Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10392
Gene name	Nucleotide binding oligomerization domain containing 1
Gene symbol	NOD1
Synonyms (NCBI Gene)	CARD4CLR7.1NLRC1hNod1
Chromosome	7
Chromosome location	7p14.3
Summary	This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-recognition receptor (PRR) that binds bacterial peptidogly

158

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miRTarBase ID	miRNA	Experiments	Reference
MIRT735303	hsa-miR-298	Luciferase reporter assayqRT-PCRELISA	32353008
MIRT1188272	hsa-miR-103a	CLIP-seq
MIRT1188273	hsa-miR-107	CLIP-seq
MIRT1188274	hsa-miR-1183	CLIP-seq
MIRT1188275	hsa-miR-1184	CLIP-seq
MIRT1188276	hsa-miR-1205	CLIP-seq
MIRT1188277	hsa-miR-125a-5p	CLIP-seq
MIRT1188278	hsa-miR-125b	CLIP-seq
MIRT1188279	hsa-miR-15a	CLIP-seq
MIRT1188280	hsa-miR-15b	CLIP-seq
MIRT1188281	hsa-miR-16	CLIP-seq
MIRT1188282	hsa-miR-1827	CLIP-seq
MIRT1188283	hsa-miR-195	CLIP-seq
MIRT1188284	hsa-miR-208a	CLIP-seq
MIRT1188285	hsa-miR-208b	CLIP-seq
MIRT1188286	hsa-miR-2467-3p	CLIP-seq
MIRT1188287	hsa-miR-31	CLIP-seq
MIRT1188288	hsa-miR-3125	CLIP-seq
MIRT1188289	hsa-miR-3128	CLIP-seq
MIRT1188290	hsa-miR-3136-3p	CLIP-seq
MIRT1188291	hsa-miR-3137	CLIP-seq
MIRT1188292	hsa-miR-3150b-3p	CLIP-seq
MIRT1188293	hsa-miR-3158-5p	CLIP-seq
MIRT1188294	hsa-miR-3160-3p	CLIP-seq
MIRT1188295	hsa-miR-3190	CLIP-seq
MIRT1188296	hsa-miR-3194-3p	CLIP-seq
MIRT1188297	hsa-miR-3617	CLIP-seq
MIRT1188298	hsa-miR-3658	CLIP-seq
MIRT1188299	hsa-miR-3916	CLIP-seq
MIRT1188300	hsa-miR-424	CLIP-seq
MIRT1188301	hsa-miR-4310	CLIP-seq
MIRT1188302	hsa-miR-4319	CLIP-seq
MIRT1188303	hsa-miR-4434	CLIP-seq
MIRT1188304	hsa-miR-4477a	CLIP-seq
MIRT1188305	hsa-miR-4481	CLIP-seq
MIRT1188306	hsa-miR-4487	CLIP-seq
MIRT1188307	hsa-miR-4493	CLIP-seq
MIRT1188308	hsa-miR-4516	CLIP-seq
MIRT1188309	hsa-miR-4641	CLIP-seq
MIRT1188310	hsa-miR-4696	CLIP-seq
MIRT1188311	hsa-miR-4745-5p	CLIP-seq
MIRT1188312	hsa-miR-4753-5p	CLIP-seq
MIRT1188313	hsa-miR-4758-5p	CLIP-seq
MIRT1188314	hsa-miR-4779	CLIP-seq
MIRT1188315	hsa-miR-4784	CLIP-seq
MIRT1188316	hsa-miR-495	CLIP-seq
MIRT1188317	hsa-miR-497	CLIP-seq
MIRT1188318	hsa-miR-499-5p	CLIP-seq
MIRT1188319	hsa-miR-544	CLIP-seq
MIRT1188320	hsa-miR-556-5p	CLIP-seq
MIRT1188321	hsa-miR-558	CLIP-seq
MIRT1188322	hsa-miR-606	CLIP-seq
MIRT1188323	hsa-miR-617	CLIP-seq
MIRT1188324	hsa-miR-641	CLIP-seq
MIRT1188325	hsa-miR-642b	CLIP-seq
MIRT1188326	hsa-miR-671-5p	CLIP-seq
MIRT1188327	hsa-miR-877	CLIP-seq
MIRT1188328	hsa-miR-940	CLIP-seq
MIRT1551787	hsa-miR-1207-3p	CLIP-seq
MIRT1188282	hsa-miR-1827	CLIP-seq
MIRT1551788	hsa-miR-3612	CLIP-seq
MIRT1551789	hsa-miR-3689a-3p	CLIP-seq
MIRT1551790	hsa-miR-3689c	CLIP-seq
MIRT1551791	hsa-miR-4728-5p	CLIP-seq
MIRT1551792	hsa-miR-650	CLIP-seq
MIRT1188328	hsa-miR-940	CLIP-seq
MIRT1188272	hsa-miR-103a	CLIP-seq
MIRT1188273	hsa-miR-107	CLIP-seq
MIRT1188274	hsa-miR-1183	CLIP-seq
MIRT1188277	hsa-miR-125a-5p	CLIP-seq
MIRT1188278	hsa-miR-125b	CLIP-seq
MIRT1188279	hsa-miR-15a	CLIP-seq
MIRT1188280	hsa-miR-15b	CLIP-seq
MIRT1188281	hsa-miR-16	CLIP-seq
MIRT1188283	hsa-miR-195	CLIP-seq
MIRT1188291	hsa-miR-3137	CLIP-seq
MIRT1188295	hsa-miR-3190	CLIP-seq
MIRT2054549	hsa-miR-3922-5p	CLIP-seq
MIRT1188300	hsa-miR-424	CLIP-seq
MIRT1188301	hsa-miR-4310	CLIP-seq
MIRT1188302	hsa-miR-4319	CLIP-seq
MIRT2054550	hsa-miR-4443	CLIP-seq
MIRT1188305	hsa-miR-4481	CLIP-seq
MIRT1188309	hsa-miR-4641	CLIP-seq
MIRT2054551	hsa-miR-4691-3p	CLIP-seq
MIRT1188311	hsa-miR-4745-5p	CLIP-seq
MIRT1188312	hsa-miR-4753-5p	CLIP-seq
MIRT1188313	hsa-miR-4758-5p	CLIP-seq
MIRT1188317	hsa-miR-497	CLIP-seq
MIRT2054552	hsa-miR-510	CLIP-seq
MIRT2054553	hsa-miR-512-5p	CLIP-seq
MIRT1188326	hsa-miR-671-5p	CLIP-seq
MIRT1188272	hsa-miR-103a	CLIP-seq
MIRT2283619	hsa-miR-106a	CLIP-seq
MIRT2283620	hsa-miR-106b	CLIP-seq
MIRT1188273	hsa-miR-107	CLIP-seq
MIRT1188274	hsa-miR-1183	CLIP-seq
MIRT2283621	hsa-miR-1236	CLIP-seq
MIRT1188277	hsa-miR-125a-5p	CLIP-seq
MIRT1188278	hsa-miR-125b	CLIP-seq
MIRT2283622	hsa-miR-128	CLIP-seq
MIRT2283623	hsa-miR-142-5p	CLIP-seq
MIRT1188279	hsa-miR-15a	CLIP-seq
MIRT1188280	hsa-miR-15b	CLIP-seq
MIRT1188281	hsa-miR-16	CLIP-seq
MIRT2283624	hsa-miR-17	CLIP-seq
MIRT1188283	hsa-miR-195	CLIP-seq
MIRT2283625	hsa-miR-200b	CLIP-seq
MIRT2283626	hsa-miR-200c	CLIP-seq
MIRT2283627	hsa-miR-20a	CLIP-seq
MIRT2283628	hsa-miR-20b	CLIP-seq
MIRT2283629	hsa-miR-27a	CLIP-seq
MIRT2283630	hsa-miR-27b	CLIP-seq
MIRT2283631	hsa-miR-302a	CLIP-seq
MIRT2283632	hsa-miR-302b	CLIP-seq
MIRT2283633	hsa-miR-302c	CLIP-seq
MIRT2283634	hsa-miR-302d	CLIP-seq
MIRT2283635	hsa-miR-302e	CLIP-seq
MIRT2283636	hsa-miR-3153	CLIP-seq
MIRT1188295	hsa-miR-3190	CLIP-seq
MIRT2283637	hsa-miR-369-3p	CLIP-seq
MIRT2283638	hsa-miR-372	CLIP-seq
MIRT2283639	hsa-miR-373	CLIP-seq
MIRT2283640	hsa-miR-374a	CLIP-seq
MIRT2283641	hsa-miR-374b	CLIP-seq
MIRT2283642	hsa-miR-412	CLIP-seq
MIRT1188300	hsa-miR-424	CLIP-seq
MIRT2283643	hsa-miR-429	CLIP-seq
MIRT1188301	hsa-miR-4310	CLIP-seq
MIRT1188302	hsa-miR-4319	CLIP-seq
MIRT1188305	hsa-miR-4481	CLIP-seq
MIRT2283644	hsa-miR-4663	CLIP-seq
MIRT2283645	hsa-miR-4668-5p	CLIP-seq
MIRT2283646	hsa-miR-4685-5p	CLIP-seq
MIRT2283647	hsa-miR-4693-5p	CLIP-seq
MIRT1188310	hsa-miR-4696	CLIP-seq
MIRT2283648	hsa-miR-4699-3p	CLIP-seq
MIRT1188311	hsa-miR-4745-5p	CLIP-seq
MIRT1188313	hsa-miR-4758-5p	CLIP-seq
MIRT2283649	hsa-miR-4802-3p	CLIP-seq
MIRT1188317	hsa-miR-497	CLIP-seq
MIRT2283650	hsa-miR-512-3p	CLIP-seq
MIRT2283651	hsa-miR-513a-5p	CLIP-seq
MIRT2283652	hsa-miR-519d	CLIP-seq
MIRT2283653	hsa-miR-520a-3p	CLIP-seq
MIRT2283654	hsa-miR-520b	CLIP-seq
MIRT2283655	hsa-miR-520c-3p	CLIP-seq
MIRT2283656	hsa-miR-520d-3p	CLIP-seq
MIRT2283657	hsa-miR-520e	CLIP-seq
MIRT2283658	hsa-miR-548u	CLIP-seq
MIRT1188322	hsa-miR-606	CLIP-seq
MIRT1188325	hsa-miR-642b	CLIP-seq
MIRT1188326	hsa-miR-671-5p	CLIP-seq
MIRT2283659	hsa-miR-759	CLIP-seq
MIRT2283660	hsa-miR-93	CLIP-seq
MIRT2455282	hsa-miR-3159	CLIP-seq
MIRT2455283	hsa-miR-4282	CLIP-seq
MIRT2455284	hsa-miR-665	CLIP-seq

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Transcription factor	Regulation	Reference
NR1I2	Repression	14688115

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0002221	Process	Pattern recognition receptor signaling pathway	IDA	31649195
GO:0002376	Process	Immune system process	IEA
GO:0002606	Process	Positive regulation of dendritic cell antigen processing and presentation	IEA
GO:0002606	Process	Positive regulation of dendritic cell antigen processing and presentation	ISS
GO:0005515	Function	Protein binding	IPI	15107016, 15657077, 17054981, 17337451, 17420470, 19043560, 19337385, 20534456, 23935490, 29997244, 32814053, 37398436
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	10329646
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	15967716
GO:0005829	Component	Cytosol	IDA	31649195
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	17970764, 31649195
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	31649195
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	TAS	10329646
GO:0006952	Process	Defense response	TAS	15967716
GO:0006954	Process	Inflammatory response	TAS	15967716
GO:0007165	Process	Signal transduction	TAS	10329646, 15967716
GO:0007254	Process	JNK cascade	IEA
GO:0008656	Function	Cysteine-type endopeptidase activator activity involved in apoptotic process	TAS	10329646
GO:0009595	Process	Detection of biotic stimulus	TAS	15967716
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0016020	Component	Membrane	IEA
GO:0016045	Process	Detection of bacterium	IDA	15653568
GO:0016323	Component	Basolateral plasma membrane	IDA	19043560
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	15653568
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032874	Process	Positive regulation of stress-activated MAPK cascade	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IDA	15653568
GO:0038187	Function	Pattern recognition receptor activity	IDA	11058605, 12791997, 12796777, 12871942, 23300079, 31649195, 33942347
GO:0038187	Function	Pattern recognition receptor activity	IEA
GO:0042742	Process	Defense response to bacterium	IDA	11058605, 12791997, 15653568
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042802	Function	Identical protein binding	IDA	10329646
GO:0042802	Function	Identical protein binding	IPI	18186648
GO:0042803	Function	Protein homodimerization activity	IPI	18186648
GO:0042834	Function	Peptidoglycan binding	IDA	12791997, 12796777, 12871942, 16211083
GO:0042834	Function	Peptidoglycan binding	IEA
GO:0042834	Function	Peptidoglycan binding	TAS	15967716
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	10329646
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	12791997
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043130	Function	Ubiquitin binding	IDA	23300079
GO:0044877	Function	Protein-containing complex binding	IPI	17337451
GO:0045087	Process	Innate immune response	IEA
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0050700	Function	CARD domain binding	IDA	10329646
GO:0050829	Process	Defense response to Gram-negative bacterium	IDA	12791997, 12796777
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	17054981, 19043560
GO:0051403	Process	Stress-activated MAPK cascade	IEA
GO:0060907	Process	Positive regulation of macrophage cytokine production	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070427	Process	Nucleotide-binding oligomerization domain containing 1 signaling pathway	IDA	11058605, 12791997, 12796777
GO:0070427	Process	Nucleotide-binding oligomerization domain containing 1 signaling pathway	IEA
GO:0071225	Process	Cellular response to muramyl dipeptide	IMP	25093298
GO:0098792	Process	Xenophagy	IEA
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IMP	25093298
GO:1904417	Process	Positive regulation of xenophagy	IEA

MIM	HGNC	e!Ensembl
605980	16390	ENSG00000106100

Q9Y239

Protein name

Nucleotide-binding oligomerization domain-containing protein 1 (hNod1) (Caspase recruitment domain-containing protein 4)

Protein function

Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and thus participates in both innate and adaptive immune responses (PubMed:11058605, PubMed:12791997, PubMed:12796777, PubMed:15044951, Pu

PDB

2B1W , 2DBD , 2NSN , 2NZ7 , 4E9M , 4JQW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00619	CARD	20 → 104	Caspase recruitment domain	Domain
PF05729	NACHT	196 → 368	NACHT domain	Domain
PF17779	NOD2_WH	458 → 515	NOD2 winged helix domain	Domain
PF17776	NLRC4_HD2	517 → 669	NLRC4 helical domain HD2	Domain
PF13516	LRR_6	728 → 749	Leucine Rich repeat	Repeat
PF13516	LRR_6	782 → 805	Leucine Rich repeat	Repeat
PF13516	LRR_6	838 → 861	Leucine Rich repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in adult heart, skeletal muscle, pancreas, spleen and ovary (PubMed:10224040). Also detected in placenta, lung, liver, kidney, thymus, testis, small intestine and colon (PubMed:10224040). {ECO:0000269|PubMed:10224040}.

Sequence

MEEQGHSEMEIIPSESHPHIQLLKSNRELLVTHIRNTQCLVDNLLKNDYFSAEDAEIVCA
CPTQPDKVRKILDLVQSKGEEVSEFFLYLLQQLADAYVDLRPWLLEIGFSPSLLTQSKVV
VNTDPVSRYTQQLRHHLGRDSKFVLCYAQKEELLLEEIYMDTIMELVGFSNESLGSLNSL
ACLLDHTTGILNEQGETIFILGDAGVGKSMLLQRLQSLWATGRLDAGVKFFFHFRCRMFS
CFKESDRLCLQDLLFKHYCYPERDPEEVFAFLLRFPHVALFTFDGLDELHSDLDLSRVPD
SSCPWEPAHPLVLLANLLSGKLLKGASKLLTARTGIEVPRQFLRKKVLLRGFSPSHLRAY
ARRMFPERALQDRLLSQLEANPNLCSLCSVPLFCWIIFRCFQHFRAAFEGSPQLPDCTMT
LTDVFLLVTEVHLNRMQPSSLVQRNTRSPVETLHAGRDTLCSLGQVAHRGMEKSLFVFTQ
EEVQASGLQERDMQLGFLRALPELGPGGDQQSYEFFHLTLQAFFTAFFLVLDDRVGTQEL
LRFFQEWMPPAGAATTSCYPPFLPFQCLQGSGPAREDLFKNKDHFQFTNLFLCGLLSKAK
QKLLRHLVPAAALRRKRKALWAHLFSSLRGYLKSLPRVQVESFNQVQAMPTFIWMLRCIY
ETQSQKVGQLAARGICANYLKLTYCNACSADCSALSFVLHHFPKRLALDLDNNNLNDYGV
RELQPCFSRLTVLRLSVNQITDGGVKVLSEELTKYKIVTYLGLYNNQITDVGARYVTKIL
DECKGLTHLKLGKNKITSEGGKYLALAVKNSKSISEVGMWGNQVGDEGAKAFAEALRNHP
SLTTLSLASNGISTEGGKSLARALQQNTSLEILWLTQNELNDEVAESLAEMLKVNQTLKH
LWLIQNQITAKGTAQLADALQSNTGITEICLNGNLIKPEEAKVYEDEKRIICF

Sequence length

953

Interactions

View interactions

	KEGG		Reactome
	NOD-like receptor signaling pathway Epithelial cell signaling in Helicobacter pylori infection Shigellosis Salmonella infection Pertussis		NOD1/2 Signaling Pathway TAK1 activates NFkB by phosphorylation and activation of IKKs complex activated TAK1 mediates p38 MAPK activation JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1 Ovarian tumor domain proteases Interleukin-1 signaling

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)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (127)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acne	Acne	BEFREE	16935475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Inflammatory Demyelinating Polyneuropathy	Inflammatory Demyelinating Polyneuropathy	BEFREE	27000222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	19587002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	20384614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27936005, 30496704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteritis	Arteritis	Pubtator	22507623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	18574154, 23353647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22143988	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15718249, 16893397, 16918516, 19587002, 19968634, 23524653, 24661094, 30874883		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	15718249		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	16021603, 19587002, 21802003, 23861935	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	27936005, 30496704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18574154, 26980698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	26833430, 26980698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	26833430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16446438, 31072371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29615116, 30791886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24817964, 29615116, 30791886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35242200, 36920176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26238283, 28541685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35130902, 37369480	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25608996, 28126160, 30496704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	19538217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	30874883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	25922834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28536249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	25423082, 31132297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19723304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24197332	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	16464805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19843337, 26378020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19843337, 26378020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28126160, 29962957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30903318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	16893397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	16893397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16893397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	12019468, 12477763, 16115863, 16637007, 16741608, 17030188, 17690884, 17907287, 17964870, 18397186, 21729873, 21739538, 24238340, 29671171, 30578751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	16115863, 17964870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	16637007, 17907287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	25058850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	22143988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	15990792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24934088, 27803247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24934088, 27803247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24018334	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29312143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24018334, 27803247, 27885704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	30653959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	17309748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyspepsia	Dysphasia	Pubtator	27917621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	20646321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	23935397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	23935397	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	17309748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	28811347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	21864388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	21864388	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	29021509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	29615116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28652394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	27000222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	24053487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28126160, 29962957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31652348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	12477763, 15790594, 16741608, 16893397, 17012967, 17285593, 17613538, 17948929, 17964870, 19570976, 19587002, 20818820, 21722177, 21729873, 27706808, 31132297, 31649195 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	15718249, 15790594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	16021603, 17595233, 19570976, 19587002, 21802003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26052894	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	25933107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29609537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36076988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	24817964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limbal stem cell deficiency	Limbal stem cell deficiency	BEFREE	26902715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30384473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24817964	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35130902	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	24053487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16446438, 31072371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26238283, 28541685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21864388, 22563200, 23460743, 25732381, 25933107, 29713127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21745515, 24053487, 25732381, 28541685, 28811347, 30696658, 31710460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	20118240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28484277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	26052894	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26052894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	22507623, 28640392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	22507623	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	16819970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35229543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	25608996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	27893720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16446438, 24817964, 30903318, 31710460		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	11158245		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	28092699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37853066	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32578848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25945796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29021509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	16819970, 17309748, 23460743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	27917621	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	33399167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	27479869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	27479869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	36043447	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	17100974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28536249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	23353647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	18574154, 22143988, 23353647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	16935475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	LHGDN	16935475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	16935475, 20851927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28768269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	16446438, 28640392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24817964, 27557518	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21864388, 22563200, 23460743, 25732381, 25933107, 29713127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	25933107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21695063, 22563200, 25933107, 33879265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27917621	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	BEFREE	21310790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32588760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30791886, 31072371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30791886, 31072371, 36923216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	16741608, 21722177, 21729873, 24197332, 28578011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37488967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	26980698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	26880761		★★★★★ ★☆☆☆☆ Found in Text Mining only

NOD1 (nucleotide binding oligomerization domain containing 1)