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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64127
Gene name	Nucleotide binding oligomerization domain containing 2
Gene symbol	NOD2
Synonyms (NCBI Gene)	ACUGBLAUBLAUSCARD15CDCLR16.3IBD1NLRC2NOD2BPSORAS1YAOS
Chromosome	16
Chromosome location	16q12.1
Summary	This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune res

Show/Hide all (26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2066844	C>T	Conflicting-interpretations-of-pathogenicity, risk-factor, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs2066845	G>C,T	Conflicting-interpretations-of-pathogenicity, risk-factor, uncertain-significance, likely-benign	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs2066847	C>-,CC	Likely-benign, risk-factor, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs5743277	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs5743289	C>G,T	Likely-benign, risk-factor, pathogenic	Genic downstream transcript variant, intron variant
rs34936594	C>G	Pathogenic, likely-benign	Missense variant, intron variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs61755182	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, intron variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs104895427	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs104895430	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Non coding transcript variant, synonymous variant, coding sequence variant
rs104895460	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs104895461	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs104895462	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs104895467	A>G	Risk-factor, likely-benign, uncertain-significance	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant, non coding transcript variant
rs104895472	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs104895473	T>C	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs104895476	C>G,T	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs104895477	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs104895483	G>A	Conflicting-interpretations-of-pathogenicity, not-provided	Non coding transcript variant, coding sequence variant, missense variant
rs143110172	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs144887729	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, 5 prime UTR variant, non coding transcript variant, intron variant, upstream transcript variant, coding sequence variant
rs746055479	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs752615209	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs766614906	G>A,T	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant, intron variant
rs886040969	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1201050964	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1264862631	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

Show/Hide all (46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024612	hsa-miR-215-5p	Microarray	19074876
MIRT026768	hsa-miR-192-5p	Microarray	19074876
MIRT438655	hsa-miR-122-5p	Luciferase reporter assayqRT-PCRWestern blot	23872065
MIRT438655	hsa-miR-122-5p	Luciferase reporter assayqRT-PCRWestern blot	23872065
MIRT438655	hsa-miR-122-5p	Luciferase reporter assayqRT-PCRWestern blot	23872065
MIRT438655	hsa-miR-122-5p	Luciferase reporter assayqRT-PCRWestern blot	23872065
MIRT735304	hsa-miR-298	Luciferase reporter assayqRT-PCRELISA	32353008
MIRT736436	hsa-miR-491-3p	qRT-PCRFlow cytometry	33679688
MIRT1188329	hsa-miR-1207-3p	CLIP-seq
MIRT1188330	hsa-miR-122	CLIP-seq
MIRT1188331	hsa-miR-2110	CLIP-seq
MIRT1188332	hsa-miR-2115	CLIP-seq
MIRT1188333	hsa-miR-3074-5p	CLIP-seq
MIRT1188334	hsa-miR-30a	CLIP-seq
MIRT1188335	hsa-miR-30b	CLIP-seq
MIRT1188336	hsa-miR-30c	CLIP-seq
MIRT1188337	hsa-miR-30d	CLIP-seq
MIRT1188338	hsa-miR-30e	CLIP-seq
MIRT1188339	hsa-miR-3135b	CLIP-seq
MIRT1188340	hsa-miR-3153	CLIP-seq
MIRT1188341	hsa-miR-320d	CLIP-seq
MIRT1188342	hsa-miR-330-3p	CLIP-seq
MIRT1188343	hsa-miR-3607-3p	CLIP-seq
MIRT1188344	hsa-miR-3607-5p	CLIP-seq
MIRT1188345	hsa-miR-4271	CLIP-seq
MIRT1188346	hsa-miR-4420	CLIP-seq
MIRT1188347	hsa-miR-4429	CLIP-seq
MIRT1188348	hsa-miR-4725-3p	CLIP-seq
MIRT1188349	hsa-miR-4735-5p	CLIP-seq
MIRT1188350	hsa-miR-4775	CLIP-seq
MIRT1188351	hsa-miR-486-5p	CLIP-seq
MIRT1188352	hsa-miR-516a-3p	CLIP-seq
MIRT1188353	hsa-miR-548n	CLIP-seq
MIRT1188354	hsa-miR-548t	CLIP-seq
MIRT1188355	hsa-miR-574-5p	CLIP-seq
MIRT1188356	hsa-miR-590-3p	CLIP-seq
MIRT1188357	hsa-miR-875-3p	CLIP-seq
MIRT2283661	hsa-miR-1286	CLIP-seq
MIRT2283662	hsa-miR-3914	CLIP-seq
MIRT2283663	hsa-miR-3928	CLIP-seq
MIRT2283664	hsa-miR-4459	CLIP-seq
MIRT2283665	hsa-miR-4643	CLIP-seq
MIRT2283666	hsa-miR-4779	CLIP-seq
MIRT2283667	hsa-miR-665	CLIP-seq
MIRT2283668	hsa-miR-765	CLIP-seq
MIRT2581847	hsa-miR-4804-3p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
NFKB1	Activation	12671897
NR1I2	Repression	14688115

118

Show/Hide all (118)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001659	Process	Temperature homeostasis	ISS
GO:0002221	Process	Pattern recognition receptor signaling pathway	IDA	31649195
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002606	Process	Positive regulation of dendritic cell antigen processing and presentation	ISS
GO:0002720	Process	Positive regulation of cytokine production involved in immune response	IMP	16260731
GO:0002732	Process	Positive regulation of dendritic cell cytokine production	IEA
GO:0002830	Process	Positive regulation of type 2 immune response	IMP	21172192
GO:0003779	Function	Actin binding	IDA	24790089
GO:0005515	Function	Protein binding	IPI	11472070, 15107016, 15753091, 16203728, 16714539, 17337451, 18511561, 19337385, 20534456, 21699783, 21931826, 22684479, 22700971, 22829933, 23376921, 23711367, 24695226, 26836588, 27812135, 28436939, 30833792, 31273097, 35273242
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	21887730, 24790089, 25093298
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	15967716
GO:0005739	Component	Mitochondrion	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	19701189
GO:0005829	Component	Cytosol	IDA	14570728, 15998797, 31649195
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IDA	21887730
GO:0005886	Component	Plasma membrane	IDA	17355968
GO:0005886	Component	Plasma membrane	IDA	15998797, 25093298
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	31649195
GO:0006914	Process	Autophagy	IEA
GO:0006952	Process	Defense response	TAS	15967716
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1406630, 34721373
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	11385577
GO:0007584	Process	Response to nutrient	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009595	Process	Detection of biotic stimulus	TAS	15967716
GO:0009986	Component	Cell surface	IDA	16714539
GO:0016020	Component	Membrane	IEA
GO:0016045	Process	Detection of bacterium	IDA	15653568
GO:0016323	Component	Basolateral plasma membrane	IDA	16203728
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0019897	Component	Extrinsic component of plasma membrane	IDA	17355968, 34293401
GO:0019899	Function	Enzyme binding	IPI	15753091
GO:0019901	Function	Protein kinase binding	IPI	15075345, 24790089, 25891078
GO:0030277	Process	Maintenance of gastrointestinal epithelium	IMP	17058067
GO:0030544	Function	Hsp70 protein binding	IPI	24790089
GO:0031982	Component	Vesicle	IDA	15998797, 21887730
GO:0032098	Process	Regulation of appetite	ISS
GO:0032495	Process	Response to muramyl dipeptide	IBA
GO:0032495	Process	Response to muramyl dipeptide	IDA	12514169, 12626759, 15044951, 15998797, 16414084, 17355968, 27283905, 31649195
GO:0032495	Process	Response to muramyl dipeptide	IEA
GO:0032495	Process	Response to muramyl dipeptide	IMP	24790089
GO:0032498	Process	Detection of muramyl dipeptide	IDA	12527755
GO:0032498	Process	Detection of muramyl dipeptide	IDA	15998797
GO:0032500	Function	Muramyl dipeptide binding	IDA	12871942, 15044951, 15998797, 22857257, 27748583
GO:0032500	Function	Muramyl dipeptide binding	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	15107016
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IMP	21040358
GO:0032733	Process	Positive regulation of interleukin-10 production	ISS
GO:0032740	Process	Positive regulation of interleukin-17 production	IMP	17919942
GO:0032755	Process	Positive regulation of interleukin-6 production	IDA	16414084
GO:0032757	Process	Positive regulation of interleukin-8 production	IMP	24790089
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IDA	17187069
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IMP	21040358
GO:0032874	Process	Positive regulation of stress-activated MAPK cascade	IDA	17187069
GO:0032991	Component	Protein-containing complex	IDA	21887730
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IDA	15653568
GO:0036335	Process	Intestinal stem cell homeostasis	ISS
GO:0038066	Process	P38MAPK cascade	IDA	10330143, 11460167
GO:0038187	Function	Pattern recognition receptor activity	IDA	12871942, 17355968, 22857257, 23300079, 27748583, 31649195, 33942347
GO:0042742	Process	Defense response to bacterium	IBA
GO:0042742	Process	Defense response to bacterium	IDA	11460167, 16824733, 18079694, 19136968, 22607974, 29452636
GO:0042742	Process	Defense response to bacterium	IDA	12514169, 12626759, 15044951, 15653568, 17355968, 31649195
GO:0042834	Function	Peptidoglycan binding	IDA	15998797
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	9346484, 11460167, 12527755, 18079694, 23806334, 27777308
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	11087742, 12514169, 12626759, 15044951, 17355968
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	15998797
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	25038658
GO:0043130	Function	Ubiquitin binding	IDA	23300079
GO:0043168	Function	Anion binding	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0043531	Function	ADP binding	ISS
GO:0044877	Function	Protein-containing complex binding	IPI	17337451
GO:0045087	Process	Innate immune response	IDA	23806334
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	NAS	17690884
GO:0045335	Component	Phagocytic vesicle	IDA	31649195
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21887730
GO:0046330	Process	Positive regulation of JNK cascade	IDA	17187069
GO:0046645	Process	Positive regulation of gamma-delta T cell activation	ISS
GO:0048874	Process	Host-mediated modulation of intestinal microbiota composition	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	ISS
GO:0050700	Function	CARD domain binding	IPI	11087742
GO:0050727	Process	Regulation of inflammatory response	IDA	11385577
GO:0050871	Process	Positive regulation of B cell activation	IDA	20844241
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	12527755
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	11385577, 21887730
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	16203728, 24790089
GO:0051879	Function	Hsp90 protein binding	IDA	24790089
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA	12527755, 16824733, 29452636
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA	12626759, 15044951, 17355968, 23806334, 31649195
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	29452636
GO:0071222	Process	Cellular response to lipopolysaccharide	IMP	27812135
GO:0071224	Process	Cellular response to peptidoglycan	IEA
GO:0071225	Process	Cellular response to muramyl dipeptide	IDA	21887730
GO:0071225	Process	Cellular response to muramyl dipeptide	IMP	25093298, 27812135
GO:0097039	Process	Protein linear polyubiquitination	IDA	23806334
GO:0097367	Function	Carbohydrate derivative binding	IEA
GO:0140367	Process	Antibacterial innate immune response	IDA	20406817
GO:0140367	Process	Antibacterial innate immune response	IDA	20406817
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	IDA	24671169
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IMP	25093298
GO:1901526	Process	Positive regulation of mitophagy	ISS
GO:1902523	Process	Positive regulation of protein K63-linked ubiquitination	IMP	25891078
GO:2000110	Process	Negative regulation of macrophage apoptotic process	ISS

MIM	HGNC	e!Ensembl
605956	5331	ENSG00000167207

Q9HC29

Protein name

Nucleotide-binding oligomerization domain-containing protein 2 (Caspase recruitment domain-containing protein 15) (Inflammatory bowel disease protein 1)

Protein function

Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity (PubMed:12514169, PubMed:12527755, PubMed:12626759, PubMed:15044951, PubMed:15998

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00619	CARD	31 → 121	Caspase recruitment domain	Domain
PF05729	NACHT	293 → 463	NACHT domain	Domain
PF17779	NOD2_WH	545 → 597	NOD2 winged helix domain	Domain
PF17776	NLRC4_HD2	603 → 757	NLRC4 helical domain HD2	Domain
PF13516	LRR_6	897 → 920	Leucine Rich repeat	Repeat
PF13516	LRR_6	925 → 948	Leucine Rich repeat	Repeat
PF13516	LRR_6	981 → 1004	Leucine Rich repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in monocytes, macrophages, dendritic cells, hepatocytes, preadipocytes, epithelial cells of oral cavity, lung and intestine, with higher expression in ileal Paneth cells and in intestinal stem cells. {ECO:0000269|PubMed:11087

Sequence

MGEEGGSASHDEEERASVLLGHSPGCEMCSQEAFQAQRSQLVELLVSGSLEGFESVLDWL
LSWEVLSWEDYEGFHLLGQPLSHLARRLLDTVWNKGTWACQKLIAAAQEAQADSQSPKLH
GCWDPHSLHPARDLQSHRPAIVRRLHSHVENMLDLAWERGFVSQYECDEIRLPIFTPSQR
ARRLLDLATVKANGLAAFLLQHVQELPVPLALPLEAATCKKYMAKLRTTVSAQSRFLSTY
DGAETLCLEDIYTENVLEVWADVGMAGPPQKSPATLGLEELFSTPGHLNDDADTVLVVGE
AGSGKSTLLQRLHLLWAAGQDFQEFLFVFPFSCRQLQCMAKPLSVRTLLFEHCCWPDVGQ
EDIFQLLLDHPDRVLLTFDGFDEFKFRFTDRERHCSPTDPTSVQTLLFNLLQGNLLKNAR
KVVTSRPAAVSAFLRKYIRTEFNLKGFSEQGIELYLRKRHHEPGVADRLIRLLQETSALH
GLCHLPVFSWMVSKCHQELLLQEGGSPKTTTDMYLLILQHFLLHATPPDSASQGLGPSLL
RGRLPTLLHLGRLALWGLGMCCYVFSAQQLQAAQVSPDDISLGFLVRAKGVVPGSTAPLE
FLHITFQCFFAAFYLALSADVPPALLRHLFNCGRPGNSPMARLLPTMCIQASEGKDSSVA
ALLQKAEPHNLQITAAFLAGLLSREHWGLLAECQTSEKALLRRQACARWCLARSLRKHFH
SIPPAAPGEAKSVHAMPGFIWLIRSLYEMQEERLARKAARGLNVGHLKLTFCSVGPTECA
ALAFVLQHLRRPVALQLDYNSVGDIGVEQLLPCLGVCKALYLRDNNISDRGICKLIECAL
HCEQLQKLALFNNKLTDGCAHSMAKLLACRQNFLALRLGNNYITAAGAQVLAEGLRGNTS
LQFLGFWGNRVGDEGAQALAEALGDHQSLRWLSLVGNNIGSVGAQALALMLAKNVMLEEL
CLEENHLQDEGVCSLAEGLKKNSSLKILKLSNNCITYLGAEALLQALERNDTILEVWLRG
NTFSLEEVDKLGCRDTRLLL

Sequence length

1040

Interactions

View interactions

	KEGG		Reactome
	NOD-like receptor signaling pathway TNF signaling pathway Tuberculosis Inflammatory bowel disease		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

2318

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoinflammatory syndrome	Likely pathogenic	rs925816831	RCV002262165
Behcet disease	Pathogenic	rs886040969, rs746055479, rs752615209	RCV000258046 RCV000258056 RCV000258859
Blau syndrome	Pathogenic; Likely pathogenic	rs104895494, rs104895478, rs104895473, rs104895479, rs104895475, rs2150810705, rs104895461, rs104895460, rs104895462, rs104895472, rs104895476, rs104895477, rs2506403400	RCV000084087 RCV000084089 RCV000084091 RCV000084095 RCV000084099 RCV001542792 RCV000004958 RCV000004959 RCV000004960 RCV000416481 RCV000416482 RCV000004966 RCV003780084
Inflammatory bowel disease 1	Pathogenic	rs1264862631	RCV001784395
Regional enteritis	Pathogenic; Likely pathogenic	rs104895494, rs104895473, rs104895479, rs104895475, rs104895461, rs104895462, rs104895476, rs104895477, rs2506403400	RCV005222745 RCV002513872 RCV002514475 RCV002513874 RCV002512784 RCV002512785 RCV003764528 RCV002512788 RCV003780084

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs5743278	RCV005894482
Crohn disease	association; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	RCV000334899 RCV001535441 RCV000302740 RCV000286182 RCV000303331 RCV000293577
	association; Conflicting classifications of pathogenicity	rs2066847	RCV002468553
Dilated cardiomyopathy 1G	Conflicting classifications of pathogenicity	rs373812846	RCV004813090
Hepatocellular carcinoma	Benign; Likely benign	rs5743278	RCV005894480
Leprosy, susceptibility to, 1	Uncertain risk allele; confers sensitivity; Benign	rs2111234, rs8057341, rs3135499	RCV002291817 RCV002291819 RCV002291618
Lung cancer	Benign; Likely benign	rs5743278	RCV005894483
Malignant tumor of esophagus	Benign	rs5743270	RCV005919923
NOD2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs104895430, rs104895431, rs104895483, rs104895444, rs104895447, rs104895452, rs104895422, rs104895427, rs368952727, rs763192145, rs751417475, rs367905706, rs1964825969, rs2506431396, rs572217630 View all (34 more)	RCV004748571 RCV003974994 RCV004748572 RCV003974995 RCV003945034 RCV003964950 RCV004748573 RCV004748574 RCV003980396 RCV003948830 RCV003970970 RCV003420342 RCV003403930 RCV004750248 RCV003399688 RCV003391445 RCV003404612 RCV003896644 RCV003897012 RCV003892325 RCV003969902 RCV003920348 RCV004748728 RCV003940253 RCV003972364 RCV003972365 RCV003972362 RCV003401335 RCV003920347 RCV003972363 RCV004748729 RCV003430828 RCV003392204 RCV004748819 RCV003953131 RCV003905719 RCV003945688 RCV004748903 RCV003907958 RCV004748904 RCV004748973 RCV003892723 RCV004748977 RCV004749567 RCV003928488 RCV003933188 RCV004749597 RCV003405324 RCV004749647
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs5743278	RCV005894481
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	rs104895421, rs5743270	RCV005887700 RCV005919925
Psoriatic arthritis, susceptibility to	Benign; Likely benign; Conflicting classifications of pathogenicity; association; Uncertain significance	rs5743291, rs2150808670, rs2066845, rs104895438, rs61747625, rs142559533, rs114664276, rs746055479	RCV000755646 RCV002208760 RCV002054415 RCV001280996 RCV002056495 RCV002056496 RCV001280997 RCV001281018
Sarcoma	Benign	rs5743270	RCV005919924
Thymoma	Conflicting classifications of pathogenicity	rs201759367	RCV005894484
Uterine corpus endometrial carcinoma	Uncertain significance; Benign	rs778447050, rs5743270	RCV005911025 RCV005919926
Yao syndrome	Uncertain significance; Conflicting classifications of pathogenicity; association; Benign; Likely benign	rs1964529815, rs104895429, rs104895489, rs104895464, rs104895467, rs5743291, rs104895457, rs104895456, rs104895422, rs104895427, rs764176270, rs2150808670, rs2066847, rs2066845, rs2066844 View all (21 more)	RCV002499648 RCV002483167 RCV002505016 RCV005016372 RCV005394356 RCV000755646 RCV005394357 RCV005016373 RCV005394358 RCV000768031 RCV002482579 RCV002208760 RCV000416485 RCV000416490 RCV000416493 RCV000416489 RCV001280996 RCV005014976 RCV002502245 RCV002056495 RCV005016705 RCV002056496 RCV005392203 RCV003140120 RCV005392284 RCV000768027 RCV005392450 RCV001280997 RCV002495526 RCV005021309 RCV003224507 RCV005394748 RCV001198645 RCV002497754 RCV002491741 RCV001281018

Show/Hide Text Mining Associations (222)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Spontaneous	Associate	29796818
Abscess	Associate	19570052
Acute On Chronic Liver Failure	Associate	31991025
Adenocarcinoma of Lung	Associate	34268854
Adenomatous Polyposis Coli	Associate	28633443
Alzheimer Disease	Associate	31991025
Anal Gland Neoplasms	Associate	26042516, 26147989, 26836588
Anemia	Associate	39290705
Angioedemas Hereditary	Associate	26953272
Appendicitis	Associate	19570052, 24336024
Arteritis	Associate	12428248
Arthralgia	Associate	31556326
Arthritis	Associate	17009307, 17968944, 19479837, 21914217, 24713464, 25416713, 29463017, 29933504, 30249847, 30574935, 36189202, 40350497
Arthritis Gouty	Associate	27357501
Arthritis Juvenile	Associate	25209167
Arthritis Psoriatic	Associate	12879366, 15140210, 16255050, 16402184, 36113963
Arthritis Rheumatoid	Associate	19180502, 22143988, 25652333, 26151758, 33904676
Asthma	Associate	30950247
Autistic Disorder	Associate	36199823
Autoimmune enteropathy	Associate	35273242
Bacteremia	Associate	24345423
Bacterial Infections	Associate	23850724, 30702490, 31991025, 37321912
Behcet Syndrome	Associate	28814775, 30808881
Biliary Tract Diseases	Associate	28765628
Birdshot Chorioretinopathy	Associate	23100559
Blau syndrome	Associate	12428248, 12626759, 14621080, 15044951, 15459013, 16935475, 17009307, 17393391, 17968944, 18718560, 19116920, 19180500, 19479836, 19479837, 19822951 View all (31 more)
Bone Diseases	Associate	25416713
Bone Diseases Metabolic	Associate	16009674
Breast Neoplasms	Associate	29165176, 29615116, 30791886
Bronchiolitis Obliterans	Associate	18158963
Bronchiolitis Obliterans Syndrome	Associate	21215810
Buruli Ulcer	Associate	27128681
Canavan Disease	Associate	29795570
Carcinogenesis	Associate	29615116, 30791886, 34268854
Carcinoma Hepatocellular	Associate	19570052, 28960882, 34464323, 35242200
Carcinoma Renal Cell	Associate	34002666
Cardiomyopathies	Associate	17968944
Cardiomyopathy Hypertrophic	Associate	19479837
Cardiovascular Diseases	Associate	20412372
Cataract	Associate	17009307, 30882657, 37493686
Catheter Related Infections	Associate	24597572
Chlamydia Infections	Associate	25854006
Cholangitis Sclerosing	Associate	18715515
Cholesteatoma	Stimulate	25922834
Chorioamnionitis	Associate	28122480
Chronic Disease	Associate	21887730
Churg Strauss Syndrome	Associate	12428248
Colitis	Associate	24671169
Colitis Ulcerative	Associate	12631669, 15637755, 15655821, 16840031, 18680223, 20027650, 20839241, 21304977, 21830272, 22269043, 24595243, 24651958, 26167078, 30430799, 37156999, 37205778 View all (1 more)
Colonic Diseases	Associate	11875755, 12019468, 21830272
Colorectal Neoplasms	Associate	17389035, 18433468, 19570052, 19843337, 20676658, 26378020, 34198814, 35836259
Common Variable Immunodeficiency	Associate	20646002
Communicable Diseases	Associate	19570052, 25887140
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19479837
Constriction Pathologic	Associate	16244543, 25365249
Coronary Artery Disease	Associate	27446957
Coronary Disease	Associate	17980027, 27446957
COVID 19	Associate	34623759
Coxa Magna	Associate	36193326
Cranial Nerve Diseases	Associate	12428248
Critical Illness	Associate	28765628
Crohn Disease	Associate	10747815, 11385577, 11875755, 12019468, 12105838, 12115195, 12194982, 12477763, 12514169, 12529700, 12577202, 12618963, 12626759, 12631669, 12776251 View all (225 more)
Crohn Disease	Stimulate	12740340
Crohn Disease	Inhibit	19948723
Cryopyrin Associated Periodic Syndromes	Associate	19180500
Cystic Fibrosis	Associate	25058850
Cysts	Associate	29600982
Cytokine Release Syndrome	Associate	21886831, 32596371
Death	Inhibit	28960882
Depressive Disorder	Associate	40226707
Dermatitis	Associate	21914217, 30574935, 36189202, 37868966
Dermatitis Atopic	Associate	23892590, 27077833
Diabetes Mellitus Type 2	Stimulate	24018334
Disease	Associate	16489646, 19185283
Down Syndrome	Associate	21124956
Drug Hypersensitivity	Associate	27077833, 32603359, 39307590
Dysbiosis	Associate	26556047, 28633443, 30818349
Dyskinesia Familial with Facial Myokymia	Associate	20380008
Dyspepsia	Associate	19570052
Endometrial Neoplasms	Associate	20646321, 32319602, 35442481
Endometriosis	Stimulate	23935397
Erythema Nodosum	Associate	20350193
Exanthema	Associate	39290705, 40350497
Fallopian Tube Diseases	Associate	25854006
Fetal Membranes Premature Rupture	Associate	29796818
Fever	Associate	24597572, 40350497
Fibrosis	Associate	25887140, 30702490, 40153826
Fissure in Ano	Associate	19570052
Fistula	Associate	16266221, 21209938, 25365249, 32716958
Gastritis	Associate	19570052
Gastroesophageal Reflux	Associate	19570052
Gastrointestinal Diseases	Associate	19570052, 21173700
Gastrointestinal Neoplasms	Associate	19570052, 29615116
Gaucher Disease	Associate	29795570
Genetic Diseases Inborn	Associate	36113963
Glaucoma Open Angle	Associate	30702490
Glioblastoma	Associate	35123435
Graft vs Host Disease	Associate	15090455, 19912254, 20541026, 24345423, 24393249, 29142307, 29165176
Granulomatosis Orofacial	Associate	27306066
Granulomatous Disease Chronic	Associate	16935475, 22129508
Granulomatous Mastitis	Associate	19641059
Helicobacter Infections	Associate	22563200, 25933107, 33399167
HELLP Syndrome	Associate	18382655
Hereditary Autoinflammatory Diseases	Associate	14623123, 17968944, 18576390, 18718560, 21914217, 28750667, 28814775, 28836875, 29471675, 29933504, 30808881, 31286971, 33042144, 33929124, 35066577 View all (7 more)
Hereditary macular coloboma	Associate	30882657
Hermanski Pudlak Syndrome	Associate	29600982
HIV Infections	Associate	30323326
Hypercalcemia	Associate	29933504
Hypertension Portal	Associate	30702490
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	36189202
Idiopathic Noncirrhotic Portal Hypertension	Associate	24393249
Ileal Diseases	Associate	12019468, 14570728, 15308523, 15770725, 20380008, 25365249, 32716958, 36161322
Ileitis	Associate	16437728
Immune System Diseases	Associate	29165176, 35311449
Immunologic Deficiency Syndromes	Associate	33256375, 35273242
Infections	Associate	19641059, 20018961, 24932916, 25933107, 29796818
Infections	Stimulate	24671169
Inflammation	Associate	11875755, 12194982, 14623123, 15539413, 16257953, 16641610, 17498224, 17965060, 17980027, 18028374, 18096043, 18157816, 18382655, 18433468, 18647246 View all (40 more)
Inflammation	Stimulate	19880660, 29165176, 30791886
Inflammation	Inhibit	27077833, 30323326, 37708849
Inflammatory Bowel Disease 25 Autosomal Recessive	Associate	28404814, 30709874
Inflammatory Bowel Diseases	Associate	11752413, 12626759, 12631669, 15194648, 15194649, 15637755, 15655821, 16257953, 16840031, 17451203, 17595233, 18096043, 18647548, 18680223, 18698678 View all (55 more)
Influenza Human	Associate	33393450
Intervertebral Disc Degeneration	Associate	35578687
Intestinal Diseases	Associate	27306066, 29142307
Intestinal Failure	Associate	24597572
Intestinal Pseudo Obstruction	Associate	19479837
Invasive Pneumococcal Disease Recurrent Isolated 2	Associate	27128681
Irritable Bowel Syndrome	Associate	19570052
Jaundice	Associate	30702490
Keratitis	Associate	34465352
Kidney Diseases	Associate	31186034, 32596371
Kidney Failure Chronic	Associate	19479837, 19679608
Kidney Neoplasms	Associate	35478773
Leprosy	Associate	20018961, 20350193, 21637794, 22447076, 26151758, 28715406, 30289892, 32433683, 36877680, 36972292
Leprosy Paucibacillary	Associate	20018961
Leukemia Lymphocytic Chronic B Cell	Associate	22437326
Leukemia Myeloid Acute	Associate	36076988
Leukemia Prolymphocytic T Cell	Associate	19036098
Liver Cirrhosis	Associate	25887140, 28765628
Liver Cirrhosis Biliary	Associate	18715515
Liver Diseases	Associate	24345423
Lung Diseases	Associate	18647246
Lung Diseases Interstitial	Associate	17393391, 40350497
Lupus Erythematosus Systemic	Associate	21886831
Lupus Nephritis	Stimulate	31186034
Lymphoproliferative Syndrome X Linked 2	Associate	23818254
Melanoma Cutaneous Malignant	Associate	34903008
Meningism	Associate	27432718
Meningitis Meningococcal	Associate	23691182
Multiple Myeloma	Associate	32596371, 34623759
Multiple Sclerosis	Associate	21625457
Mycobacterium Infections Nontuberculous	Associate	25335775
Myocardial Infarction	Associate	35229543
Neonatal herpes	Associate	24345423
Neoplasm Metastasis	Associate	35130902
Neoplasms	Associate	20412372, 28960882, 34268854, 35130902
Neoplasms	Inhibit	29615116, 33256375
Neoplasms Glandular and Epithelial	Associate	17965060
Neoplasms Squamous Cell	Associate	35130902
Niemann Pick Disease Type C	Associate	26953272, 35741735
Obstetric Labor Premature	Associate	28122480
Opportunistic Infections	Associate	24597572
Osteoarthritis	Stimulate	30760380
Osteoporosis	Associate	23635032, 32578848
Osteosclerosis	Associate	29933504
Pancreatitis	Associate	31314190
Panuveitis	Associate	23124805, 25209167
Parkinson Disease	Associate	23651603, 31146602, 36972292
Peptic Ulcer	Associate	33399167
Pericarditis	Associate	19479837
Peritoneal Neoplasms	Associate	34464323
Peritonitis	Associate	30702490, 34464323
Personality Disorders	Associate	25365249
Plaque Atherosclerotic	Associate	17980027
Positive Pressure Respiration Intrinsic	Associate	21310790
Pouchitis	Associate	28633443
Pre Eclampsia	Associate	18382655
Prostatic Neoplasms	Associate	35638715
Proteinuria	Associate	31186034
Psoriasis	Associate	16402184, 19554025
Pulmonary Disease Chronic Obstructive	Associate	36655999
Pyruvate Carboxylase Deficiency Disease	Associate	22393312
Respiratory Syncytial Virus Infections	Associate	22730064
Retinal Dysplasia	Associate	25933107
Retinal Nonattachment Nonsyndromic Congenital	Associate	37386644
Retinitis Pigmentosa	Associate	37493686
Sacroiliitis	Associate	15308523, 17725592
Sarcoidosis	Associate	15459013, 17009307, 17393391, 17968944, 19116920, 20039400, 21310790, 25093298, 28621099, 28836875, 29463017, 29554915, 33602264, 33929124, 37868966
Sarcoidosis Pulmonary	Associate	19679608
Sepsis	Associate	18647246, 24345423
Severe Acute Respiratory Syndrome	Associate	33393450
Signs and Symptoms Digestive	Associate	21914217
Sjogren's Syndrome	Associate	21914217
Smoke Inhalation Injury	Associate	32716958
Spondylarthritis	Associate	12115195
Spondylarthropathies	Associate	15539413
Spondylitis	Associate	15308523
Spondylitis Ankylosing	Associate	12115195
Squamous Cell Carcinoma of Head and Neck	Associate	35574984
Stomach Diseases	Associate	25933107
Stomach Neoplasms	Associate	18507017, 19189651, 22563200, 25933107
Surgical Wound Infection	Associate	27622570
Syndrome	Associate	29471675, 39290705, 39372397
Tay Sachs Disease	Associate	29795570
Thinness	Associate	23635032
Thyroiditis Subacute	Associate	20646002
Toxoplasmosis Ocular	Associate	23100559
Translocation Genetic	Associate	28765628
Triple Negative Breast Neoplasms	Associate	30791886, 31072371
Tuberculosis	Associate	22502597, 24597572
Tuberculosis Lymph Node	Associate	24597572
Tuberculosis Pulmonary	Associate	17705850, 22502597
Urinary Bladder Neoplasms	Associate	35478773
Uterine Cervical Neoplasms	Associate	37400149
Uveitis	Associate	17009307, 19479837, 19822951, 25209167, 26438151, 29933504, 30249847, 30574935, 32707200, 36189202, 40350497
Vasculitis	Associate	31186034
Verloes Van Maldergem Marneffe syndrome	Associate	17968944
Virus Diseases	Associate	23850724
Vision Disorders	Associate	19116920, 25416713, 37386644
Weight Loss	Associate	24597572
Whooping Cough	Stimulate	28076445

NOD2 (nucleotide binding oligomerization domain containing 2)