NOD2 (nucleotide binding oligomerization domain containing 2)

Gene

• Entrez ID: 64127
• Gene name: Nucleotide binding oligomerization domain containing 2
• Gene symbol: NOD2
• Synonyms: ACUG, BLAU, BLAUS, CARD15, CD, CLR16.3, IBD1, NLRC2, NOD2B, PSORAS1, YAOS
• 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

SNPs

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

miRNA

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 assay, qRT-PCR, Western blot	23872065
MIRT438655	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	23872065
MIRT438655	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	23872065
MIRT438655	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR, Western blot	23872065
MIRT735304	hsa-miR-298	Luciferase reporter assay, qRT-PCR, ELISA	32353008
MIRT736436	hsa-miR-491-3p	qRT-PCR, Flow 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

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Activation	12671897
NR1I2	Repression	14688115

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000187	Process	Activation of MAPK activity	TAS
GO:0002221	Process	Pattern recognition receptor signaling pathway	IDA	31649195
GO:0002227	Process	Innate immune response in mucosa	IEA
GO:0002253	Process	Activation of immune response	IEA
GO:0002367	Process	Cytokine production involved in immune response	IMP	16260731
GO:0002606	Process	Positive regulation of dendritic cell antigen processing and presentation	ISS
GO:0002710	Process	Negative regulation of T cell mediated immunity	IEA
GO:0002732	Process	Positive regulation of dendritic cell cytokine production	IEA
GO:0002830	Process	Positive regulation of type 2 immune response	IMP	21172192
GO:0002862	Process	Negative regulation of inflammatory response to antigenic stimulus	IEA
GO:0002925	Process	Positive regulation of humoral immune response mediated by circulating immunoglobulin	IEA
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, 27812135, 28436939, 30833792
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	21887730, 24790089, 25093298
GO:0005737	Component	Cytoplasm	TAS	15967716
GO:0005739	Component	Mitochondrion	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA	15998797, 31649195
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IDA	21887730
GO:0005886	Component	Plasma membrane	IDA	15998797, 25093298
GO:0006952	Process	Defense response	TAS	15967716
GO:0006965	Process	Positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria	IEA
GO:0007254	Process	JNK cascade	TAS
GO:0007584	Process	Response to nutrient	IEA
GO:0009595	Process	Detection of biotic stimulus	TAS	15967716
GO:0009986	Component	Cell surface	IDA	16714539
GO:0016045	Process	Detection of bacterium	IDA	15653568
GO:0016323	Component	Basolateral plasma membrane	IDA	16203728
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:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IEA
GO:0032495	Process	Response to muramyl dipeptide	IBA	21873635
GO:0032495	Process	Response to muramyl dipeptide	IDA	15998797, 16414084
GO:0032495	Process	Response to muramyl dipeptide	IMP	24790089
GO:0032498	Process	Detection of muramyl dipeptide	IDA	12527755, 15998797
GO:0032500	Function	Muramyl dipeptide binding	IDA	15998797
GO:0032689	Process	Negative regulation of interferon-gamma production	IEA
GO:0032695	Process	Negative regulation of interleukin-12 production	IEA
GO:0032701	Process	Negative regulation of interleukin-18 production	IEA
GO:0032703	Process	Negative regulation of interleukin-2 production	IEA
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	15107016
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IMP	21040358
GO:0032733	Process	Positive regulation of interleukin-10 production	ISS
GO:0032735	Process	Positive regulation of interleukin-12 production	IEA
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:0034136	Process	Negative regulation of toll-like receptor 2 signaling pathway	IEA
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
GO:0035556	Process	Intracellular signal transduction	IDA	15653568
GO:0038187	Function	Pattern recognition receptor activity	IDA	31649195
GO:0042742	Process	Defense response to bacterium	IBA	21873635
GO:0042742	Process	Defense response to bacterium	IDA	15653568
GO:0042834	Function	Peptidoglycan binding	IDA	15998797
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	21873635
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	11087742, 12527755
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0043406	Process	Positive regulation of MAP kinase activity	ISS
GO:0043552	Process	Positive regulation of phosphatidylinositol 3-kinase activity	ISS
GO:0044877	Function	Protein-containing complex binding	IPI	17337451
GO:0045087	Process	Innate immune response	IDA	23806334
GO:0045087	Process	Innate immune response	NAS	17690884
GO:0045089	Process	Positive regulation of innate immune response	IEA
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:0046658	Component	Anchored component of plasma membrane	IMP	31649195
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	IC	11385577
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0050871	Process	Positive regulation of B cell activation	IDA	20844241
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	11385577, 12527755, 21887730
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	16203728, 24790089
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS
GO:0051353	Process	Positive regulation of oxidoreductase activity	ISS
GO:0051770	Process	Positive regulation of nitric-oxide synthase biosynthetic process	ISS
GO:0051879	Function	Hsp90 protein binding	IDA	24790089
GO:0060585	Process	Positive regulation of prostaglandin-endoperoxide synthase activity	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0070423	Process	Nucleotide-binding oligomerization domain containing signaling pathway	TAS
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA	12527755, 23806334
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
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:0071407	Process	Cellular response to organic cyclic compound	IEA
GO:0071639	Process	Positive regulation of monocyte chemotactic protein-1 production	IEA
GO:0090022	Process	Regulation of neutrophil chemotaxis	IEA
GO:1900017	Process	Positive regulation of cytokine production involved in inflammatory response	IDA	24671169
GO:1901224	Process	Positive regulation of NIK/NF-kappaB signaling	IMP	25093298
GO:1902523	Process	Positive regulation of protein K63-linked ubiquitination	IMP	25891078
GO:1904417	Process	Positive regulation of xenophagy	IEA
GO:2000110	Process	Negative regulation of macrophage apoptotic process	ISS
GO:2000363	Process	Positive regulation of prostaglandin-E synthase activity	ISS

Other IDs

• MIM: 605956
• HGNC: 5331
• e!Ensembl: ENSG00000167207

Protein

• UniProt ID: 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

• Sequence:

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

• Sequence length: 1040

Pathways

KEGG:

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

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Aortic aneurysm	Aortic Aneurysm	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Asthma	Asthma, Childhood asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	21150878, 30929738, 30929738, 31036433
Autoinflammatory disease	Autoinflammatory disorder	rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924	4056967
Behcet syndrome	Behcet Syndrome	rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741
Blau syndrome	Blau syndrome	rs104895461, rs104895460, rs104895462, rs104895472, rs104895476, rs104895477, rs104895494, rs104895478, rs104895473, rs104895479, rs104895475
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Corneal dystrophy	Corneal Dystrophy, Band-Shaped	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Dermatitis	Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	19467619
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hypertension	Hypertensive disease	rs13306026, rs13333226
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	21983784, 18758464, 28450277, 17068223, 28067908, 26192919
Keratitis	Keratitis	rs587776571
Kidney disease	Kidney Diseases, Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Renal carcinoma	Conventional (Clear Cell) Renal Cell Carcinoma	rs121913668, rs121913670, rs121913243, rs786202724
Sarcoidosis	SARCOIDOSIS, EARLY-ONSET	rs2076530	15459013, 19467619
Vasculitis	Vasculitis of large artery	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease name	Disease term	dbSNP ID	References
Acne	Acne Vulgaris, Acne		27106250
Ankylosing spondylitis	Ankylosing spondylitis		26974007
Aphthous ulcer	Recurrent aphthous ulcer
Arthrocutaneouveal granulomatosis	SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)		11528384, 19467619, 19359344, 15459013, 19713276, 15190267, 19116920, 19479837, 20565245, 14522785, 4056967, 21335489, 27339507, 15086578, 15571588, 21274544, 26500656, 11425413, 20199415, 19169908, 11910337, 11385577, 25829188, 12019468, 15812565, 15024686, 25692065, 24713464, 24960071, 27812135, 22684479, 25093298, 12512038, 19479836, 22509093, 21983784, 15044951, 25136265, 25724124, 25416713, 18718560, 15770725, 17157607, 11385576, 18240302, 15198989, 21548950, 18489434
Bipolar disorder	Bipolar Disorder		25053139
Cholangitis	Cholangitis, Sclerosing		26974007
Crohn disease	Crohn Disease, Regional enteritis, NON RARE IN EUROPE: Crohn disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	18371140, 17435756, 20570966, 29795570, 22412388, 23128233, 17447842, 26974007, 18438406, 28067908, 21102463, 16485124, 17684544, 11385576, 18587394, 11385577, 22936669, 17804789, 17068223, 11528384, 17554300, 17568627, 15024686, 24790089, 27812135, 24960071, 19467619, 18240302, 15190267, 15812565, 19479836, 22509093, 21548950, 12019468, 12512038, 11528384, 22684479, 19713276, 17568627, 27339507, 14522785, 15770725, 21335489, 20565245, 15571588, 15459013, 11910337, 25093298, 19467619, 24713464, 11385577, 11385576, 21983784, 15044951, 18489434, 25416713, 15198989, 18438406, 25829188, 18371140, 18718560, 26500656, 25136265, 17435756, 11425413, 21274544, 17157607, 15024686
Crohn`s disease of large bowel	Crohn`s disease of large bowel		18371140, 11385576, 11528384, 19467619, 17568627, 17435756, 11385577, 18438406
Crohn`s disease of the ileum	Crohn`s disease of the ileum		18438406, 11385577, 17435756, 17568627, 18371140, 11528384, 11385576, 19467619
Cystoid macular edema	Macular Edema, Cystoid
Eczema	Eczema
Erythema nodosum	Erythema Nodosum
Facial paralysis	Facial paralysis
Hidradenitis suppurativa	Hidradenitis Suppurativa		27106250
Ileocolitis	IIeocolitis		11528384, 19467619, 18438406, 11385577, 18371140, 11385576, 17568627, 17435756
Intestinal obstruction	Intestinal Obstruction
Iridocyclitis	Iridocyclitis
Iritis	Iritis
Keratoconjunctivitis sicca	Keratoconjunctivitis Sicca
Nephrolithiasis	Nephrolithiasis
Nongranulomatous uveitis	Nongranulomatous uveitis
Oral ulcer	Oral Ulcer		30837455
Pericarditis	Pericarditis
Pleuritis	Pleurisy
Polyarthritis	Polyarthritis
Psoriatic arthritis	Arthritis, Psoriatic
Pyoderma gangrenosum	Pyoderma Gangrenosum		27106250
Retinal diseases	Retinal Diseases
Retrobulbar neuritis	Retrobulbar Neuritis
Synovitis	Synovitis
Tendinitis	Tendinitis
Ulcerative colitis	Ulcerative Colitis, NON RARE IN EUROPE: Ulcerative colitis		20452301, 26974007
Uveitis	Uveitis, Uveitis, Posterior
Ventricular hypertrophy	Ventricular hypertrophy
Yao syndrome	Yao syndrome	rs2066847, rs2066845, rs2066844, rs5743289, rs1567380372	26070941, 21914217