PTPN22 (protein tyrosine phosphatase non-receptor type 22)

Gene

• Entrez ID: 26191
• Gene name: Protein tyrosine phosphatase non-receptor type 22
• Gene symbol: PTPN22
• Synonyms (NCBI Gene): LYP, LYP1, LYP2, PEP, PTPN22.5, PTPN22.6, PTPN8
• Chromosome: 1
• Chromosome location: 1p13.2
• Summary: This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved i

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT023898	hsa-miR-1-3p	Microarray	18668037
MIRT053420	hsa-miR-624-3p	Microarray	23807165
MIRT736344	hsa-miR-665	Microarray, qRT-PCR	33430866
MIRT1275404	hsa-miR-4270	CLIP-seq
MIRT1275405	hsa-miR-4423-3p	CLIP-seq
MIRT1275406	hsa-miR-4441	CLIP-seq
MIRT1275407	hsa-miR-181a	CLIP-seq
MIRT1275408	hsa-miR-181b	CLIP-seq
MIRT1275409	hsa-miR-181c	CLIP-seq
MIRT1275410	hsa-miR-181d	CLIP-seq
MIRT1275411	hsa-miR-3671	CLIP-seq
MIRT1275412	hsa-miR-4262	CLIP-seq
MIRT1275413	hsa-miR-502-5p	CLIP-seq
MIRT1275414	hsa-miR-607	CLIP-seq
MIRT2439710	hsa-miR-1305	CLIP-seq
MIRT2439711	hsa-miR-4328	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	10068674, 16461343, 18056643, 27043286
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	TAS
GO:0004726	Function	Non-membrane spanning protein tyrosine phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	10068674, 11882361, 16461343, 19167335, 21719704, 23871208, 24658140, 25040622, 31980649, 35152348
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10940933
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10068674, 10940933
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	20401454
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006914	Process	Autophagy	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	10940933
GO:0010507	Process	Negative regulation of autophagy	IMP	23991106
GO:0010628	Process	Positive regulation of gene expression	IMP	23871208, 23991106
GO:0010629	Process	Negative regulation of gene expression	IMP	23991106
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IDA	23991106
GO:0017124	Function	SH3 domain binding	ISS
GO:0019900	Function	Kinase binding	ISS
GO:0030217	Process	T cell differentiation	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23871208
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	IMP	23991106
GO:0032481	Process	Positive regulation of type I interferon production	IMP	23871208
GO:0032496	Process	Response to lipopolysaccharide	IMP	23871208
GO:0032715	Process	Negative regulation of interleukin-6 production	IMP	23991106
GO:0032717	Process	Negative regulation of interleukin-8 production	IMP	23991106
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IMP	23991106
GO:0032729	Process	Positive regulation of type II interferon production	IMP	23991106
GO:0032817	Process	Regulation of natural killer cell proliferation	IDA	20522204
GO:0034141	Process	Positive regulation of toll-like receptor 3 signaling pathway	IMP	23871208
GO:0034145	Process	Positive regulation of toll-like receptor 4 signaling pathway	IMP	23871208
GO:0035644	Process	Phosphoanandamide dephosphorylation	ISS
GO:0043508	Process	Negative regulation of JUN kinase activity	IMP	23991106
GO:0045088	Process	Regulation of innate immune response	IBA
GO:0045088	Process	Regulation of innate immune response	IC	20522204
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10068674
GO:0050852	Process	T cell receptor signaling pathway	IBA
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0050855	Process	Regulation of B cell receptor signaling pathway	NAS	19265110
GO:0050856	Process	Regulation of T cell receptor signaling pathway	IEA
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	IDA	18056643
GO:0050868	Process	Negative regulation of T cell activation	IBA
GO:0050868	Process	Negative regulation of T cell activation	IMP	18299186
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	23991106
GO:0070433	Process	Negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP	23991106
GO:0071225	Process	Cellular response to muramyl dipeptide	IDA	23991106
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IDA	27043286
GO:1901222	Process	Regulation of non-canonical NF-kappaB signal transduction	IBA
GO:1901222	Process	Regulation of non-canonical NF-kappaB signal transduction	IMP	23991106
GO:1902523	Process	Positive regulation of protein K63-linked ubiquitination	IMP	23871208
GO:1903753	Process	Negative regulation of p38MAPK cascade	IMP	23991106

Other IDs

• MIM: 600716
• HGNC: 9652
• e!Ensembl: ENSG00000134242

Protein

• UniProt ID: Q9Y2R2
• Protein name: Tyrosine-protein phosphatase non-receptor type 22 (EC 3.1.3.48) (Hematopoietic cell protein-tyrosine phosphatase 70Z-PEP) (Lymphoid phosphatase) (LyP) (PEST-domain phosphatase) (PEP)
• Protein function: Acts as a negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules (PubMed:16461343, PubM
• PDB: 2P6X, 2QCJ, 2QCT, 3BRH, 3H2X, 3OLR, 3OMH, 4J51, 7AAM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00102	Y_phosphatase	54 → 288	Protein-tyrosine phosphatase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in bone marrow, B and T-cells, PBMCs, natural killer cells, monocytes, dendritic cells and neutrophils (PubMed:15208781). Both isoform 1 and 4 are predominantly expressed in lymphoid tissues and cells. Isoform 1 is expressed
• Sequence:

  MDQREILQKFLDEAQSKKITKEEFANEFLKLKRQSTKYKADKTYPTTVAEKPKNIKKNRY
  KDILPYDYSRVELSLITSDEDSSYINANFIKGVYGPKAYIATQGPLSTTLLDFWRMIWEY
  SVLIIVMACMEYEMGKKKCERYWAEPGEMQLEFGPFSVSCEAEKRKSDYIIRTLKVKFNS
  ETRTIYQFHYKNWPDHDVPSSIDPILELIWDVRCYQEDDSVPICIHCSAGCGRTGVICAI
  DYTWMLLKDGIIPENFSVFSLIREMRTQRPSLVQTQEQYELVYNAVLELFKRQMDVIRDK
  HSGTESQAKHCIPEKNHTLQADSYSPNLPKSTTKAAKMMNQQRTKMEIKESSSFDFRTSE
  ISAKEELVLHPAKSSTSFDFLELNYSFDKNADTTMKWQTKAFPIVGEPLQKHQSLDLGSL
  LFEGCSNSKPVNAAGRYFNSKVPITRTKSTPFELIQQRETKEVDSKENFSYLESQPHDSC
  FVEMQAQKVMHVSSAELNYSLPYDSKHQIRNASNVKHHDSSALGVYSYIPLVENPYFSSW
  PPSGTSSKMSLDLPEKQDGTVFPSSLLPTSSTSLFSYYNSHDSLSLNSPTNISSLLNQES
  AVLATAPRIDDEIPPPLPVRTPESFIVVEEAGEFSPNVPKSLSSAVKVKIGTSLEWGGTS
  EPKKFDDSVILRPSKSVKLRSPKSELHQDRSSPPPPLPERTLESFFLADEDCMQAQSIET
  YSTSYPDTMENSTSSKQTLKTPGKSFTRSKSLKILRNMKKSICNSCPPNKPAESVQSNNS
  SSFLNFGFANRFSKPKGPRNPPPTWNI

• Sequence length: 807

Pathways

Reactome:

Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
ARTHRITIS, PSORIATIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROIDITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
chronic fatigue syndrome with infection-triggered onset	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE OPHTHALMOPATHY	—	Disgenet	★★☆☆☆ 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'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes mellitus, insulin-dependent, susceptibility to	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GIANT CELL ARTERITIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAFT-VS-HOST DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRANULOMATOSIS WITH POLYANGIITIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES OPHTHALMOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HASHIMOTO'S THYROIDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE PAUCIARTICULAR CHRONIC ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET MYASTHENIA GRAVIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATENT AUTOIMMUNE DIABETES IN ADULTS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENIERE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHIC OPHTHALMOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS, RHEUMATOID FACTOR NEGATIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTPN22-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid arthritis	Uncertain significance	ClinVar ClinVar, Disgenet, GWAS catalog, GenCC ClinVar, Disgenet, GWAS catalog, GenCC ClinVar, Disgenet, GWAS catalog, GenCC ClinVar, Disgenet, GWAS catalog, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RHEUMATOID FACTOR-NEGATIVE POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICCA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGRENS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	ClinVar, Disgenet, GWAS catalog, Orphanet ClinVar, Disgenet, GWAS catalog, Orphanet ClinVar, Disgenet, GWAS catalog, Orphanet ClinVar, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS 1	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEOMENINGOENCEPHALITIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VOGT-KOYANAGI-HARADA DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	25814225		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	16273109, 16322396, 18301444, 19500759, 23076337		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	LHGDN	18301444		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	27936393		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	18821667		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	27888068, 27917628		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	16829308, 18028494, 23570882, 24055692, 31096440		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	16829308, 18028494, 23570882, 24055692, 31096440		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	LHGDN	18028494		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	GWASCAT_DG	25608926		★☆☆☆☆ Found in Text Mining only
Alopecia universalis	Alopecia	BEFREE	24055692		★☆☆☆☆ Found in Text Mining only
amyloidosis IX	Amyloidosis	Pubtator	26405069	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	17034023	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Pernicious	Pernicious anemia	Pubtator	34145262	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	25814225	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	24212676, 24749936, 24816862, 25755798, 28555069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anterior uveitis	Uveitis	BEFREE	23559857		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	21923648		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	24985973	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29106801		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29106801		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	17034023		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17223967, 18248681, 20822712, 21846984, 26410585, 27423327, 31191743		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	16175503, 16277672		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	17135225, 17341507, 18535030, 23871208, 30306282		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	17666450, 35152348	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	15934099, 16464986, 17666451, 19116933, 19674979, 20072139, 20722033, 23603761, 25781893, 27107590, 27215233	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	15934099, 16507123, 21410964	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	15208781, 15273934, 15641066, 15719322, 15934099, 15986374, 16175503, 16277672, 16320352, 16380915, 16385499, 16464986, 16507117, 16507123, 16635271, 16868974, 17133579, 17170052, 17179172, 17237219, 17436241, 17472988, 17553139, 17666450, 17666451, 17804836, 18056643, 18305142, 18462498, 18648537, 19343596, 19445664, 19714582, 19714585, 19741008, 20090771, 20353580, 20975833, 21044313, 21190368, 21279993, 21492465, 21496252, 22355377, 22426112, 22427951, 22661643, 22937072, 22952725, 23121884, 23242182, 23450725, 24731866, 25014791, 25138370, 26547712, 27092776, 27215233, 27777982, 27906052, 28874816, 29388193, 29423382, 30402903, 31030958, 32888428, 33059697, 33740106, 34445589, 34733271, 35470158, 37108746	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22355377	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28874816	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	15934099, 16507123, 21410964, 22544573, 25923216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis, Psoriatic	Psoriatic Arthritis	LHGDN	16456530, 16507123		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASDB_DG	21150878		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27917628		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	27917628, 31759816	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	22952725	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17223967, 18248681, 20822712, 21846984, 26410585, 27423327, 31191743		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	17223967	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19546859	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	27406031, 28977835, 30291855		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	15208781, 15504986, 16052563, 16163373, 16273109, 16671954, 16697661, 17092257, 18200060, 18426414, 18576360, 18580482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	15208781, 15719322, 15934099, 16052563, 16277672, 16339849, 16385499, 16464986, 16507123, 16539704, 17034023, 17133608, 17223967, 17230194, 17237219, 17553139, 17660222, 18056643, 18200060, 18204446, 18305142, 18341666, 18759295, 18981062, 19180477, 19265110, 19343596, 19796918, 20131239, 20166877, 20594861, 20696024, 20854658, 20942939, 20975833, 21044313, 21190368, 21410964, 21543514, 21719704, 21804190, 22105996, 22237046, 22426112, 22493691, 22569400, 22952725, 23025987, 23098231, 23333624, 23559857, 23950893, 25781893, 26405068, 26782543, 27215233, 27406031, 27847023, 28437437, 28723925, 29388193, 30384852, 30664875, 30705675, 30979725, 31722988, 31759816, 32184287, 32328064, 34301848, 35008834, 35355982, 35933036, 36961507, 37108746	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15273934, 15504986, 15620463, 15641066, 15759012, 15790351, 15875058, 15883854, 15933742, 15934099, 16015369, 16052563, 16112033, 16163373, 16164701, 16175503, 16229750, 16273109, 16277672, 16279843, 16339849, 16385499, 16412690, 16464986, 16507123, 16539704, 16614815, 16671953, 16671954, 16678435, 16690411, 16690758, 16697661, 16731003, 16760194, 16829308, 16890892, 16893384, 17000021, 17034023, 17066073, 17092257, 17133608, 17223967, 17230194, 17237219, 17259401, 17369021, 17452059, 17553139, 17608818, 17660222, 17661906, 17729039, 17868256, 17934143, 17961776, 17989522, 18028494, 18056643, 18056891, 18075792, 18179648, 18194365, 18200060, 18299186, 18303998, 18305142, 18426414, 18498289, 18576360, 18578611, 18580482, 18759295, 18781189, 18981062, 19107641, 19177473, 19180256, 19180477, 19188433, 19210878, 19210888, 19237203, 19265110, 19299707, 19343596, 19343617, 19406179, 19473815, 19500759, 19503742, 19693092, 19714585, 20039785, 20070289, 20090771, 20166877, 20192991, 20438787, 20510318, 20615141, 20629510, 20696024, 20739780, 20854658, 20975833, 21131644, 21287672, 21384170, 21410964, 21467606, 21515266, 21543514, 21585555, 21597364, 21804190, 21908482, 21965649, 22003931, 22069277, 22105996, 22209972, 22357962, 22396730, 22493691, 22569400, 22704547, 22722472, 22809281, 22857794, 23076337, 23098231, 23193160, 23261816, 23333624, 23359562, 23463390, 23499775, 23559857, 23570882, 23871208, 23913970, 23946333, 23950893, 24055692, 24083984, 24188455, 24189282, 24269925, 24333531, 24364806, 24665115, 24913133, 25003765, 25040563, 25040622, 25073032, 25119822, 25125338, 25523449, 25715232, 25781893, 25795788, 25896041, 26291515, 26405068, 26405072, 26438525, 26458874, 26467974, 26782543, 27043286, 27288719, 27406031, 27807193, 27866840, 27888068, 27892782, 28237724, 28291534, 28375784, 28437437, 28500376, 28627089, 28723925, 28747914, 28874816, 28948613, 29105157, 29116089, 29388193, 29409002, 29512901, 29666305, 29729713, 29762907, 29895027, 29980767, 30054208, 30139951, 30384852, 30439564, 30470857, 30871019, 30979725, 31107248, 31759816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	21341673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	23055271, 30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	23333624	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	16391555, 20438787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune thyroiditis	Autoimmune Thyroiditis	GWASCAT_DG	22922229, 25936594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29916538		★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	31174203		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	31174203		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	17660222, 17868256, 22396730, 27050764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	LHGDN	17660222, 17868256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	17660222, 33971891	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary cirrhosis	Biliary cirrhosis	LHGDN	16671954		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	28602833		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16028413, 27896591, 28666009, 30660694		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12354757, 20335174, 24152909, 28666009, 29183848, 35739379	Associate	★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	21190368, 30224649		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	31138732		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	28474336	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	39862807	Associate	★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	27467733	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18240242, 31392651		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	15875058, 16112033, 16793522, 19073967, 26782543, 28627089, 29207979		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	19073967, 19951419, 26782543, 27215233	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28602833		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	18279381, 19577641, 27987133, 28602833		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	27917628		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20534982, 22569400		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	26429315		★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	22237046		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	20101775, 23871208, 23913970, 31107248, 31194881		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	21287672, 21830272, 22952725, 24971461, 30384859	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28880032		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	21830272	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16611738	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	BEFREE	27866840		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	18821667, 25003765		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	21846984		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	21846984, 22212723		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	24699314, 32600345	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21846984		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	15883854, 15986374, 16164701, 16185327, 16391555, 18489434, 20101775, 20403149, 21287672, 21830272, 23380085, 23913970, 24971461, 26734582, 27467733, 29729713		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	18587394, 21102463, 26192919, 26974007		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	18587394, 21102463		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	20117335, 20176734, 21287672, 21830272, 21983784, 24971461, 27467733, 29423382, 29456405, 30384859, 32600345, 34445589	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	24971461	Stimulate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	27751376		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29740871		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	20709134		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	18821667		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17054449, 18310307, 20331840, 22315323, 22357962, 23480181, 25075402, 27288719, 28603863, 29895027, 31732921		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17054449, 18310307, 20331840, 22315323, 22357962, 23480181, 25075402, 27288719, 28603863, 29895027, 31732921		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	17237219, 17697317, 22315323, 22357962, 25075402, 25333705, 36150053, 9218523	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	15208781, 15273934, 15719322, 15934099, 15986374, 16320352, 16464986, 16519819, 16868974, 17237219, 17334650, 17697317, 18056643, 18292987, 18305142, 18310307, 19073967, 19141582, 19188433, 19248096, 19956096, 19956106, 19956109, 20089178, 20176734, 20445565, 20975833, 21044313, 21190368, 21270831, 21429197, 21829393, 21873553, 22105996, 22315323, 22332874, 22357962, 22426112, 23480181, 23613833, 23936838, 24260237, 24773525, 25333705, 25422107, 25729936, 26405068, 26405072, 26405073, 26631741, 26782543, 28262800, 28438156, 29924845, 31808541, 34301848, 34858326, 35008834, 35355982, 35812428, 36150053, 36961271, 37240014, 37315092, 37724526, 38453145	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32938833, 39238070	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15004560, 15504986, 15526003, 15620463, 15719322, 15734872, 15759012, 15875058, 15883854, 15986374, 16226440, 16257508, 16273109, 16320352, 16322396, 16391555, 16464986, 16470599, 16519819, 16614815, 16671953, 16697661, 16750991, 16868974, 16893384, 17000021, 17003357, 17054449, 17130532, 17237219, 17259401, 17334650, 17452059, 17611256, 17661906, 17697317, 17729039, 17868256, 17934143, 17961971, 18001305, 18056643, 18056891, 18075792, 18179648, 18194365, 18252906, 18292987, 18299186, 18305142, 18310307, 18776148, 19073967, 19090780, 19141582, 19177473, 19188433, 19248096, 19473815, 19815302, 19895409, 19951419, 19956096, 19956106, 19956109, 20089178, 20176734, 20438787, 20445565, 20510318, 20518841, 20849903, 21352425, 21429197, 21467606, 21873553, 21956362, 22068554, 22069277, 22105996, 22315323, 22357962, 22429252, 22572103, 22809281, 22932816, 23054006, 23076337, 23261816, 23291413, 23337153, 23359562, 23438410, 23480181, 23539116, 23613833, 23936838, 24103478, 24117662, 24188455, 24260237, 24269925, 24913133, 25042601, 25125338, 25243643, 25333705, 25448703, 25729936, 25896041, 26291515, 26405068, 26438525, 26485223, 26513234, 26631741, 26734582, 26782543, 26902538, 27207523, 27288719, 27615679, 27892782, 28262800, 28375784, 29409002, 29512901, 29611765, 29762907, 29895027, 29924845, 30139951, 30456822, 31732921, 31808541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	UNIPROT_DG	15004560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	16322396, 18056891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17554260, 17632545, 19430480, 21980299		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	17554260, 17632545, 19430480, 21829393, 25751624, 25936594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	21190368, 30224649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	21190368, 30224649		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18310307, 18764813, 20805278, 25896041		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30254083		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	21190368, 30224649		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	18056891, 21873553, 21956362, 23480181, 29895027		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	21190368, 30224649		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic ketoacidosis	Pubtator	21429197	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	30938100		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	36815569	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	31067674		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	19895409		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	19961590, 35355982	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	17624340, 17931634, 19237203, 20070289, 26216523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	LHGDN	17624340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	17624340, 17931634	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	28760196		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Achalasia	BEFREE	17961776, 21641950		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27613842	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	32328064	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	30122580		★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	16078327, 23946333, 25405820, 25817017		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Giant Cell Arteritis	Giant Cell Arteritis	LHGDN	16078327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Giant Cell Arteritis	Giant Cell Arteritis	ORPHANET_DG	23946333		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Giant cell arteritis	Giant Cell Arteritis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Giant Cell Arteritis	Giant cell arteritis	Pubtator	25817017	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glossitis	Glossitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	23025987	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatosis	Granulomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	16320352, 22237046, 22696186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	LHGDN	16320352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	16320352, 22237046	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	ORPHANET_DG	22508400, 22696186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	BEFREE	15531553, 15943829, 16279843, 16893384, 16918960, 17148556, 17608818, 17729039, 17941906, 18081880, 18305142, 18578611, 19343596, 19438904, 20615141, 20739780, 21054240, 21467606, 22204900, 24386393, 25061884, 26293122, 26943356, 28133421, 28500376, 28568286, 29409002, 29973096, 30938100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	16868974, 18056643, 18305142, 24386393, 25061884, 26943356, 28568286, 29973096, 30938100	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	LHGDN	17148556		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	CTD_human_DG	21190368		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	GWASDB_DG	22922229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	GWASCAT_DG	22922229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	30938100	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	15875058		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	15719322, 16320352, 16868974, 29973096, 30384852	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	16322396, 16391555, 19343596, 20438787, 28133421, 29973096, 30384852		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	GWASDB_DG	22922229		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	GWASCAT_DG	22922229		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	17493151		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	28619073	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	23025987		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	23025987, 23860658	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	28619073		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	18078626, 26458874		★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	27406031, 36741403	Associate	★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	25781893	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	GWASCAT_DG	30194254		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	27207523		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30384852	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	22968483, 28568286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	Pubtator	28568286	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoparathyroidism	Hypoparathyroidism	LHGDN	16893384		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	22493691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	GWASDB_DG	22493691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	22493691, 36815569, 39238070	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	GWASCAT_DG	27182965, 30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypoparathyroidism	Hypoparathyroidism	BEFREE	16893384		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	18821667, 27312665		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	31759816	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	17989522, 30507064		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	22396730, 27917628, 35152348	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASCAT_DG	23055271		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	21597364, 23098231		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	16539704		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	16185327, 16760194, 17600378, 20101775, 23380085, 23991106, 24971461, 27043286, 27467733, 28545409, 29965986, 31107248, 31194881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	20101775, 24971461, 27467733, 28545409, 29965986, 30384859, 35018451	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	CTD_human_DG	21983784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory dermatosis	Dermatitis	BEFREE	20709134		★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iridocyclitis	Iridocyclitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	28793778		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	29965986		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	15759012, 15934099, 16760194, 17000021, 17729039, 19116933, 19210888, 19674979, 20072139, 22327470, 23603761, 23777930, 25003765, 25057181, 25781893, 26291515, 26305060		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	LHGDN	15934099, 17000021		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile pauciarticular chronic arthritis	Pauciarticular chronic arthritis	ORPHANET_DG	23603761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ketosis	Ketosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	16052172		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	16320352	Associate	★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Autoimmune Diabetes	BEFREE	18056891, 25005490, 25896041, 30456822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	18310307, 20805278	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Latent Autoimmune Diabetes in Adults	Autoimmune Diabetes	GWASCAT_DG	30254083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyoma	Leiomyoma	Pubtator	30122580	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	31174481		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11290602	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	27936393		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Libman-Sacks Disease	Nonbacterial verrucal endocardiosis	CTD_human_DG	18204446, 21190368		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	28097068		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26429315		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	26429315		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	17472988, 27406031, 28922436	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	27406031	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	30664875	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Low Grade Lymphoma (neoplasm)	Low Grade Lymphoma	BEFREE	22507790		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22237046	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	18759295, 23359562, 24433447, 26092158		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15273934, 15641066, 15719322, 15934099, 15986374, 16052563, 16320352, 16464986, 16868974, 17158136, 18056643, 18204446, 18759295, 18981062, 19440200, 19714582, 19796918, 21044313, 21190368, 21279993, 21543514, 22952725, 23042117, 23950893, 24433447, 24699314, 24985973, 28619073, 31781109, 35152348, 9218819	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	31616406	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	18759295, 23359562, 24433447, 26092158		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15273934, 15620463, 15641066, 15883854, 15986374, 16052563, 16391555, 16868974, 17066073, 17092257, 17158136, 17729039, 17868256, 18056643, 18075792, 18194365, 18204446, 18759295, 18981062, 19210878, 19440200, 19714582, 19796918, 20483040, 20739780, 21078766, 21279993, 21384170, 21543514, 21818561, 21968398, 22204900, 22704547, 23359562, 23950893, 23966601, 24188455, 24269925, 24433447, 24985973, 25003765, 26013387, 26018863, 26092158, 27166176, 28500376, 28528372, 28619073, 28990435, 29512901, 30871426, 31032751, 31781109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	UNIPROT_DG	15273934		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	ORPHANET_DG	15273934, 19838195, 22654485, 23943494, 23950893, 23966601		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	15641066, 17066073, 17092257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	CTD_human_DG	18204446, 21190368		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	19838195, 26502338, 27193031, 27399966, 28714469, 30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus nephritis	Pubtator	28527290, 37061279	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	18759295, 23359562, 24433447, 26092158		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27613842	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22507790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	27467733		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndromes	Malabsorption syndrome	Pubtator	27467733	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16028413, 27896591, 28666009, 30660694		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27871003		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18248681		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22569400, 28427307, 30660694, 31335326		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28880032		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	25896041		★☆☆☆☆ Found in Text Mining only
Mediastinal lymphadenopathy	Mediastinal lymphadenopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11710941	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere Disease	Meniere Disease	BEFREE	19780033		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microscopic Polyangiitis	Microscopic polyangiitis	Pubtator	39862807	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	9808582	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15934099, 16391555, 17052659, 22204900		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	15934099	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	33740106	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	16437561, 18533277, 18567864, 19406179, 19693092, 20942939, 22197427, 24294607, 24361103, 25119822, 26318187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia Gravis	GWASDB_DG	23055271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia gravis	Pubtator	23055271, 25119822	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28874816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	28874816	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis	Myositis	BEFREE	18821667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myositis	Myositis	GWASCAT_DG	26362759, 30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	18655234, 19123480, 27634372, 27896591, 28395135, 28427307, 29101636, 29116089, 29165044, 29874597, 30122580, 30294852, 30588706, 30905205, 31335326		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	16320352	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24412329, 30294852		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31837707	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24412329		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	21908482		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	11992261, 26084119	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27077116, 31067674		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	9218523	Associate	★☆☆☆☆ Found in Text Mining only
Oligoarticular juvenile idiopathic arthritis	Oligoarticular Arthritis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27871003		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22429328, 23010175, 24412329		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	37239478	Associate	★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	16320352, 22696186		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	21585555, 30884100		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	33059697	Associate	★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Poliosis	Poliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	28760196		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	12920026	Associate	★☆☆☆☆ Found in Text Mining only
Polyglandular Type III Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	26782543		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	GWASCAT_DG	26362759		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymyositis	Polymyositis	Pubtator	26362759	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	16671954, 27406031, 28922436		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18248681		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11067847, 22274591, 25592066	Associate	★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	15934099, 16339849, 18341666, 20039785, 22204900, 22544573, 25923216, 28603863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	15934099, 16339849, 18341666, 30092825, 32888428	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	LHGDN	16098055, 18341666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	16339849		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	39346628	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	27866840		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	21752868		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29980767		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	28221200		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	19546859	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	19123480		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	21384170, 25273327		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15208781, 15273934, 15641066, 15674368, 15790351, 15875058, 15883854, 15934099, 15973463, 15986374, 16175503, 16273109, 16277672, 16380915, 16391555, 16462519, 16490755, 16507117, 16635271, 16690758, 16760194, 16893384, 17133579, 17135225, 17148556, 17158136, 17159887, 17170052, 17179172, 17237219, 17341507, 17436241, 17472988, 17553139, 17579671, 17660221, 17661906, 17666450, 17666451, 17696275, 17932559, 18056643, 18075792, 18156150, 18240242, 18305142, 18375541, 18462498, 18648537, 18812394, 19180477, 19324521, 19343596, 19357851, 19365265, 19445664, 19714582, 19714585, 19898480, 20061955, 20090771, 20125172, 20353580, 20498205, 20510318, 20560812, 20604892, 20629510, 20822712, 20888443, 20975833, 21153621, 21279993, 21398331, 21492465, 21496252, 21506938, 21543514, 21607711, 21706348, 21752868, 21778735, 21784728, 21949702, 21965649, 22129793, 22204900, 22209972, 22355377, 22427951, 22632125, 22661643, 22661644, 22704547, 22743847, 22937072, 23288628, 23350658, 23370857, 23450725, 23582631, 23637320, 24269925, 24665115, 24812286, 24880676, 25003765, 25014791, 25040563, 25138370, 25963842, 26019128, 26547712, 26763276, 26879349, 26951256, 27125674, 27166176, 27324632, 27807193, 28291534, 28424905, 28430763, 28500376, 28653215, 28874816, 29388193, 29423382, 29512901, 29729713, 30139951, 30251905, 30306282, 30327147, 30402903, 30637604, 30899276, 30920455, 30957405, 31030958, 31669381		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	15208781, 15641066, 15641088, 15875058, 15934099, 16107870, 16277672, 16380915, 16507117, 16635271, 17133579, 17135225, 17170052, 17237219, 17436241, 17579671, 17661906, 17696275, 18156150, 18462498		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	UNIPROT_DG	15208781		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17159887, 17804836, 19503088, 20453842, 21156761, 22446963, 23143596, 24390342, 24449572		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	17804836, 19503088, 20453842, 21156761, 23143596, 24390342, 24449572, 24532676, 27193031, 30423114, 30573655, 30891314		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	19898480, 20453842, 21190368, 23143596, 30224649		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	Rheumatoid Factor-Negative Polyarticular Arthritis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhinitis Allergic	Rhinitis	Pubtator	27917628	Associate	★☆☆☆☆ Found in Text Mining only
Scleritis	Scleritis	BEFREE	30921471		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	17133608, 19796918	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	BEFREE	28760196		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	15719322	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	21752868, 27324632		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	35018451	Associate	★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	25781893	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	25755798	Associate	★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	25814225		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30126387	Associate	★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	23570882, 24055692, 29979892		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	22129793		★☆☆☆☆ Found in Text Mining only
Systemic lupus erythematosus	Systemic lupus erythematosus	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	BEFREE	16464986, 16870103, 17133608, 18576360, 19796918, 21131644, 21688149, 22704547, 29729713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	LHGDN	17133608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASCAT_DG	30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Takayasu Arteritis	Takayasu Arteritis	BEFREE	18375974, 30470857		★☆☆☆☆ Found in Text Mining only
Taussig-Bing Anomaly	Taussig-Bing Anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Temporal Arteritis	Temporal Arteritis	ORPHANET_DG	23946333		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	LHGDN	16437561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Thymoma	BEFREE	19693092, 25119822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	18578611		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	LHGDN	16052563		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	22374238, 23463390, 26405068, 28627089		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	28437437	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	16273109		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	30887870	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	15934099, 16052563, 16464986, 16868974, 17133579, 17334650, 19141582, 19343596, 19951419, 21044313, 28922436, 29973096, 30384852, 35355982, 36815569, 39741066	Associate	★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	BEFREE	29940616		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29101636, 29556946, 31598115		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	20696024, 28627089, 30508004		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	20696024, 30887870	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	20101775, 21287672, 23456301, 23974994, 24971461, 28545409, 29455070, 29729713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urticaria	Urticaria	BEFREE	22722472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Fibroids	Uterine Fibroids	BEFREE	30122580		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	19503742, 24816862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	ORPHANET_DG	24816862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	BEFREE	28801243		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	16078327, 18078626, 22696186, 26458874		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	19951419, 28029757, 39862807	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	16775347		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	16015369, 16464986, 16893384, 18426414, 20560680, 23264102, 30008646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	16464986, 18200060, 20410501, 37239478	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	LHGDN	18200060, 18426414		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASCAT_DG	20410501, 27723757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASDB_DG	20410501, 21326295, 22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	16015369, 16464986, 16893384, 18426414, 20560680, 23264102, 30008646		★☆☆☆☆ Found in Text Mining only
Vogt-Koyanagi-Harada disease	Vogt-Koyanagi-Harada Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations