	Component	Cytoplasm	IDA	21813773, 29251827
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	21813773
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS	37403426
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	IDA	27103069
GO:0006606	Process	Protein import into nucleus	IDA	31340999
GO:0006954	Process	Inflammatory response	TAS	21042276
GO:0007249	Process	Canonical NF-kappaB signal transduction	TAS	10581243, 21042276
GO:0009299	Process	MRNA transcription	IDA	9891032
GO:0009615	Process	Response to virus	TAS	21042276
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010508	Process	Positive regulation of autophagy	IDA	28871090
GO:0010508	Process	Positive regulation of autophagy	IDA	28871090
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0016236	Process	Macroautophagy	TAS
GO:0016239	Process	Positive regulation of macroautophagy	IDA	27103069
GO:0016239	Process	Positive regulation of macroautophagy	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	25636800
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	25636800
GO:0019222	Process	Regulation of metabolic process	IEA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0019903	Function	Protein phosphatase binding	ISS
GO:0023019	Process	Signal transduction involved in regulation of gene expression	TAS	37403426
GO:0031669	Process	Cellular response to nutrient levels	IDA	12747827, 29750193
GO:0032008	Process	Positive regulation of TOR signaling	IEA
GO:0032479	Process	Regulation of type I interferon production	IDA	25636800
GO:0032480	Process	Negative regulation of type I interferon production	ISS
GO:0032481	Process	Positive regulation of type I interferon production	IBA
GO:0032481	Process	Positive regulation of type I interferon production	IDA	14703513, 18636090, 25636800, 32130408, 36603579
GO:0032481	Process	Positive regulation of type I interferon production	IDA	14703513, 22394562, 25636800, 29441066
GO:0032481	Process	Positive regulation of type I interferon production	TAS	21042276
GO:0032727	Process	Positive regulation of interferon-alpha production	IDA	16127453
GO:0032728	Process	Positive regulation of interferon-beta production	IDA	16127453
GO:0032728	Process	Positive regulation of interferon-beta production	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	TAS	16979567
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	25636800
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IDA	28747347
GO:0038202	Process	TORC1 signaling	IDA	12087098, 12747827, 29750193
GO:0038203	Process	TORC2 signaling	IDA	29424687
GO:0042802	Function	Identical protein binding	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEP	12761501
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	28147277
GO:0044565	Process	Dendritic cell proliferation	IEA
GO:0045087	Process	Innate immune response	IDA	25636800
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS	37403426
GO:0045087	Process	Innate immune response	TAS	21042276, 37403426
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16127453
GO:0045948	Process	Positive regulation of translational initiation	IDA	1922062, 29750193
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0051219	Function	Phosphoprotein binding	IPI	14530355
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	NAS	17142768, 21931631, 24622840
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	9094314
GO:0060337	Process	Type I interferon-mediated signaling pathway	NAS	17142768, 21931631
GO:0060340	Process	Positive regulation of type I interferon-mediated signaling pathway	IEA
GO:0061470	Process	T follicular helper cell differentiation	IDA	27135603
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22412986
GO:0098542	Process	Defense response to other organism	IEA
GO:0106310	Function	Protein serine kinase activity	IDA	22412986
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140374	Process	Antiviral innate immune response	IDA	9891032, 36603579
GO:0140374	Process	Antiviral innate immune response	IDA	14703513, 22394562
GO:0140896	Process	CGAS/STING signaling pathway	IDA	25636800
GO:0140896	Process	CGAS/STING signaling pathway	TAS	37403426
GO:0140896	Process	CGAS/STING signaling pathway	TAS	37403426
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	TAS	37403426
GO:1902554	Component	Serine/threonine protein kinase complex	NAS	17142768, 21931631, 24622840
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	31530866
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	29150432
GO:1904417	Process	Positive regulation of xenophagy	IEA
GO:1904515	Process	Positive regulation of TORC2 signaling	IEA
GO:1904515	Process	Positive regulation of TORC2 signaling	ISS

Other IDs

• MIM: 604834
• HGNC: 11584
• e!Ensembl: ENSG00000183735

Protein

• UniProt ID: Q9UHD2
• Protein name: Serine/threonine-protein kinase TBK1 (EC 2.7.11.1) (NF-kappa-B-activating kinase) (T2K) (TANK-binding kinase 1)
• Protein function: Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents (PubMed:10581243, PubMed:11839743, PubMed:12692549, PubMed:12702806, PubMed:14703513, PubMed:15367631, PubMed:15485837, PubMed:18583960,
• PDB: 4EFO, 4EUT, 4EUU, 4IM0, 4IM2, 4IM3, 4IW0, 4IWO, 4IWP, 4IWQ, 5EOA, 5EOF, 5EP6, 5W5V, 6BNY, 6BOD, 6BOE, 6CQ0, 6CQ4, 6CQ5, 6NT9, 6O8B, 6RSR, 6RST, 6RSU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	9 → 299	Protein kinase domain	Domain
  PF18396	TBK1_ULD	308 → 395	TANK binding kinase 1 ubiquitin-like domain	Domain
  PF18394	TBK1_CCD1	400 → 655	TANK-binding kinase 1 coiled-coil domain 1	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous with higher expression in testis. Expressed in the ganglion cells, nerve fiber layer and microvasculature of the retina. {ECO:0000269|PubMed:10783893, ECO:0000269|PubMed:21447600}.
• Sequence:

  MQSTSNHLWLLSDILGQGATANVFRGRHKKTGDLFAIKVFNNISFLRPVDVQMREFEVLK
  KLNHKNIVKLFAIEEETTTRHKVLIMEFCPCGSLYTVLEEPSNAYGLPESEFLIVLRDVV
  GGMNHLRENGIVHRDIKPGNIMRVIGEDGQSVYKLTDFGAARELEDDEQFVSLYGTEEYL
  HPDMYERAVLRKDHQKKYGATVDLWSIGVTFYHAATGSLPFRPFEGPRRNKEVMYKIITG
  KPSGAISGVQKAENGPIDWSGDMPVSCSLSRGLQVLLTPVLANILEADQEKCWGFDQFFA
  ETSDILHRMVIHVFSLQQMTAHKIYIHSYNTATIFHELVYKQTKIISSNQELIYEGRRLV
  LEPGRLAQHFPKTTEENPIFVVSREPLNTIGLIYEKISLPKVHPRYDLDGDASMAKAITG
  VVCYACRIASTLLLYQELMRKGIRWLIELIKDDYNETVHKKTEVVITLDFCIRNIEKTVK
  VYEKLMKINLEAAELGEISDIHTKLLRLSSSQGTIETSLQDIDSRLSPGGSLADAWAHQE
  GTHPKDRNVEKLQVLLNCMTEIYYQFKKDKAERRLAYNEEQIHKFDKQKLYYHATKAMTH
  FTDECVKKYEAFLNKSEEWIRKMLHLRKQLLSLTNQCFDIEEEVSKYQEYTNELQETLPQ
  KMFTASSGIKHTMTPIYPSSNTLVEMTLGMKKLKEEMEGVVKELAENNHILERFGSLTMD
  GGLRNVDCL

• Sequence length: 729

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
Amyotrophic lateral sclerosis	Pathogenic; Likely pathogenic	rs1592362719, rs1341055534, rs1402092579	RCV001843550 RCV003333118 RCV001843556	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autoinflammation with arthritis and vasculitis	Pathogenic	rs769588220	RCV004601430	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corticobasal syndrome	Likely pathogenic	rs1565825132	RCV000768401	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	Pathogenic	rs1555204731, rs1341055534	RCV001824857 RCV001196463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Likely pathogenic; Pathogenic	rs765106259, rs2136087722, rs2136088420, rs757203783, rs2136078402, rs1279619378, rs1178717934, rs2136088227, rs758357594, rs2136088934, rs2040932099, rs2136079548, rs2040816609, rs2136088954, rs200879808, rs2539537276, rs1555201919, rs1280163869, rs2539511024, rs876657404, rs876657405, rs876657406, rs755950225, rs767898276, rs748112833, rs2539537514, rs2539525878, rs1461457058, rs369620088, rs2539534855, rs2539503647, rs2539489004, rs2539519111, rs2539520026, rs142030898, rs2539523784, rs2539493394, rs1476919390, rs2539511036, rs2539537579, rs2539537429, rs1565824978, rs2539510971, rs2539534664, rs2539482429, rs2539476696, rs1565814529, rs1555204731, rs1565814492, rs1328949478, rs1592362719, rs1592350883, rs1592350887, rs1341055534, rs1402092579, rs1284582102, rs769588220	RCV001328679 RCV001386793 RCV001388492 RCV001825077 RCV002039154 RCV001892768 RCV002019738 RCV001874314 RCV001901252 RCV002000195 RCV002037825 RCV001970049 RCV001901321 RCV001972841 RCV002272614 RCV002283871 RCV002471876 RCV003058387 RCV003062524 RCV002511171 RCV000185595 RCV000185596 RCV000185597 RCV000185598 RCV000185599 RCV000185600 RCV002820163 RCV002834874 RCV002863152 RCV002863800 RCV002847242 RCV002927416 RCV002933815 RCV003026167 RCV003019974 RCV001859503 RCV003391164 RCV003590235 RCV003589495 RCV003590404 RCV003754706 RCV003754704 RCV003754685 RCV003752663 RCV003752758 RCV003753864 RCV003994628 RCV003994799 RCV000652982 RCV000703742 RCV002536579 RCV000797764 RCV000995894 RCV000995895 RCV000995897 RCV000995659 RCV001095423 RCV001291944	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Herpes simplex encephalitis, susceptibility to, 1	Pathogenic	rs1555204731	RCV001824857	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor neuron disease	Pathogenic	rs142030898	RCV000492391	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Pathogenic	rs1341055534	RCV005912226	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary open angle glaucoma	Pathogenic	rs1555204731	RCV001824857	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary progressive non fluent aphasia	Likely pathogenic	rs1565825132	RCV000768401	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TBK1-related disorder	Pathogenic; Likely pathogenic	rs1555204731, rs1328949478, rs1592362719, rs1402092579	RCV003892491 RCV004745579 RCV003411753 RCV003396578	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma 1, open angle, P	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia 8	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely 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
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive spasticity	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe SARS-CoV-2 infection, susceptibility to	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic hemiparesis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Susceptibility to severe COVID-19	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30504235		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	29864423		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30549411, 31824497, 39753133	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	29146049		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	31824497		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25700176, 25803835, 25943890, 26268526, 26350399, 26476236, 26581300, 26674655, 26804609, 27156075, 27211305, 27247382, 27260353, 27538057, 27693724, 27892983, 27939697, 28008748, 28148298, 28456633, 28877469, 29103041, 29137817, 29146049, 29149916, 29349657, 29398122, 30017954, 30033073, 30146158, 30193106, 30534373, 30672142, 30939964, 31000212, 31039129, 31118040, 31498468, 31748271		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	25700176		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25700176, 25803835, 25943890, 26365381, 26581300, 26674655, 27156075, 27247382, 28008748, 28822984, 28877469, 29146049, 30033073, 30193106, 31118040, 31160356, 31244341, 31362587, 31748271, 31932031, 32413959, 32980182, 33548116, 33709219, 34099552, 34518945, 34800171, 37133535, 37208601, 37723585	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GENOMICS_ENGLAND_DG	26581300, 27260353		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASCAT_DG	27455348, 29566793		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	25803835, 30033073, 31748271	Associate	★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	26350399		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	26350399, 27892983		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	27939697, 29398122		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25833382, 29180468, 30105668		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30009417		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31697998		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	26674655, 31160356, 35964197	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	25606824, 26432890, 29559975, 29673738, 31718798		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	26674655	Associate	★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	BEFREE	26674655		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28819387		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	31987900	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	36449399	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24062311, 24449872, 24487029, 30790681, 30912981		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24449872	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39185402	Stimulate	★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19958770	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25100852, 31730575, 33006365, 37043475	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28819387		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23209807, 23836654, 28716898		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25833382	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	38211588	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	29137817		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	29137817		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26498252		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	21618603	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	40713844	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	36165492	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24752990, 31869529, 35637944	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	26034202, 27249321		★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	31160356	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	25803835, 26674655		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	25803835, 26674655, 29859640, 30549411, 31160356, 33061333, 34099552, 37330543	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	36030554	Stimulate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28716898		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28716898	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30791439, 31672578		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30791439, 31672578		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28683283	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28683283		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyscalculia	Dyscalculia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	22851595		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	36044516	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19558549	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28683283		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	28683283	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29251796		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31821710		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	25943890, 26476236, 26581300, 26674655, 27144467, 27156075, 27211305, 27892983, 28008748, 28229125, 29103041, 29137817, 29146049, 29349657, 30146158, 30193106, 30534373, 30672142, 30739198, 30939964, 31039129, 31498468		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	26581300, 26674655, 27156075, 28008748, 29146049, 30193106, 31160356, 31244341, 32413959, 32843152, 32980182, 34099552, 34518945, 34561610, 34800171, 35964197, 40713844	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4	Frontotemporal Dementia With Or Without Amyotrophic Lateral Sclerosis	CLINVAR_DG	25700176, 25803835		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4	Frontotemporal Dementia With Or Without Amyotrophic Lateral Sclerosis	UNIPROT_DG	25803835, 25943890		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4	Frontotemporal Dementia With Or Without Amyotrophic Lateral Sclerosis	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4	Frontotemporal Dementia With Or Without Amyotrophic Lateral Sclerosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	ORPHANET_DG	25803835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia with motor neuron disease	Frontotemporal Dementia With Motor Neuron Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	BEFREE	31244341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	25943890		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	GENOMICS_ENGLAND_DG	26581300, 27260353		★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	21447600, 23286385, 24699864, 25284765, 27620379, 28025332, 29845210		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	21447600, 23421332, 24699864, 27620379, 28282485, 28984711, 31987900, 33548116	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	18307994, 21310917, 25284765, 25414181, 27881886	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	LHGDN	18307994		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	18307994, 23286385, 23669351, 25284765, 31238079		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33741083	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	29864423		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	26034202, 27249321		★☆☆☆☆ Found in Text Mining only
Hepatic Adenomas Familial	Hepatic adenoma	Pubtator	36769169	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31810986	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	32159970	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	24860242	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29103041		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	28683283	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	31810986	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	30549411		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27991934, 30504235		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	31996268	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19958770		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	27620379, 30033073, 32413959, 36223668, 36769169, 37043475	Associate	★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	21447600, 23286385, 23421332, 24699864, 25284765, 26376340, 27211305, 27693724, 28025332, 28984711, 29775216, 31238079		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23836654, 24468793, 26656453, 28716898	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	30205046		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36309313	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	22127978		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37991737	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24062311, 24449872, 24487029, 30790681, 30912981		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31810986		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23209807, 23836654, 28716898		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30105668, 30938713		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24027431		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27145266		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28819387		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16537515, 17018274, 17018283, 19847166, 21329883, 24752990, 26432890, 28455392, 28716898, 29218456, 30223576, 30791439, 31810986		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29425491		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24962318, 28455392, 30627776		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	24962318	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory Disorders	Memory disorders	Pubtator	29146049	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28683283		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	28683283	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34099552	Associate	★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	25943890, 28089114		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor Neuron Disease	Motor Neuron Disease	CLINVAR_DG	28089114		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor Neuron Disease	Motor neuron disease	Pubtator	28089114, 31244341, 37133535	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelofibrosis	Myelofibrosis	BEFREE	31173970		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16537515, 17018283, 24747441, 26416897, 30912981, 31101760		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27247382, 27620379, 29859640, 34800171, 40713844	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27247382, 27620379, 31690171		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28683283, 31745210		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23209807, 24752990, 31406474, 31521695		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24368730, 28237848, 28550108, 30270002		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28683283	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26584294		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30105668, 30938713		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30105668		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24752990, 40315568	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	36044516	Associate	★☆☆☆☆ Found in Text Mining only
Papillon-Lefevre Disease	Papillon-Lefevre Disease	BEFREE	31117107		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26268526		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26365381	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	31160356	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	30938713		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	26476236, 26581300, 26674655, 27156075, 27892983, 28008748, 29349657, 30672142		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	25803835, 26674655		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	31173970		★☆☆☆☆ Found in Text Mining only
Primary Progressive Nonfluent Aphasia	Nonfluent Aphasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	29137817		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	29137817		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24027431		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	20714117		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	31486084		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26498252	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30988282		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	32159970	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31810986		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	40341181	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	26772203		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	26772203	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Type 7	Spastic Paraplegia	BEFREE	31117107		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28683283		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27145266		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27145266	Associate	★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	35842134	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29673738		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36988258	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30790681, 31662325		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31662325	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	34010983	Associate	★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	LHGDN	15367631		★☆☆☆☆ Found in Text Mining only