TLR3 (toll like receptor 3)

Gene

• Entrez ID: 7098
• Gene name: Toll like receptor 3
• Gene symbol: TLR3
• Synonyms (NCBI Gene): CD283, IIAE2, IMD83
• Chromosome: 4
• Chromosome location: 4q35.1
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35311343	C>G	Likely-benign, risk-factor	Missense variant, coding sequence variant
rs121434431	C>T	Risk-factor, uncertain-significance	Missense variant, coding sequence variant
rs199768900	G>A	Risk-factor	Coding sequence variant, missense variant
rs768091235	T>C	Risk-factor	Coding sequence variant, missense variant
rs1244010954	G>A,T	Risk-factor	Missense variant, coding sequence variant
rs1280549921	G>A	Risk-factor, uncertain-significance	Coding sequence variant, missense variant
rs1554064929	G>T	Risk-factor	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022528	hsa-miR-124-3p	Microarray	18668037
MIRT438603	hsa-miR-758-3p	Luciferase reporter assay, Western blot, qRT-PCR	25008898
MIRT438603	hsa-miR-758-3p	Luciferase reporter assay, Western blot, qRT-PCR	25008898
MIRT564104	hsa-miR-548e-5p	PAR-CLIP	20371350
MIRT564103	hsa-miR-3662	PAR-CLIP	20371350
MIRT564102	hsa-miR-365a-3p	PAR-CLIP	20371350
MIRT564101	hsa-miR-365b-3p	PAR-CLIP	20371350
MIRT564100	hsa-miR-3163	PAR-CLIP	20371350
MIRT564099	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT564098	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT564097	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT564096	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT564095	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT564094	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT564093	hsa-miR-137	PAR-CLIP	20371350
MIRT734999	hsa-miR-148a-5p	Luciferase reporter assay, Western blotting, qRT-PCR, ELISA	31947624
MIRT736439	hsa-miR-491-3p	qRT-PCR, Flow cytometry	33679688
MIRT736873	hsa-miR-155-3p	Microarray, Immunofluorescence, qRT-PCR	33291448
MIRT564104	hsa-miR-548e-5p	PAR-CLIP	20371350
MIRT564103	hsa-miR-3662	PAR-CLIP	20371350
MIRT564102	hsa-miR-365a-3p	PAR-CLIP	20371350
MIRT564101	hsa-miR-365b-3p	PAR-CLIP	20371350
MIRT564100	hsa-miR-3163	PAR-CLIP	20371350
MIRT564099	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT564098	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT564097	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT564096	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT564095	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT564094	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT564093	hsa-miR-137	PAR-CLIP	20371350

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Repression	22310660
IRF3	Unknown	22208359
IRF8	Repression	21220691
NFKB1	Activation	20658750
NFKB1	Repression	16423052
RELA	Activation	20658750
RELA	Repression	16423052
STAT1	Activation	16628196

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0000165	Process	MAPK cascade	IEA
GO:0001774	Process	Microglial cell activation	IEA
GO:0002224	Process	Toll-like receptor signaling pathway	IDA	12471095
GO:0002224	Process	Toll-like receptor signaling pathway	IDA	18172197
GO:0002224	Process	Toll-like receptor signaling pathway	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002684	Process	Positive regulation of immune system process	IEA
GO:0002730	Process	Regulation of dendritic cell cytokine production	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003725	Function	Double-stranded RNA binding	IBA
GO:0003725	Function	Double-stranded RNA binding	IDA	16111635
GO:0003725	Function	Double-stranded RNA binding	IEA
GO:0003725	Function	Double-stranded RNA binding	NAS	12054664
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	12471095
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	NAS	12054664
GO:0005515	Function	Protein binding	IPI	16858407, 25736436, 33432245
GO:0005737	Component	Cytoplasm	IDA	19740627
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	17982077
GO:0005769	Component	Early endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	27830702
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9435236
GO:0006952	Process	Defense response	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006972	Process	Hyperosmotic response	NAS	12054664
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	9435236, 10426995
GO:0007250	Process	Activation of NF-kappaB-inducing kinase activity	NAS	12054664
GO:0007254	Process	JNK cascade	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0009597	Process	Detection of virus	NAS	12054664
GO:0009615	Process	Response to virus	IEA
GO:0009986	Component	Cell surface	IDA	19740627
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	ISS	37158982
GO:0010008	Component	Endosome membrane	TAS
GO:0010628	Process	Positive regulation of gene expression	IMP	23817958, 25754930
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	12054664
GO:0032481	Process	Positive regulation of type I interferon production	IEA
GO:0032722	Process	Positive regulation of chemokine production	IDA	19740627
GO:0032722	Process	Positive regulation of chemokine production	IEA
GO:0032722	Process	Positive regulation of chemokine production	IEA
GO:0032727	Process	Positive regulation of interferon-alpha production	IDA	16286015
GO:0032728	Process	Positive regulation of interferon-beta production	IDA	16286015
GO:0032728	Process	Positive regulation of interferon-beta production	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	IMP	12054664
GO:0032728	Process	Positive regulation of interferon-beta production	ISS
GO:0032729	Process	Positive regulation of type II interferon production	IDA	16286015
GO:0032735	Process	Positive regulation of interleukin-12 production	IEA
GO:0032735	Process	Positive regulation of interleukin-12 production	ISS
GO:0032755	Process	Positive regulation of interleukin-6 production	IDA	19740627
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	17128265
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0034138	Process	Toll-like receptor 3 signaling pathway	IDA	12471095
GO:0034138	Process	Toll-like receptor 3 signaling pathway	IDA	17128265, 18172197
GO:0034139	Process	Regulation of toll-like receptor 3 signaling pathway	IDA	37158982
GO:0034343	Process	Type III interferon production	IEA
GO:0034346	Process	Positive regulation of type III interferon production	IEA
GO:0035458	Process	Cellular response to interferon-beta	IEA
GO:0036020	Component	Endolysosome membrane	TAS
GO:0038023	Function	Signaling receptor activity	IBA
GO:0038023	Function	Signaling receptor activity	TAS	10426995
GO:0038187	Function	Pattern recognition receptor activity	IDA	16720699, 17128265
GO:0038187	Function	Pattern recognition receptor activity	IEA
GO:0042742	Process	Defense response to bacterium	TAS	10426995
GO:0042802	Function	Identical protein binding	IPI	18172197, 23155421, 25217833
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	19740627
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISS
GO:0043330	Process	Response to exogenous dsRNA	IDA	21266579
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0043331	Process	Response to dsRNA	IBA
GO:0043331	Process	Response to dsRNA	IEA
GO:0044389	Function	Ubiquitin-like protein ligase binding	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS	15356140
GO:0045671	Process	Negative regulation of osteoclast differentiation	NAS	12133979
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046330	Process	Positive regulation of JNK cascade	IDA	27830702
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0050729	Process	Positive regulation of inflammatory response	IDA	19740627
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	IEP	32634389
GO:0051607	Process	Defense response to virus	TAS	15356140
GO:0060907	Process	Positive regulation of macrophage cytokine production	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:0071360	Process	Cellular response to exogenous dsRNA	IEA
GO:0071360	Process	Cellular response to exogenous dsRNA	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0090594	Process	Inflammatory response to wounding	IDA	27830702
GO:0090594	Process	Inflammatory response to wounding	IDA	27830702
GO:0090594	Process	Inflammatory response to wounding	IEA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IDA	21737330
GO:0097527	Process	Necroptotic signaling pathway	IDA	21737330
GO:0098586	Process	Cellular response to virus	IEA
GO:0141124	Process	Intracellular signaling cassette	IEA
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	IDA	8654373
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	IEA

Other IDs

• MIM: 603029
• HGNC: 11849
• e!Ensembl: ENSG00000164342

Protein

• UniProt ID: O15455
• Protein name: Toll-like receptor 3 (CD antigen CD283)
• Protein function: Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR3 is a nucleotide-sensing TLR which is activated by
• PDB: 1ZIW, 2A0Z, 2MK9, 2MKA, 3ULU, 3ULV, 5GS0, 7C76, 7WV3, 7WV4, 7WV5, 7WVE, 7WVF, 7WVJ, 8AR1, 8YHT, 8YHU, 9LSH, 9LSI, 9LSJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	51 → 111	Leucine rich repeat	Repeat
  PF13516	LRR_6	195 → 210	Leucine Rich repeat	Repeat
  PF13855	LRR_8	248 → 302	Leucine rich repeat	Repeat
  PF13855	LRR_8	274 → 332	Leucine rich repeat	Repeat
  PF13855	LRR_8	562 → 620	Leucine rich repeat	Repeat
  PF13855	LRR_8	586 → 647	Leucine rich repeat	Repeat
  PF17968	Tlr3_TMD	698 → 730	Toll-like receptor 3 trans-membrane domain	Domain
  PF01582	TIR	755 → 897	TIR domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at high level in placenta and pancreas. Also detected in CD11c+ immature dendritic cells. Only expressed in dendritic cells and not in other leukocytes, including monocyte precursors. TLR3 is the TLR that is expressed most st
• Sequence:

  MRQTLPCIYFWGGLLPFGMLCASSTTKCTVSHEVADCSHLKLTQVPDDLPTNITVLNLTH
  NQLRRLPAANFTRYSQLTSLDVGFNTISKLEPELCQKLPMLKVLNLQHNELSQLSDKTFA
  FCTNLTELHLMSNSIQKIKNNPFVKQKNLITLDLSHNGLSSTKLGTQVQLENLQELLLSN
  NKIQALKSEELDIFANSSLKKLELSSNQIKEFSPGCFHAIGRLFGLFLNNVQLGPSLTEK
  LCLELANTSIRNLSLSNSQLSTTSNTTFLGLKWTNLTMLDLSYNNLNVVGNDSFAWLPQL
  EYFFLEYNNIQHLFSHSLHGLFNVRYLNLKRSFTKQSISLASLPKIDDFSFQWLKCLEHL
  NMEDNDIPGIKSNMFTGLINLKYLSLSNSFTSLRTLTNETFVSLAHSPLHILNLTKNKIS
  KIESDAFSWLGHLEVLDLGLNEIGQELTGQEWRGLENIFEIYLSYNKYLQLTRNSFALVP
  SLQRLMLRRVALKNVDSSPSPFQPLRNLTILDLSNNNIANINDDMLEGLEKLEILDLQHN
  NLARLWKHANPGGPIYFLKGLSHLHILNLESNGFDEIPVEVFKDLFELKIIDLGLNNLNT
  LPASVFNNQVSLKSLNLQKNLITSVEKKVFGPAFRNLTELDMRFNPFDCTCESIAWFVNW
  INETHTNIPELSSHYLCNTPPHYHGFPVRLFDTSSCKDSAPFELFFMINTSILLIFIFIV
  LLIHFEGWRISFYWNVSVHRVLGFKEIDRQTEQFEYAAYIIHAYKDKDWVWEHFSSMEKE
  DQSLKFCLEERDFEAGVFELEAIVNSIKRSRKIIFVITHHLLKDPLCKRFKVHHAVQQAI
  EQNLDSIILVFLEEIPDYKLNHALCLRRGMFKSHCILNWPVQKERIGAFRHKLQVALGSK
  NSVH

• Sequence length: 904

Pathways

KEGG:

Necroptosis
Toll-like receptor signaling pathway
Hepatitis C
Hepatitis B
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Coronavirus disease - COVID-19

Reactome:

Trafficking and processing of endosomal TLR
Toll Like Receptor 3 (TLR3) Cascade
TICAM1, RIP1-mediated IKK complex recruitment
RIP-mediated NFkB activation via ZBP1
TLR3 deficiency - HSE
UNC93B1 deficiency - HSE
TICAM1 deficiency - HSE
TRAF3 deficiency - HSE
TLR3-mediated TICAM1-dependent programmed cell death
TICAM1-dependent activation of IRF3/IRF7
TICAM1,TRAF6-dependent induction of TAK1 complex

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs1244010954	-
Cervical cancer	Likely benign	rs144596374	RCV005912714
Herpes simplex encephalitis, susceptibility to, 1	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs2099302516, rs1450040301, rs1443920234, rs757464669, rs202066722, rs1218359456, rs142813217, rs759740878, rs2099302537, rs202236935, rs1318905138, rs752833190, rs2099303769, rs141634515, rs757158320, rs1254995294, rs777430960, rs748458395, rs2099302499, rs2150067701, rs2099303726, rs899704593, rs778686045, rs750639735, rs192262541, rs146166844, rs149945790, rs144596374, rs1377156808, rs757517639, rs2150068194, rs781084129, rs369957478, rs139854420, rs745694858, rs776591694, rs772360575, rs200785357, rs145921610, rs374422592, rs1232968295, rs200609786, rs140176180, rs201726068, rs1404118242, rs2150067659, rs1287228625, rs762762392, rs2150066346, rs748822809, rs548804031, rs2150068333, rs151044075, rs3775296, rs147431766, rs753482575, rs759638706, rs754548817, rs2150068135, rs5743319, rs749653770, rs763457697, rs539192081, rs1407442968, rs774639535, rs2150068142, rs932166074, rs757662803, rs2150068016, rs73873710, rs772808268, rs2150068051, rs776938784, rs377028149, rs2150067766, rs2099304094, rs758310298, rs371978453, rs1028461434, rs2150068353, rs2150067836, rs150769655, rs2150066810, rs1283056640, rs559783546, rs1193598790, rs781640627, rs759819677, rs770261956, rs766617542, rs373400665, rs2150067871, rs555810983, rs1462932930, rs2150066304, rs199658443, rs772992927, rs754224548, rs776866759, rs574415152, rs780632564, rs376729684, rs746858510, rs768368875, rs763487767, rs143625567, rs2150066315, rs1441935850, rs370090850, rs201480574, rs367695889, rs2150068174, rs2150068080, rs147873871, rs747344213, rs948943852, rs375996512, rs1383149614, rs764668957, rs545122782, rs529059095, rs776864778, rs1426754278, rs779960687, rs2478226707, rs2478228543, rs1230106817, rs2478225658, rs1005040113, rs2478215651, rs1203831442, rs749907488, rs2099302517, rs754449294, rs764748873, rs1340518020, rs755127843, rs774476397, rs757764376, rs1472699238, rs2099303922, rs760734845, rs2478228154, rs1396484974, rs143330461, rs2099303915, rs1226246023, rs781360064, rs774023990, rs932524368, rs574038103, rs1276480303, rs372290492, rs1369271006, rs565699355, rs755520753, rs145252794, rs1561372085, rs368882892, rs746688951, rs775850017, rs760031786, rs1221000109, rs2099304078, rs757231763, rs1426283613, rs1252519171, rs2150068129, rs1329487142, rs780051344, rs2478225133, rs750608308, rs750424441, rs991873679, rs2099303889, rs777541344, rs2478227722, rs780744847, rs2478211111, rs2478210943, rs773807808, rs769509200, rs2478227600, rs2478210355, rs1244010954, rs762415032, rs2478215654, rs757922812, rs2150067869, rs2478229011, rs2099302549, rs2478227020, rs1307085864, rs1248175611, rs121434431, rs2478215346, rs1331595848, rs2478229336, rs2099303874, rs2478228953, rs2478210921, rs2478227798, rs2099303732, rs764584083, rs146846379, rs2478215576, rs747450592, rs764860383, rs1376137437, rs2478229267, rs145104245, rs1259167195, rs754394157, rs765417819, rs2478228945, rs779727082, rs1229223752, rs757846446, rs767185774, rs1280003005, rs1007881798, rs2150068041, rs778120843, rs1471779820, rs753810019, rs2099302567, rs2099303755, rs1446816702, rs2478232138, rs2478226776, rs2478225692, rs773578260, rs2478215631, rs2478225971, rs2478215715, rs766617165, rs775443943, rs2478211190, rs751999151, rs2478225187, rs780502519, rs2478225031, rs1304264685, rs2478228654, rs1225495454, rs2478226789, rs760876998, rs1377353903, rs745448491, rs2478226089, rs752393845, rs2478225728, rs761905609, rs746908885, rs1341240315, rs1266773017, rs750233576, rs770237403, rs1038210338, rs1267396880, rs2478224795, rs2099303714, rs756002361, rs752561623, rs1279991080, rs1205194103, rs763756287, rs776400293, rs377509605, rs1271155817, rs765876312, rs760093163, rs2478211090, rs929907117, rs2478229162, rs376868309, rs747573478, rs907295276, rs3775290, rs1554064947, rs199539539, rs35617964, rs140712645, rs5743317, rs73025939, rs5743318, rs75290011, rs35111588, rs199768900, rs1280549921, rs35311343, rs3775291, rs113654222, rs554658931, rs781622881, rs1362142505, rs115677523, rs112077022, rs369886993, rs144019953, rs1460329308, rs35140061, rs192016427, rs745682135, rs1561372514, rs912144507, rs143307508, rs772953712, rs762922535, rs967601262, rs1219003162, rs1579731157, rs144550375, rs1579731513, rs1051348300, rs184426724, rs150315296, rs200214332, rs373118024, rs759137034, rs371056976, rs5743311, rs116269970, rs149602022, rs148445556, rs149490656, rs5743320, rs145303119, rs201222071, rs571300094, rs147829071, rs752550083, rs764010322, rs773691155, rs953898407, rs1579728263, rs755720044, rs2099303697, rs5743316, rs371800977, rs138548725, rs2099303744, rs2099303816, rs760275329, rs2099303904, rs748141748, rs201540925, rs368223739, rs267600111, rs2099303771, rs1312965236, rs78758719, rs1327804552, rs757686834, rs1028373125, rs2099304099, rs752889035, rs2099302550, rs1248928733, rs2099302923, rs1263661319, rs540959112, rs781701275, rs2099304112, rs947295812, rs2099302564, rs2099302909, rs1399238369, rs2099303728, rs149184129, rs2099303884, rs1476300453, rs2099303903, rs779435031, rs200662318, rs745646456	RCV001318314 RCV001318437 RCV001319922 RCV001317246 RCV001319374 RCV001321841 RCV001325957 RCV001317657 RCV001337790 RCV001342311 RCV001346902 RCV001341120 RCV001344910 RCV001339110 RCV001349773 RCV001338767 RCV001338082 RCV001346126 RCV001359457 RCV001360541 RCV001364542 RCV001359231 RCV001361893 RCV001371177 RCV001394987 RCV001405503 RCV001403795 RCV001418428 RCV001397662 RCV001403446 RCV001403865 RCV001417269 RCV001425028 RCV001422450 RCV001433444 RCV001438539 RCV001447907 RCV001439908 RCV001444037 RCV001435434 RCV001432884 RCV001447455 RCV001456547 RCV001455117 RCV001470480 RCV001476637 RCV001466426 RCV001474349 RCV001485473 RCV001482172 RCV001495456 RCV001494010 RCV001485362 RCV001503047 RCV001484948 RCV001515649 RCV001523448 RCV002568915 RCV001900854 RCV001874031 RCV001989541 RCV001902650 RCV002038889 RCV001984274 RCV001872571 RCV001894252 RCV001928171 RCV002018032 RCV001889315 RCV002023265 RCV001935682 RCV001958538 RCV001911018 RCV001969554 RCV002036985 RCV001901913 RCV001896459 RCV002007794 RCV001930085 RCV001930096 RCV002028990 RCV002027355 RCV001937926 RCV002025872 RCV001877217 RCV001916050 RCV002048042 RCV002029715 RCV001913010 RCV002033274 RCV001883204 RCV001914556 RCV001967276 RCV001886061 RCV002008763 RCV001889642 RCV001944238 RCV001985268 RCV002007690 RCV001963608 RCV001876455 RCV001962810 RCV001957627 RCV001963537 RCV002165172 RCV002170671 RCV002171495 RCV002152669 RCV002143497 RCV002185971 RCV002111686 RCV002086059 RCV002160670 RCV002215785 RCV002205492 RCV002161621 RCV002194486 RCV002071138 RCV002165037 RCV002088878 RCV002101589 RCV002100728 RCV002114081 RCV002106238 RCV002170052 RCV002111582 RCV002147162 RCV002217214 RCV002129527 RCV002116147 RCV002301563 RCV002301857 RCV002301858 RCV002304731 RCV002299041 RCV002299881 RCV002302267 RCV003064898 RCV003068628 RCV003068837 RCV003074819 RCV003077665 RCV003069349 RCV003067728 RCV003085924 RCV003085787 RCV003076102 RCV003092851 RCV002581812 RCV003090159 RCV003086560 RCV003080809 RCV003092474 RCV002620498 RCV002638574 RCV002647882 RCV002623878 RCV003118384 RCV003120002 RCV002574047 RCV002600172 RCV002638704 RCV002658559 RCV002700485 RCV002705248 RCV002720028 RCV002715185 RCV002720817 RCV002727112 RCV002774847 RCV002711329 RCV002712149 RCV002761169 RCV002736589 RCV002735910 RCV002750150 RCV002760863 RCV002766356 RCV002755965 RCV002805524 RCV002761639 RCV002806212 RCV002756219 RCV002770260 RCV002824023 RCV002829979 RCV002811668 RCV002871676 RCV002903084 RCV002913927 RCV002917306 RCV002903376 RCV002927158 RCV002932178 RCV002962107 RCV002943809 RCV002970937 RCV002975481 RCV002967440 RCV003008114 RCV003016607 RCV003009942 RCV003016321 RCV003019847 RCV003028773 RCV003017265 RCV003026294 RCV000647016 RCV003038013 RCV003042491 RCV003024948 RCV003051722 RCV003033062 RCV003052180 RCV003048596 RCV003048652 RCV003603139 RCV003603147 RCV003497980 RCV003779920 RCV003498003 RCV003498008 RCV003498830 RCV003499039 RCV003498923 RCV003499255 RCV003499256 RCV003499712 RCV003499815 RCV003499992 RCV003497400 RCV003497568 RCV003499978 RCV003497545 RCV003497586 RCV003497757 RCV003498565 RCV003497795 RCV003498355 RCV003499357 RCV003499463 RCV003498677 RCV003498740 RCV003499352 RCV003499452 RCV003603221 RCV003603237 RCV003603262 RCV003603402 RCV003603453 RCV003604023 RCV003604066 RCV003604152 RCV003604211 RCV003604390 RCV003604430 RCV003604463 RCV003604643 RCV003604647 RCV003604497 RCV003604853 RCV003604777 RCV003602623 RCV003605011 RCV003605058 RCV003602709 RCV003602748 RCV003603710 RCV003603692 RCV003603763 RCV003603765 RCV003603958 RCV003604584 RCV003604583 RCV003604596 RCV003813951 RCV003810673 RCV003832788 RCV003839022 RCV003838030 RCV003829961 RCV003831635 RCV003847047 RCV003865741 RCV003855081 RCV003868115 RCV003861890 RCV003864431 RCV003873093 RCV003871217 RCV003881182 RCV003870062 RCV003877123 RCV001514931 RCV000540763 RCV000553385 RCV000524712 RCV000548139 RCV001853712 RCV000554243 RCV000547764 RCV000528448 RCV000541647 RCV000528537 RCV001440832 RCV000691555 RCV000647014 RCV001519768 RCV001484660 RCV000647019 RCV000647013 RCV000647023 RCV000647030 RCV000647021 RCV000647022 RCV000647024 RCV000647015 RCV000647032 RCV000647017 RCV000691916 RCV000688142 RCV000692710 RCV000702041 RCV000684924 RCV000690308 RCV000801422 RCV000824342 RCV000812780 RCV000817148 RCV000798202 RCV000813289 RCV000792842 RCV000800885 RCV000792859 RCV000794530 RCV000797613 RCV000794791 RCV000808130 RCV000802044 RCV000812537 RCV000968899 RCV000964978 RCV000886990 RCV000887798 RCV001443070 RCV000885249 RCV000923258 RCV000924250 RCV000921403 RCV000941513 RCV001426159 RCV002547197 RCV001469372 RCV000982316 RCV001410960 RCV000976275 RCV001056449 RCV001046126 RCV001035573 RCV001052136 RCV001067331 RCV001050976 RCV001049024 RCV001041562 RCV001048903 RCV001040608 RCV001046124 RCV001056644 RCV001045314 RCV001047929 RCV001063073 RCV001062497 RCV003087782 RCV001217990 RCV001224743 RCV001217714 RCV001205518 RCV001213666 RCV001207347 RCV001206683 RCV001228863 RCV001237595 RCV001228496 RCV001225905 RCV001231953 RCV001227356 RCV001234605 RCV001227082 RCV001247828 RCV001308872 RCV001301512 RCV001298516 RCV001294312 RCV001309850 RCV001306817 RCV001302277 RCV001309905 RCV001297890 RCV001307483 RCV001298372
Immunodeficiency 83, susceptibility to viral infections	Benign; Uncertain significance; risk factor; Likely benign; Conflicting classifications of pathogenicity	rs147431766, rs753482575, rs2150068111, rs757764376, rs121434431, rs772808268, rs2478228911, rs1554064929, rs199768900, rs768091235, rs35311343, rs3775291, rs35140061, rs143307508, rs373118024, rs1005040113, rs752889035, rs745646456	RCV001533544 RCV001533542 RCV001533543 RCV004577028 RCV000007044 RCV003338178 RCV004577283 RCV000590389 RCV000587136 RCV000586170 RCV000587900 RCV000610503 RCV003224374 RCV002499225 RCV005392422 RCV005029605 RCV005394844 RCV001810019
Lung cancer	Likely benign; Benign	rs548804031, rs35617964	RCV005912904 RCV005896877
Lymphoma	Benign	rs113654222	RCV005900269
Malignant tumor of esophagus	Likely benign	rs5743319	RCV005923993
Multisystem inflammatory syndrome in children	Conflicting classifications of pathogenicity	rs35311343	RCV001779020
Nonpapillary renal cell carcinoma	Benign	rs113654222	RCV005900268
Ovarian serous cystadenocarcinoma	Benign	rs113654222	RCV005900270
See cases	Uncertain significance	rs1476463610	RCV004584473
Susceptibility to HIV infection	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs121434431, rs35311343, rs3775291, rs35140061, rs143307508, rs1005040113	RCV002496289 RCV005027691 RCV000034357 RCV003224374 RCV002499225 RCV005029605
Thyroid cancer, nonmedullary, 1	Benign	rs113654222	RCV005900271
TLR3-related disorder	Uncertain significance; Likely benign; Benign	rs752833190, rs757662803, rs370090850, rs121434431, rs764860383, rs867445555, rs2099302564, rs763756287, rs3775291, rs113654222, rs5743311, rs5743320, rs757686834	RCV003399127 RCV003948818 RCV003893216 RCV004755717 RCV003410699 RCV003410756 RCV003418923 RCV003893479 RCV003974868 RCV003980254 RCV003962857 RCV003968033 RCV004756191
Uterine corpus endometrial carcinoma	Benign	rs113654222	RCV005900272

Associations from Text Mining
Disease Name	Relationship Type	References
Achalasia Addisonianism Alacrimia syndrome	Associate	29567028
Acute On Chronic Liver Failure	Associate	28592438, 34774066
Adenocarcinoma of Lung	Associate	37746997
Adenomatous Polyposis Coli	Associate	38073344
AIDS Arteritis Central Nervous System	Stimulate	29128906
Alzheimer Disease	Associate	17652175
Alzheimer Disease	Stimulate	30076830
Anemia	Associate	24445780
Aortic Aneurysm Abdominal	Associate	29567028, 32284335
Aortic Aneurysm Thoracic	Associate	29486395
Arterial Occlusive Diseases	Stimulate	32022379
Arthritis Rheumatoid	Associate	16052591, 16142732, 18765427, 19035519, 20615213, 21179282, 21337319, 21557212, 21654189, 22590509, 24286242, 24708416, 24936783, 25304972, 26385789, 29434584, 31376255, 33387195
Arthritis Rheumatoid	Stimulate	31396542
Asthma	Associate	22994343, 25335167, 26418032, 27321649, 34512638, 38469627
Autoimmune Diseases	Associate	26318769, 29379035, 34964709
Bicuspid Aortic Valve Disease	Associate	29486395
Biliary Atresia	Associate	17075576, 23607494, 29070776
Breast Neoplasms	Associate	16585585, 21129170, 23370279, 23754355, 25348355, 26226228, 31789409, 37963636
Breast Neoplasms	Inhibit	37005579
Bronchiolitis	Stimulate	32628310
Capsule Opacification	Associate	35758265
Carcinogenesis	Associate	22013487
Carcinoma Hepatocellular	Associate	21829730, 23404408, 23529855, 28009434, 28127569, 31730575, 33173017
Carcinoma Hepatocellular	Inhibit	25884709
Carcinoma Non Small Cell Lung	Associate	31582772
Carcinoma Pancreatic Ductal	Associate	31314777
Cardiovascular Diseases	Associate	34258923
Cataract	Associate	33215406, 35758265
Cell Transformation Neoplastic	Stimulate	33036630
Chemical and Drug Induced Liver Injury	Associate	38079352
Chlamydia Infections	Associate	31383744
Chlamydial Pneumonia	Associate	31383744
Cholangiocarcinoma	Associate	33036630
Cholangitis	Associate	16035096
Choledochal Cyst	Associate	17075576
Chronic Disease	Stimulate	34512638
Cognition Disorders	Associate	36631778
Colitis Ulcerative	Associate	22185629
Colitis Ulcerative	Inhibit	32322884
Colonic Polyps	Associate	33255933
Colorectal Neoplasms	Associate	21792899, 30649440, 31869529, 35715570
Common Variable Immunodeficiency	Associate	27188997, 37626865
Common Variable Immunodeficiency	Stimulate	37896869
Communicable Diseases	Associate	34964709
Complement Factor H Deficiency	Associate	24084496
Congenital Abnormalities	Associate	28368532
Congenital idiopathic intestinal pseudoobstruction	Associate	25335167
Coronary Aneurysm	Stimulate	32022379
COVID 19	Associate	32599245, 32849643, 32972995, 33428154, 34043590, 34214498, 34315957, 34964709, 35063671, 35538443, 35694544, 36434007, 36924127, 37499788, 37966347, 38173795
COVID 19	Stimulate	36526691
Coxsackievirus Infections	Associate	36439191
Critical Illness	Associate	20957032
Crohn Disease	Associate	27895399
Cytokine Release Syndrome	Associate	22030901
Cytomegalovirus Infections	Associate	17698636, 39331212
Death	Associate	28510725
Dermatitis Atopic	Associate	21716324, 25171086
Dermatomyositis	Associate	20309865, 25365350, 32846838
Diabetes Mellitus Type 2	Associate	36552771
Drug Hypersensitivity	Associate	26376485
Encephalitis	Associate	17626075, 18248388, 32936395
Encephalitis	Stimulate	29116594
Encephalitis Herpes Simplex	Associate	20832341, 21722947, 22105173, 23434283, 25339207, 26216125, 28368532, 31217193, 34015270, 37083451
Encephalitis Tick Borne	Associate	24594345, 25226020
Encephalitis Varicella Zoster	Associate	28368532
Endocrine System Diseases	Associate	26318769
Endometrial Neoplasms	Associate	18775079
Endometriosis	Associate	18775079
Enterovirus Infections	Associate	24621100, 34726731
Epstein Barr Virus Infections	Associate	25843196
Esophageal Squamous Cell Carcinoma	Stimulate	21990957
Fatigue Syndrome Chronic	Associate	29223146
Fatty Liver Alcoholic	Associate	24997224
Fibrosarcoma	Associate	32936395
Fibrosis	Associate	23425350, 28127569, 34207750
Fibrosis	Inhibit	31383744, 35758265
Gastroesophageal Reflux	Inhibit	21474651
Genetic Diseases Inborn	Associate	37020259
Geographic Atrophy	Associate	24084496
Glomerulonephritis	Associate	16436653, 22466005, 30808838, 37340981
Glomerulonephritis IGA	Associate	27818460
Hantavirus Infections	Associate	32936395
Hashimoto Disease	Associate	39508448
Head and Neck Neoplasms	Associate	27791989
Heart Failure	Associate	28359509
Hemorrhagic Fever with Renal Syndrome	Associate	32936395
Henipavirus Infections	Associate	36920996
Hepatitis Alcoholic	Stimulate	24997224
Hepatitis B	Associate	23404408, 26226228, 29408639
Hepatitis C	Associate	24788318, 25126563, 27129228, 28127569, 32587314, 38019252
Hepatitis C	Inhibit	29535029
Hepatitis C Chronic	Associate	16436653, 23425350
Herpes Simplex	Associate	19437550, 28368532
HIV Infections	Inhibit	20636339, 32053234
HIV Infections	Associate	23962581, 30147152, 33350746
HIV Infections	Stimulate	29128906
HIV Seropositivity	Associate	23962581
HTLV I Infections	Associate	32578708
Hypertension	Associate	32284335
Hypothyroidism Congenital Nongoitrous 2	Stimulate	18775079
Hypoxia	Associate	27791989
Hypoxia Brain	Stimulate	27791989
IgA Deficiency	Associate	24371259
IgA Vasculitis	Associate	21179282, 21798884, 27818460, 33387195
Immuno hemolytic anemia	Associate	19924287
Immunologic Deficiency Syndromes	Associate	25339207, 31217193
Infections	Associate	16160153, 20832341, 26589477, 30808838, 31785031, 36076988
Infections	Stimulate	24223733
Inflammation	Associate	16035096, 16146574, 18155685, 18248388, 18765427, 19055649, 20309865, 20728939, 21716324, 21918500, 21952587, 23163821, 23668802, 24435511, 25098814, 25304972, 26077030, 26295359, 28052863, 28099447, 28621230, 28717003, 28794402, 29166644, 30333430, 30476912, 30808838, 31383744, 31969218, 33387195, 34214498, 34258923, 34360541, 34452547, 35335126, 35682575, 35694544, 36631778, 39348939
Inflammation	Stimulate	19001446, 23398903, 23861935, 24936783, 27729782, 28427199, 32481600, 34512638, 34916261
Inflammation	Inhibit	34207750
Inflammatory Bowel Diseases	Associate	23668802
Influenza Human	Stimulate	16914605, 20935192, 23552014, 26956584
Influenza Human	Associate	23151015, 28510725, 31217193, 37020259
Invasive Pulmonary Aspergillosis	Inhibit	24712925
Irritable Bowel Syndrome	Associate	27445342
Irritable Bowel Syndrome	Inhibit	33843785
Kidney Diseases	Associate	16436653, 26445497
Kidney Failure Chronic	Associate	26445497
Laryngeal Neoplasms	Associate	21478107
Leukemia Lymphocytic Chronic B Cell	Associate	37626865
Leukemia Myeloid Acute	Associate	36076988, 36964168
Leukoencephalopathies	Stimulate	23548575
Lichenoid Eruptions	Associate	28715461
Liver Cirrhosis	Associate	28093541, 28127569, 34207750, 38019252
Liver Cirrhosis Biliary	Associate	15856047
Liver Diseases	Associate	22030901, 28127569
Liver Failure	Associate	16035096
Lung Neoplasms	Associate	22421964, 24321786, 28427199, 37443143
Lupus Erythematosus Systemic	Stimulate	19843090
Lupus Erythematosus Systemic	Associate	22513098, 24692849, 25304972, 30201809, 31969218, 33336388
Lupus Nephritis	Associate	27635115, 35392757
Lupus Nephritis	Stimulate	33820486
Lymphatic Metastasis	Stimulate	21990957
Macular Degeneration	Stimulate	23946637
Mastocytosis Systemic	Associate	29223146
Melanoma	Associate	19001446, 25175033, 25944800
Metabolism Inborn Errors	Associate	31806906
Microphthalmia Syndromic 10	Associate	29116594
Mouth Diseases	Stimulate	18775079
Mucocutaneous Lymph Node Syndrome	Associate	25780885, 28061462
Multiple Myeloma	Associate	23593278, 29214775
Multiple Pterygium Syndrome Autosomal Dominant	Associate	31217193
Multiple Sclerosis	Associate	31177052, 35335126
Muscular Dystrophy Facioscapulohumeral	Associate	19888305
Myocarditis	Associate	23962581, 28359509
Myositis	Associate	20309865, 22094963
Myositis Inclusion Body	Stimulate	23608825
Myositis Inclusion Body	Associate	25365350
Nasal Polyps	Associate	27050744
Nasopharyngeal Carcinoma	Associate	17939877, 23576520, 30659926, 34452547
Necrosis	Associate	14729660, 16142732
Necrosis	Stimulate	21474651, 29434584
Neonatal herpes	Associate	32936395
Neoplasm Metastasis	Stimulate	21129170, 25348355
Neoplasm Metastasis	Associate	22058147, 26992898
Neoplasms	Associate	16585585, 17698636, 20576118, 20978888, 21527067, 21930732, 21990957, 22058147, 22421964, 22593190, 22868899, 23404408, 23509350, 23754355, 25175033, 25348355, 26992898, 27791989, 28127569, 28427199, 28621230, 31314777, 31582772, 34303791, 35269457, 35937402, 36613950
Neoplasms	Stimulate	21129170, 33036630
Neoplasms Adipose Tissue	Associate	30476912
Nephrosis congenital	Associate	26123900, 27355219
Neuralgia	Associate	35867896
Neuroblastoma	Associate	21861882, 26208481
Neurocognitive Disorders	Stimulate	29128906
Neuroma Acoustic	Associate	37026948
Niemann Pick Disease Type C	Associate	17939877
Non Muscle Invasive Bladder Neoplasms	Associate	37283287
Nose Diseases	Associate	27050744
Obesity	Associate	30476912, 36552771, 38013407
Osteoarthritis	Associate	21337319, 21557212, 23255072, 23334990, 33782454, 40165317
Osteoarthritis Knee	Associate	23255072
Otitis	Associate	24785236
Pancreatic Neoplasms	Associate	35000541
Papillomavirus Infections	Associate	33013878, 33164635, 39273663
pediatric multisystem inflammatory disease COVID 19 related	Associate	35639375
Periapical Diseases	Associate	27031066
Placenta Diseases	Associate	36591257
Platelet Signal Processing Defect	Associate	34678150
Pneumonia	Associate	23151015
Pneumonia Pneumococcal	Associate	26956584
Polymyositis	Associate	20309865, 25365350
Polyomavirus Infections	Stimulate	21918500
Polyps	Inhibit	33255933
Popliteal Pterygium Syndrome	Associate	34657879
Post Infectious Disorders	Stimulate	16035096
Premature Birth	Associate	23548575
Prostatic Neoplasms	Associate	17280610, 20651983, 20978888, 36257875
Prostatitis	Associate	20978888, 36613950
Proteinuria	Associate	26123900, 27818460
Pterygium	Associate	34369985
Pulmonary Disease Chronic Obstructive	Associate	21691053, 34512638
Pulmonary Disease Chronic Obstructive	Stimulate	25652132, 29264743
Pulmonary Fibrosis	Associate	34512638
Rectal Neoplasms	Associate	21792899
Renal Insufficiency Chronic	Associate	27639618, 29166644
Respiratory Distress Syndrome	Associate	31217193
Respiratory Sounds	Inhibit	25326706
Respiratory Sounds	Stimulate	32628310
Respiratory Syncytial Virus Infections	Associate	24352438
Respiratory Tract Diseases	Associate	34512638
Retinal Vasculitis	Associate	17177965
Rhinitis Allergic	Associate	16146574, 27667736
Rigid spine syndrome	Associate	24997224
Rotavirus Infections	Associate	24371259
Sarcoidosis Pulmonary	Associate	29237089
Sarcoma Kaposi	Associate	18155685
Schizophrenia	Associate	31959813, 38102721
Scleroderma Systemic	Associate	33168071
Sjogren's Syndrome	Associate	25098814
Skin Diseases	Associate	29738048
Smoke Inhalation Injury	Inhibit	27604339
Squamous Cell Carcinoma of Head and Neck	Associate	19740321, 26992898, 27191981
Status Asthmaticus	Inhibit	23212197
Stevens Johnson Syndrome	Associate	17314152, 22912896
Stomach Neoplasms	Associate	25843196, 34657879
Synovitis	Associate	33377396
talaromycosis	Associate	33777838
Thyroid Cancer Papillary	Associate	38197217
Triple Negative Breast Neoplasms	Associate	26226228, 37005579
Tuberculosis Meningeal	Associate	26567164
Urticaria Solar	Associate	31969218
Uterine Cervical Neoplasms	Inhibit	24165198
Uterine Cervical Neoplasms	Stimulate	25309919
Uterine Cervical Neoplasms	Associate	26548749
Uterine Cervicitis	Associate	21527067
Uterine Diseases	Associate	18775079
Uveal melanoma	Associate	36030435
Virus Diseases	Associate	16188991, 16782847, 17314152, 19597128, 20636339, 23529855, 23824215, 24760149, 24886842, 25574748, 26318769, 29223146, 30808838, 32578708, 35063671
Virus Diseases	Stimulate	23181789, 34512638
von Willebrand Disease Type 2	Stimulate	25365350
Weight Loss	Inhibit	30476912