NOD2 (nucleotide binding oligomerization domain containing 2)

Gene

• Entrez ID: 64127
• Gene name: Nucleotide binding oligomerization domain containing 2
• Gene symbol: NOD2
• Synonyms (NCBI Gene): 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: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

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

• 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

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autoinflammatory syndrome	Likely pathogenic	rs925816831	RCV002262165	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Behcet disease	Pathogenic	rs886040969, rs746055479, rs752615209	RCV000258046 RCV000258056 RCV000258859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inflammatory bowel disease 1	Pathogenic	rs1264862631	RCV001784395	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Regional enteritis	Pathogenic; Likely pathogenic	rs104895494, rs104895473, rs104895479, rs104895475, rs104895461, rs104895462, rs104895476, rs104895477, rs2506403400	RCV005222745 RCV002513872 RCV002514475 RCV002513874 RCV002512784 RCV002512785 RCV003764528 RCV002512788 RCV003780084	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHIOLITIS OBLITERANS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1G	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn disease	association; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	association; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1G	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAFT-VS-HOST DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRANULOMATOUS INFLAMMATORY ARTHRITIS, DERMATITIS AND UVEITIS, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy, susceptibility to, 1	Uncertain risk allele; confers sensitivity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS, RELAPSING-REMITTING	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NOD2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NOONAN SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriatic arthritis, susceptibility to	Benign; Likely benign; Conflicting classifications of pathogenicity; association; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS, EARLY-ONSET	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS, PULMONARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yao syndrome	Uncertain significance; Conflicting classifications of pathogenicity; association; Benign; Likely benign	ClinVar CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	20646002		★☆☆☆☆ Found in Text Mining only
Acute Inflammatory Demyelinating Polyneuropathy	Inflammatory Demyelinating Polyneuropathy	BEFREE	27000222		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	17724347, 22445829		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	27335178		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	28633443		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	16965521, 28682159		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31991025	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	39290705	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31076443		★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	26953272	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	12115195, 12508397, 12595906, 15468360, 19530505, 30265175		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	19570052		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	Pubtator	19570052, 24336024	Associate	★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial Occlusive Disease	BEFREE	21903945		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16907704, 21903945, 23868940, 24626634, 29634657		★☆☆☆☆ Found in Text Mining only
Arteritis	Arteritis	Pubtator	12428248	Associate	★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	31556326	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	15693102, 15812565, 17096091, 18574154, 21788900, 22714396, 29933504, 30150283		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	17009307		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	17009307, 17968944, 19479837, 21914217, 24713464, 25416713, 29463017, 29933504, 30249847, 30574935, 36189202, 40350497	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Gouty	Gouty arthritis	Pubtator	27357501	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	25209167	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	12879366, 15140210, 16255050, 16402184, 36113963	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19180502, 22143988, 25652333, 26151758, 33904676	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	BEFREE	27357501		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	12879366, 14996755, 15140210, 15251084, 15468360, 15539411, 16255050, 16402184, 20346235, 21448648		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	LHGDN	12879366		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	15539411		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	12704363, 16008671, 23794710, 24722226, 27130862, 27889082, 29572197, 30950247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASDB_DG	21150878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	30929738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	30950247	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	16907704, 23868940, 24626634, 29634657		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	36199823	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16008671, 16773683, 18498289, 18574154, 19966812, 21750585, 22544929, 23102769, 26980698, 28592385		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	22244368, 29057049, 31718710		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	4056967		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	15515785, 16134731, 19748964, 21385537, 23633568, 26980698, 27791955, 30808881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	28814775, 30808881	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	25053139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	25053139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Birdshot Chorioretinopathy	Birdshot chorioretinopathy	Pubtator	23100559	Associate	★☆☆☆☆ Found in Text Mining only
Blau syndrome	Blau syndrome	Pubtator	12428248, 12626759, 14621080, 15044951, 15459013, 16935475, 17009307, 17393391, 17968944, 18718560, 19116920, 19180500, 19479836, 19479837, 19822951, 20039400, 21310790, 21914217, 22509093, 23124805, 24713464, 25093298, 25416713, 25829188, 26438151, 27625029, 28750667, 28836875, 29697845, 29933504, 30249847, 30574935, 31556326, 32597225, 32707200, 33602264, 34465352, 34775778, 34781959, 35125805, 36189202, 36192768, 37386644, 37415984, 37868966, 40350497	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Blau syndrome	Blau Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bone Diseases	Bone disease	Pubtator	25416713	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	16009674	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15666202, 16331346		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29165176, 29615116, 30791886	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	18158963, 30552907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiolitis Obliterans	Bronchiolitis obliterans	Pubtator	18158963	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	23562557, 31509436		★☆☆☆☆ Found in Text Mining only
Buruli Ulcer	Buruli ulcer	Pubtator	27128681	Associate	★☆☆☆☆ Found in Text Mining only
Canavan Disease	Canavan disease	Pubtator	29795570	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29615116, 30791886, 34268854	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19570052, 28960882, 34464323, 35242200	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16267612, 26238283, 28541685		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34002666	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	17968944	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30221681		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	19479837	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30221681		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20412372, 27004566		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20412372	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	17009307, 30882657, 37493686	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	30882657		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	27478098		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738, 31036433		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	18715515	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	23440434, 25922834		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	25922834	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic colitis	Colitis	BEFREE	17719742		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	21887730	Associate	★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	20298285		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29609537		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22437326		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21943069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Periodontitis	Periodontitis	BEFREE	15367194		★☆☆☆☆ Found in Text Mining only
Chronic Q Fever	Q Fever	BEFREE	25722298		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	20087966, 21745302, 25887140, 30702490		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	15667501, 16454837, 16542294, 16949315, 17379562, 17763471, 17983803, 19079230, 21099431, 21762661, 23281400, 23892723, 24671169, 25423082, 27230380, 27848951, 28045548, 30250234, 30651577, 31094420, 31132297, 31784737		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	24671169	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	12631669, 15637755, 15655821, 16840031, 18680223, 20027650, 20839241, 21304977, 21830272, 22269043, 24595243, 24651958, 26167078, 30430799, 37156999, 37205778	Associate	★☆☆☆☆ Found in Text Mining only
Colitis, Collagenous	Colitis	BEFREE	16804670		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15017626, 15666202		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	11875755, 12019468, 21830272	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10807284, 14996717, 15492242, 15578724, 15785318, 16510569, 17351900, 17389035, 18433468, 18758419, 19787357, 19843337, 20676658, 23281400, 24047397, 24682985, 24719038, 25148897, 26378020, 28045548, 29420429, 31338130		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15492242, 16510569, 18758419		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17389035, 18433468, 19570052, 19843337, 20676658, 26378020, 34198814, 35836259	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	28045548		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	20646002		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	20646002	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	BEFREE	26164256		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30903318		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy, Band-Shaped	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17980027, 21565239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	17980027, 21565239		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	27446957	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	17980027, 27446957	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17980027, 21565239, 27446957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	26521790		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	28765628	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10747815, 10807284, 11093274, 11113069, 11316159, 11318544, 11385576, 11385577, 11425413, 11515855, 11528384, 11778131, 11781683, 11834373, 11875755, 11910337, 11976792, 12019468, 12020527, 12032734, 12105836, 12105838, 12115195, 12122744, 12194982, 12198692, 12202985, 12210321, 12360101, 12389344, 12424621, 12459523, 12477763, 12486609, 12492195, 12508397, 12512038, 12514169, 12527755, 12529700, 12556233, 12557156, 12563685, 12577202, 12595627, 12595906, 12618963, 12626759, 12631668, 12631669, 12634858, 12649405, 12650796, 12671896, 12673278, 12676561, 12704363, 12710125, 12740340, 12776251, 12810925, 12823148, 12839543, 12840667, 12840668, 12840669, 12840672, 12851870, 12876555, 12879366, 12918095, 12923865, 12925128, 12928481, 12930309, 12940436, 12951869, 12970148, 13680285, 13680363, 14508222, 14550876, 14555911, 14564181, 14570728, 14571275, 14597055, 14621080, 14638352, 14683664, 14750643, 14752224, 14752334, 14762777, 14764625, 14971813, 14976156, 14996717, 15002819, 15008984, 15017626, 15024686, 15044951, 15046221, 15046222, 15052696, 15056084, 15075345, 15082587, 15090455, 15095853, 15107849, 15107852, 15140210, 15142196, 15145460, 15157820, 15157827, 15157828, 15168811, 15172669, 15180737, 15190267, 15198989, 15202784, 15207785, 15210486, 15212584, 15214053, 15251084, 15289769, 15302343, 15308118, 15308523, 15352887, 15352892, 15367194, 15468360, 15472511, 15479689, 15489579, 15492242, 15515785, 15516846, 15520108, 15527324, 15539413, 15551253, 15566351, 15571586, 15571588, 15618294, 15620634, 15620648, 15626887, 15626888, 15637755, 15643611, 15654786, 15655821, 15666202, 15667491, 15667501, 15674107, 15685536, 15712650, 15743002, 15754402, 15770725, 15785318, 15790594, 15795594, 15800781, 15803022, 15807862, 15812565, 15879155, 15904492, 15905704, 15910952, 15928043, 15930978, 15955743, 15955786, 15963781, 15967635, 15973116, 15973118, 15990626, 16000642, 16002353, 16008671, 16010583, 16024933, 16078858, 16115863, 16126943, 16133969, 16133971, 16134725, 16134731, 16148063, 16167972, 16174099, 16179784, 16186640, 16198136, 16207995, 16239840, 16244543, 16266221, 16278823, 16303101, 16306764, 16315780, 16344054, 16361305, 16373276, 16374251, 16393227, 16397396, 16402184, 16405541, 16416181, 16441470, 16446977, 16461743, 16485124, 16489646, 16493449, 16494109, 16510569, 16534425, 16542294, 16611251, 16614992, 16637007, 16669960, 16670523, 16675018, 16679026, 16706738, 16716969, 16741608, 16773683, 16793911, 16804397, 16804398, 16804402, 16819374, 16825909, 16907704, 16920047, 16935475, 16944184, 16949315, 16952484, 16961737, 16965521, 16987083, 17006998, 17012967, 17012971, 17020469, 17030188, 17057186, 17057187, 17100974, 17100976, 17101573, 17113749, 17119385, 17131470, 17131479, 17133095, 17156146, 17160430, 17174426, 17200669, 17206080, 17206667, 17206682, 17206688, 17251406, 17258734, 17260364, 17269998, 17278126, 17285593, 17301648, 17319929, 17325555, 17333217, 17351900, 17355968, 17359494, 17379562, 17385031, 17389014, 17389035, 17404888, 17410442, 17417801, 17435760, 17447842, 17451203, 17455206, 17457368, 17460484, 17484864, 17489054, 17498224, 17504508, 17508420, 17538984, 17548659, 17558494, 17558906, 17562858, 17568627, 17570063, 17593226, 17595233, 17613538, 17650222, 17652449, 17660460, 17661913, 17684544, 17690884, 17719603, 17719742, 17724347, 17786191, 17804789, 17852840, 17876878, 17894847, 17894849, 17907287, 17941075, 17941079, 17944996, 17948929, 17964870, 17980027, 18028374, 18031249, 18047539, 18069758, 18081650, 18088064, 18090989, 18092344, 18092345, 18096043, 18157816, 18162085, 18200510, 18213697, 18219096, 18240302, 18246054, 18248772, 18253730, 18305068, 18335190, 18340358, 18341489, 18371139, 18371140, 18383179, 18384487, 18397186, 18438406, 18473763, 18489434, 18507017, 18521914, 18521924, 18563169, 18598228, 18616576, 18622155, 18671817, 18680223, 18715515, 18718560, 18726145, 18753178, 18787464, 18804983, 18824555, 18938111, 18939941, 18942754, 19058231, 19079230, 19079235, 19094116, 19103524, 19184348, 19184350, 19262523, 19266573, 19319132, 19337309, 19349988, 19412005, 19426395, 19434699, 19455129, 19462432, 19467619, 19504613, 19570052, 19572373, 19573617, 19579029, 19592251, 19638967, 19647622, 19693669, 19713276, 19723304, 19748964, 19786745, 19805227, 19826411, 19838869, 19843337, 19856414, 19897957, 19907652, 19912254, 19948723, 19966812, 20027650, 20032092, 20066736, 20082483, 20087966, 20110711, 20144769, 20155851, 20182451, 20195604, 20200479, 20212355, 20232407, 20307617, 20373538, 20380008, 20403135, 20428899, 20506538, 20524760, 20531959, 20537165, 20616747, 20632099, 20637199, 20643110, 20646002, 20676658, 20679225, 20713205, 20850627, 20886065, 20936290, 20940596, 20959815, 21079743, 21097508, 21146253, 21206965, 21209938, 21213148, 21247480, 21248762, 21252204, 21274544, 21335489, 21337670, 21343918, 21381154, 21385537, 21391291, 21406388, 21421666, 21483259, 21560199, 21699783, 21716313, 21729873, 21730793, 21734346, 21734377, 21734790, 21739538, 21744420, 21750585, 21788900, 21830272, 21861185, 21887729, 21887730, 21931826, 22021194, 22139875, 22147245, 22152681, 22219593, 22233287, 22244368, 22253516, 22257839, 22266421, 22275320, 22285936, 22289211, 22319155, 22346247, 22397822, 22411504, 22412388, 22416979, 22426692, 22447396, 22464367, 22464675, 22469789, 22487796, 22543157, 22547678, 22605977, 22648194, 22664939, 22684479, 22732089, 22739221, 22796792, 23028907, 23071489, 23075873, 23075876, 23085276, 23173613, 23263249, 23287275, 23322906, 23328432, 23339926, 23352252, 23365659, 23376290, 23455702, 23493074, 23562557, 23615072, 23635032, 23709157, 23725363, 23751397, 23837874, 23850724, 23880069, 23892590, 23892723, 24047397, 24076061, 24223725, 24238340, 24247223, 24297055, 24345423, 24394805, 24407487, 24465786, 24574795, 24627602, 24635023, 24645728, 24651958, 24670424, 24671169, 24679666, 24682985, 24719038, 24752065, 24781050, 24782627, 24783249, 24790089, 24803813, 24913378, 24942515, 24942694, 24989722, 25053139, 25170077, 25259511, 25335775, 25365249, 25433720, 25469874, 25500977, 25520185, 25523553, 25664710, 25670499, 25809337, 25910289, 25944217, 25955312, 26000293, 26042516, 26070941, 26147989, 26153766, 26167078, 26316104, 26616659, 26752466, 26864060, 26946932, 26951181, 26953272, 27035071, 27107867, 27206769, 27290609, 27306066, 27404661, 27533749, 27693347, 27748583, 27791288, 27812135, 27848951, 27895399, 28052082, 28253332, 28404814, 28450278, 28452812, 28506689, 28520587, 28647345, 28668336, 28708377, 28765628, 28792733, 28826742, 28838408, 29055077, 29096557, 29441677, 29462388, 29568200, 29671171, 29743550, 29795570, 29980664, 30008619, 30030553, 30063981, 30069743, 30213296, 30250234, 30265311, 30284387, 30353760, 30430799, 30578751, 30648106, 30735346, 30774010, 30818349, 30893422, 31004013, 31084224, 31509436, 31723489, 31784737, 9541106		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Crohn Disease	Crohn disease	Pubtator	10747815, 11385577, 11875755, 12019468, 12105838, 12115195, 12194982, 12477763, 12514169, 12529700, 12577202, 12618963, 12626759, 12631669, 12776251, 12879366, 12970148, 14570728, 14621080, 15024686, 15044951, 15052696, 15090455, 15140210, 15194648, 15308523, 15479689, 15539413, 15620648, 15637755, 15655821, 15770725, 15807862, 15904492, 15928043, 16000642, 16021603, 16186640, 16207995, 16244543, 16255050, 16257953, 16266221, 16319062, 16402184, 16437728, 16461743, 16489646, 16637007, 16840031, 16935475, 17006998, 17131479, 17251406, 17389035, 17447842, 17451203, 17498224, 17548659, 17595233, 17660460, 17684544, 17786191, 17804789, 17907287, 17965060, 17980027, 18028374, 18069758, 18096043, 18157816, 18219096, 18258845, 18438406, 18507017, 18647548, 18680223, 18715515, 18718560, 18942751, 19094116, 19103524, 19185283, 19253375, 19337309, 19513023, 19570052, 19664207, 19679608, 19723304, 19826411, 19843337, 19907652, 19912254, 20027650, 20066736, 20082483, 20117335, 20155851, 20371648, 20380008, 20412372, 20483763, 20524760, 20531959, 20537165, 20637199, 20646002, 20676658, 20839241, 20857526, 20886065, 21079743, 21151126, 21209938, 21247480, 21304977, 21391291, 21530736, 21548950, 21559399, 21625457, 21730793, 21734346, 21734790, 21830272, 21887730, 21983784, 22147245, 22152681, 22233287, 22269043, 22275320, 22286692, 22319155, 22387394, 22393312, 22397822, 22411504, 22416979, 22440928, 22447396, 22464367, 22543157, 22605977, 22684479, 22730064, 22929019, 23028907, 23049214, 23071489, 23213202, 23287275, 23365659, 23376290, 23598818, 23615072, 23635032, 23836555, 23850724, 23892590, 24076061, 24297055, 24345423, 24465786, 24595243, 24627602, 24635023, 24651958, 24671169, 24781050, 24782627, 24803813, 24837102, 24901824, 25183734, 25259511, 25335775, 25365249, 25670499, 25891078, 25910289, 26042516, 26147989, 26151758, 26167078, 26215868, 26313894, 26953272, 27306066, 27404661, 27812135, 27895399, 27932194, 28052082, 28269885, 28404814, 28750667, 28765628, 28792733, 29065902, 29165176, 29358789, 29434451, 29462388, 29568200, 29671171, 29795570, 30167848, 30430799, 30648106, 30769939, 30818349, 31564248, 32463623, 32476786, 32514016, 32716958, 33059653, 33119074, 33692434, 33708009, 34198814, 34341249, 34380868, 34978330, 35182405, 35741735, 35913516, 36006803, 36161322, 36228581, 36972292, 37156999, 37205778, 37493686, 37657036, 40226707, 40542081, 9797357	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Crohn Disease	Crohn Disease	UNIPROT_DG	11385576, 15024686, 16485124, 24790089, 24960071, 27812135		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Crohn Disease	Crohn Disease	CTD_human_DG	11385576, 11385577, 11528384, 17435756, 17568627, 18371140, 18438406, 19467619		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Crohn Disease	Crohn Disease	LHGDN	11837220, 11890351, 12198692, 12454871, 12492195, 12514169, 12532667, 12556233, 12577202, 12617879, 12618963, 12626759, 12923865, 13680285, 14508222, 14638352, 14644139, 14690304, 14750643, 15002819, 15046221, 15046222, 15107849, 15168811, 15180737, 15320482, 15637755, 15655821, 15685536, 15770725, 15800781, 15930978, 16002353, 16115863, 16230083, 16416181, 16716969, 16773683, 16897777, 17131470, 17301648, 17319929, 17379562, 17451203, 17460484, 17476680, 17804789, 17852840, 18028374, 18047543, 18069758, 18253730, 18305068, 18340358, 18541930, 18594982, 18647548, 18787464, 18938111, 19103559		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Crohn Disease	Crohn disease	Pubtator	12740340	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Crohn Disease	Crohn Disease	GWASDB_DG	17068223, 17435756, 17447842, 17554300, 17684544, 17804789, 18587394, 20570966, 21102463, 22412388, 22936669, 23128233		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Crohn Disease	Crohn Disease	GWASCAT_DG	17435756, 17447842, 17554300, 17684544, 17804789, 18587394, 20570966, 21102463, 22412388, 22936669, 23128233, 26974007, 28067908		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Crohn Disease	Crohn disease	Pubtator	19948723	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Crohn Disease	Crohn Disease	GENOMICS_ENGLAND_DG	29795570		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	11385576, 11385577, 11528384, 17435756, 17568627, 18371140, 18438406, 19467619		★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	11385576, 11385577, 11528384, 17435756, 17568627, 18371140, 18438406, 19467619		★☆☆☆☆ Found in Text Mining only
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	BEFREE	19180500		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	25058850	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30760380		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27640899, 31652348		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	40226707	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	14516815, 22714396, 23102769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	LHGDN	17009307		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	CTD_human_DG	19467619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	Pubtator	21914217, 30574935, 36189202, 37868966	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis Atopic	Atopic dermatitis	Pubtator	23892590, 27077833	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	21335489, 23892590		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	26070941		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28592385, 30221681		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28592385, 30221681		★☆☆☆☆ 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	16198136, 28592385		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24018334, 27885704		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	30221681		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	23594678, 25528059, 28137583		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	21124956		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	21124956	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	31237655		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	15666202		★☆☆☆☆ Found in Text Mining only
Dysbiosis	Dysbiosis	Pubtator	26556047, 28633443, 30818349	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinesia Familial with Facial Myokymia	Dyskinesia, familial, with facial myokymia	Pubtator	20380008	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	21621776		★☆☆☆☆ Found in Text Mining only
Dyspepsia	Dysphasia	Pubtator	19570052	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	23892590		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	20646321, 32319602, 35442481	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	23935397	Stimulate	★☆☆☆☆ Found in Text Mining only
Enteritis	Enteritis	BEFREE	23558906		★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	BEFREE	20850627, 28752081		★☆☆☆☆ Found in Text Mining only
Erysipelas	Erysipelas	BEFREE	22244368		★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Erythema nodosum	BEFREE	17206080		★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Erythema nodosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	39290705, 40350497	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastric lymphoma	Gastric lymphoma	BEFREE	16819970		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	19570052	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastritis	Gastritis	BEFREE	20332463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	19570052	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	19570052, 29462388		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	19570052, 21173700	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal inflammation	Gastrointestinal inflammation	BEFREE	19966812		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	19570052, 29615116	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	29795570	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31093481		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	30702490	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35123435	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24671169		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	15090455, 19912254, 20541026, 24345423, 24393249, 29142307, 29165176	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	15090455, 16773683, 16804402, 17018387, 19896081, 19912254, 21573891, 21750585, 28253332, 29142307, 29165176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graft-vs-Host Disease	Graft-Vs-Host Disease	LHGDN	15090455, 17666747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatosis	Granulomatosis	BEFREE	12428248, 19116920, 28587749		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	12563685		★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	16935475, 22129508	Associate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	27000222		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	15190267, 16489646, 17260364, 18069758, 18647548, 19253375, 19337309, 19638967, 19907652, 20027650, 20066736, 21734790, 23837874		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	18382655		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	LHGDN	18382655		★☆☆☆☆ Found in Text Mining only
Hereditary macular coloboma	Coloboma of macula	BEFREE	30882657		★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	26675490		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	29933504	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	25528059, 28373658		★☆☆☆☆ Found in Text Mining only
Hyperimmunoglobulinemia D	Hyperimmunoglobulinemia	BEFREE	29108670		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28373658		★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Portal hypertension	Pubtator	30702490	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29560100		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	16315780		★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	11385576, 11385577, 11528384, 17435756, 17568627, 18371140, 18438406, 19467619		★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	BEFREE	15489579, 16437728, 17763471		★☆☆☆☆ Found in Text Mining only
Ileitis	Ileitis	BEFREE	15489579, 17763471, 19079235, 19230854, 21337672, 21381154, 27848951, 28506689		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	29165176, 35311449	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	26153766		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31652348		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Disease 25 Autosomal Recessive	Inflammatory bowel disease	Pubtator	28404814, 30709874	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10439963, 10663555, 10747815, 11093274, 11309682, 11318544, 11425413, 11752413, 11778131, 11875755, 11910337, 12073072, 12115195, 12198692, 12477763, 12631669, 12634858, 12650796, 12776251, 12918095, 12951869, 13680363, 14564181, 14752224, 14976156, 14990386, 15002819, 15046221, 15052696, 15194648, 15207785, 15308118, 15352887, 15527324, 15578724, 15637755, 15643611, 15654786, 15655821, 15790594, 15840688, 15863472, 15930978, 15967635, 16134725, 16279904, 16344053, 16361305, 16373276, 16374251, 16454837, 16485124, 16493449, 16642031, 16670523, 16679026, 16706738, 16741608, 16819374, 16840031, 16920047, 16987083, 17100974, 17101573, 17174426, 17206636, 17206667, 17251406, 17278126, 17355968, 17389014, 17389035, 17404888, 17410442, 17451203, 17484863, 17489054, 17538984, 17558906, 17570063, 17600381, 17613538, 17628615, 17786191, 17892524, 17894849, 17948929, 17978873, 18047543, 18081650, 18096043, 18246054, 18297430, 18371139, 18563169, 18647548, 18680223, 18753178, 18756601, 19098858, 19184350, 19262523, 19275920, 19455129, 19530505, 19570976, 19575361, 19686419, 19897957, 19915667, 20082483, 20155851, 20177049, 20857526, 21099431, 21155887, 21209938, 21218092, 21248762, 21729873, 22664939, 22719818, 22739221, 22810105, 22955361, 23075873, 23085276, 24574795, 24595243, 24719038, 24942515, 25259511, 25281418, 26147989, 26167078, 26316104, 26490195, 26512716, 26604638, 26752461, 26752466, 26836588, 27230380, 27335178, 27563808, 27664279, 27693347, 27706808, 27748583, 27812135, 28404137, 28450277, 28452812, 28506689, 28633443, 28658623, 28895120, 28961700, 29055077, 29248579, 29593342, 29697845, 29806140, 29893034, 30008619, 30012848, 30041769, 30200338, 30213296, 30250234, 30265311, 30353760, 30425977, 30430799, 30578751, 30818349, 31052430, 31063017, 31094420, 31132297, 31338130, 31651650, 9541106, 9636179, 9797357		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	11752413, 11875755, 12617879, 12671897, 14690304, 14747834, 15967635, 16257953, 16485124, 16819374, 17892524, 17978873, 18680223, 18756601		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	11752413, 12626759, 12631669, 15194648, 15194649, 15637755, 15655821, 16257953, 16840031, 17451203, 17595233, 18096043, 18647548, 18680223, 18698678, 19230040, 19253375, 19337309, 19513023, 19570976, 19723304, 19907652, 20027650, 20066736, 20412372, 20531959, 20839241, 21088407, 21734346, 21983784, 22269043, 22496383, 22543157, 22719818, 24595243, 24611904, 24901824, 25259511, 26098103, 26147989, 26167078, 26278503, 26490195, 26836588, 26953272, 27664279, 27802154, 27812135, 27932194, 28422189, 28633443, 29228965, 29593342, 29697845, 30430799, 30709874, 30818349, 30849075, 31063017, 32463623, 33059653, 33692434, 34758847, 34978330, 35741735, 36847442, 36983040, 37708849, 38199515, 39372397	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	17068223, 18758464, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	17068223, 18758464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	CTD_human_DG	21983784, 26192919, 28450277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35578687	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	12626759, 16397396, 17719603, 17719742, 20144769, 20531959, 20580721, 23281400, 27206769, 27306066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Diseases	Intestinal disease	Pubtator	27306066, 29142307	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Perforation	Intestinal Perforation	BEFREE	26752461		★☆☆☆☆ Found in Text Mining only
Iridocyclitis	Iridocyclitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iritis	Iritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	19809335		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	13680363, 15654786, 17101573, 22719818, 24942515, 25281418, 28961700		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	19570052	Associate	★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	Pubtator	34465352	Associate	★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	31186034, 32596371	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	24393249		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	19479837, 19679608	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29609537		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	35478773	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	20018961, 20350193, 21637794, 22447076, 26151758, 28715406, 30289892, 32433683, 36877680, 36972292	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy	Leprosy	BEFREE	20350193, 20936290, 22170299, 22289211, 22447076, 25367361, 29538758, 30289892		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	LHGDN	17724347		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21745515		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36076988	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21573891, 23558906		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	23558906		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21745302, 28960882		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	20087966, 21745302, 25887140, 28765628, 30702490		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	25887140, 28765628	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	18715515	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	24345423	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	18647246	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	17393391, 40350497	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	17393391		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	LHGDN	17393391		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16267612		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21886831	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12649405, 16642031, 21886831, 25652333		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus nephritis	Pubtator	31186034	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Syndrome, X-Linked, 2	Lymphoproliferative Disorder	BEFREE	24611904, 24942515, 26953272		★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Majeed syndrome	Majeed Syndrome	BEFREE	20032092		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15666202, 16331346, 29165176		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	19570052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	29254180		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	16331346		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16267612, 26238283, 28541685		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18507017, 19397946, 22563200, 23824692, 24047397, 25933107		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11778131, 15666202, 15785318, 16510569, 20230816, 20412372, 21745515, 24586700, 29055802		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15017626		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15666202		★☆☆☆☆ Found in Text Mining only
Mannose-Binding Protein Deficiency	Mannose-Binding Protein Deficiency	BEFREE	24086711		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15785318		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	34903008	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27640899, 31652348		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	20118240		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26052894, 28373658		★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	19180500		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	16819970		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32596371, 34623759	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	16642031		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21625457	Associate	★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	25335775		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35229543	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	28912259		★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	16133969, 26752461		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	16133969, 16385250, 20580721, 26752461		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16510569, 19679065, 28960882, 29697845, 30903318		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	17372766		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	23558906		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	26953272		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Crohn disease	Crohn disease	Orphanet			★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Ulcerative colitis	Ulcerative colitis	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28075581		★☆☆☆☆ Found in Text Mining only
Nongranulomatous uveitis	Nongranulomatous uveitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	LHGDN	15666202		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28373658, 28434881, 29657325		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30760380	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28778866, 30799399		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	23635032		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	23635032, 32578848	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	29933504		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	Pubtator	29933504	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	31314190	Associate	★☆☆☆☆ Found in Text Mining only
Panuveitis	Panuveitis	Pubtator	23124805, 25209167	Associate	★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	16207995, 17251406, 17652449, 23455702		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23651603, 30157869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	23651603, 31146602, 36972292	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	23651603		★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	12563685		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	28591691		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	16819970		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	33399167	Associate	★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	Pubtator	19479837	Associate	★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	15279649		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	15279649, 15367194, 23688098		★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	34464323	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	30702490, 34464323	Associate	★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	21788900		★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	19479836, 19479837, 29933504		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	22440928		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	17100974		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35638715	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	31186034	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	12459523, 12930309, 15140210, 15377357, 15539411, 16402184, 19554025, 21448648		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	16402184, 19554025	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	12930309, 15539411		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36655999	Associate	★☆☆☆☆ Found in Text Mining only
Pustular psoriasis	Pustular Psoriasis	BEFREE	12930309		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	16303101		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	18758419		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	11385576, 11385577, 11528384, 17435756, 17568627, 18371140, 18438406, 19467619		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Regional enteritis	Crohn Disease	CLINVAR_DG	11385576, 11385577, 11425413, 11528384, 11910337, 12019468, 12512038, 14522785, 15024686, 15044951, 15190267, 15198989, 15459013, 15571588, 15770725, 15812565, 17157607, 18240302, 18489434, 18718560, 19479836, 19713276, 20565245, 21274544, 21335489, 21548950, 21983784, 22509093, 22684479, 24713464, 25093298, 25136265, 25416713, 25829188, 26500656, 27339507		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal carcinoma	Renal Carcinoma	BEFREE	29254180		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	37493686	Associate	★☆☆☆☆ Found in Text Mining only
Retrobulbar Neuritis	Retrobulbar Neuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12595627, 12810925, 16134725, 16977346, 18574154, 19180502, 22143988, 25652333, 28240593, 30213700, 31497189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	29560100		★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	BEFREE	15308523, 15352892, 17725592		★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	Pubtator	15308523, 17725592	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	14597055, 14621080, 16315780, 16397396, 16933467, 16935475, 17393391, 18384487, 19679608, 20298285, 21388357, 29554915		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	LHGDN	15459013, 16933467, 17009307, 19116920		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	15459013, 17009307, 17393391, 17968944, 19116920, 20039400, 21310790, 25093298, 28621099, 28836875, 29463017, 29554915, 33602264, 33929124, 37868966	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis Pulmonary	Sarcoidosis	Pubtator	19679608	Associate	★☆☆☆☆ Found in Text Mining only
SARCOIDOSIS, EARLY-ONSET	Sarcoidosis	CTD_human_DG	15459013, 19467619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	23562557, 31509436		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	18647246, 24345423	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	14739370, 17206682, 17558494, 21460759, 22575870, 23558906, 24345423, 24465786		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	21914217	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	20472585		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	12115195, 19530505		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	LHGDN	12115195		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	12115195	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35574984	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	18507017, 19397946, 22563200, 23824692, 24047397, 25933107		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	25933107	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18507017, 19189651, 22563200, 25933107	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	CLINVAR_DG	11385576, 11385577, 11425413, 11528384, 11910337, 12019468, 12512038, 14522785, 15024686, 15044951, 15190267, 15198989, 15459013, 15571588, 15770725, 15812565, 17157607, 18240302, 18489434, 18718560, 19479836, 19713276, 20565245, 21274544, 21335489, 21548950, 21983784, 22509093, 22684479, 24713464, 25093298, 25136265, 25416713, 25829188, 26500656, 27339507		★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	BEFREE	11528384, 12428248, 12563685, 12626759, 12925128, 14516815, 14522785, 14597055, 14621080, 15044951, 15459013, 15554080, 15693102, 15812565, 16303101, 16724804, 16804402, 16935475, 17096091, 17157607, 17206682, 17207093, 17372104, 17379562, 17393391, 17690884, 17719742, 17916199, 17968944, 18031249, 18384487, 18616576, 18718560, 19116920, 19169908, 19180500, 19467619, 19479836, 19479837, 19822951, 20039400, 20199415, 20298285, 20565245, 21097508, 21310790, 21320290, 21596301, 21788900, 22464675, 22509093, 22714396, 22821420, 22884558, 23124805, 23352252, 24010719, 24445386, 24713464, 25093298, 25381727, 25416713, 25429073, 25520185, 26164256, 26606664, 26768519, 27339507, 27419275, 27625029, 28130683, 28253332, 28587749, 28639104, 28836875, 29538758, 29570830, 29933504, 30806112, 31541486, 31543536, 31718710, 31760574		★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	CTD_human_DG	11528384, 15086578, 15459013, 19467619		★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	GENOMICS_ENGLAND_DG	11528384, 4056967		★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	UNIPROT_DG	11528384, 15459013, 15812565, 19116920, 19169908, 19359344, 19479837, 20199415, 24960071, 25093298, 25692065, 25724124, 27812135		★☆☆☆☆ Found in Text Mining only
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	Arthrocutaneouveal granulomatosis	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	BEFREE	29909561		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	22821420, 22859352		★☆☆☆☆ Found in Text Mining only
Tendinitis	Tendinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30791886, 31072371	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10807284, 11093274, 11318544, 11425413, 11778131, 11875755, 12115195, 12631669, 12918095, 12923865, 14570728, 14976156, 15046221, 15052696, 15142196, 15157820, 15637755, 15638227, 15655821, 15685536, 15790594, 16010583, 16239841, 16279904, 16344054, 16361305, 16441470, 16485124, 16493449, 16741608, 16840031, 16944184, 17012967, 17100976, 17251406, 17389014, 17455206, 17661913, 17786191, 17892524, 17894849, 17944996, 17948929, 18092344, 18438406, 18500230, 18680223, 18756601, 18938111, 18942754, 18972554, 19079235, 19253375, 19275920, 19786745, 20027650, 20082483, 20452301, 21248762, 21729873, 21734346, 21830272, 22257839, 22426692, 22796792, 23075873, 23085276, 23709157, 24145928, 24595243, 24651958, 24783249, 26147989, 26167078, 26316104, 27107867, 27693347, 27895399, 29055077, 30213296, 30265311, 30430799, 31030191, 9541106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	LHGDN	12617879, 15046221, 15655821, 17876878, 17892524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	20452301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35478773	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37400149	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	14516815, 14597055, 17009307, 17157607, 18219096, 18384487, 19822951, 20565245, 21788900, 22714396, 24010719, 27419275		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	LHGDN	14516815, 14522785, 17009307		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	17009307, 19479837, 19822951, 25209167, 26438151, 29933504, 30249847, 30574935, 32707200, 36189202, 40350497	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveitis, Posterior	Uveitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	26980698		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	31186034	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis of large artery	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	19116920, 25416713, 37386644	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	19948723		★☆☆☆☆ Found in Text Mining only
Yao syndrome	Yao Syndrome	UNIPROT_DG	21914217, 26070941		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Yao syndrome	Yao Syndrome	BEFREE	23102769, 23352252, 26070941, 26164256, 29471675, 30159790, 31084224		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Yao syndrome	Yao Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Yao syndrome	Yao Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)