CD40 (CD40 molecule)

Gene

• Entrez ID: 958
• Gene name: CD40 molecule
• Gene symbol: CD40
• Synonyms (NCBI Gene): Bp50, CDW40, TNFRSF5, p50
• Chromosome: 20
• Chromosome location: 20q13.12
• Summary: This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immuno

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931586	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs774195387	T>C	Pathogenic	Splice donor variant
rs1568905451	TAA>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs1568906348	A>T	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003393	hsa-miR-224-5p	Microarray, qRT-PCR	19475450
MIRT004620	hsa-miR-486-5p	Microarray, qRT-PCR	19475450
MIRT006789	hsa-miR-503-5p	Luciferase reporter assay	22429276
MIRT736408	hsa-miR-491-3p	qRT-PCR, Flow cytometry	33679688
MIRT875349	hsa-miR-103a	CLIP-seq
MIRT875350	hsa-miR-107	CLIP-seq
MIRT875351	hsa-miR-1193	CLIP-seq
MIRT875352	hsa-miR-1243	CLIP-seq
MIRT875353	hsa-miR-15a	CLIP-seq
MIRT875354	hsa-miR-15b	CLIP-seq
MIRT875355	hsa-miR-16	CLIP-seq
MIRT875356	hsa-miR-195	CLIP-seq
MIRT875357	hsa-miR-214	CLIP-seq
MIRT875358	hsa-miR-29a	CLIP-seq
MIRT875359	hsa-miR-29b	CLIP-seq
MIRT875360	hsa-miR-29c	CLIP-seq
MIRT875361	hsa-miR-3065-3p	CLIP-seq
MIRT875362	hsa-miR-3155	CLIP-seq
MIRT875363	hsa-miR-3155b	CLIP-seq
MIRT875364	hsa-miR-3616-5p	CLIP-seq
MIRT875365	hsa-miR-3619-5p	CLIP-seq
MIRT875366	hsa-miR-3647-5p	CLIP-seq
MIRT875367	hsa-miR-424	CLIP-seq
MIRT875368	hsa-miR-4291	CLIP-seq
MIRT875369	hsa-miR-4437	CLIP-seq
MIRT875370	hsa-miR-4674	CLIP-seq
MIRT875371	hsa-miR-4685-5p	CLIP-seq
MIRT875372	hsa-miR-4733-3p	CLIP-seq
MIRT875373	hsa-miR-4795-5p	CLIP-seq
MIRT875374	hsa-miR-484	CLIP-seq
MIRT875375	hsa-miR-497	CLIP-seq
MIRT875376	hsa-miR-532-5p	CLIP-seq
MIRT875377	hsa-miR-573	CLIP-seq
MIRT875378	hsa-miR-660	CLIP-seq
MIRT875379	hsa-miR-761	CLIP-seq
MIRT875380	hsa-miR-922	CLIP-seq
MIRT2196502	hsa-miR-4514	CLIP-seq
MIRT2196503	hsa-miR-4692	CLIP-seq
MIRT875358	hsa-miR-29a	CLIP-seq
MIRT875359	hsa-miR-29b	CLIP-seq
MIRT875360	hsa-miR-29c	CLIP-seq
MIRT875362	hsa-miR-3155	CLIP-seq
MIRT875363	hsa-miR-3155b	CLIP-seq
MIRT2499513	hsa-miR-3176	CLIP-seq
MIRT2499514	hsa-miR-326	CLIP-seq
MIRT2499515	hsa-miR-330-5p	CLIP-seq
MIRT2499516	hsa-miR-3922-3p	CLIP-seq
MIRT2499517	hsa-miR-3926	CLIP-seq
MIRT875372	hsa-miR-4733-3p	CLIP-seq
MIRT875374	hsa-miR-484	CLIP-seq
MIRT2499518	hsa-miR-548s	CLIP-seq
MIRT875358	hsa-miR-29a	CLIP-seq
MIRT875359	hsa-miR-29b	CLIP-seq
MIRT875360	hsa-miR-29c	CLIP-seq
MIRT875362	hsa-miR-3155	CLIP-seq
MIRT875363	hsa-miR-3155b	CLIP-seq
MIRT2499513	hsa-miR-3176	CLIP-seq
MIRT2499514	hsa-miR-326	CLIP-seq
MIRT2499515	hsa-miR-330-5p	CLIP-seq
MIRT2499516	hsa-miR-3922-3p	CLIP-seq
MIRT2499517	hsa-miR-3926	CLIP-seq
MIRT875372	hsa-miR-4733-3p	CLIP-seq
MIRT875374	hsa-miR-484	CLIP-seq
MIRT2499518	hsa-miR-548s	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
IRF1	Activation	18694960
NFKB1	Activation	19164127;9733827
NFKB1	Unknown	11027342;11313274;17031478
NFKBIA	Repression	9733827
NR3C2	Activation	16179010
RELA	Activation	19164127;9733827
RELA	Unknown	11313274;17031478
RELB	Unknown	11027342
SPI1	Activation	10823830
SPIB	Activation	10823830
STAT1	Activation	10823830;15182726
STAT6	Unknown	11086058
TRAF6	Unknown	16143987
TRERF1	Repression	18652845
XRCC5	Unknown	17031478
XRCC6	Unknown	17031478

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0002637	Process	Regulation of immunoglobulin production	IEA
GO:0002768	Process	Immune response-regulating cell surface receptor signaling pathway	IBA
GO:0002768	Process	Immune response-regulating cell surface receptor signaling pathway	IEA
GO:0003823	Function	Antigen binding	IEA
GO:0005515	Function	Protein binding	IPI	7527023, 9468137, 10518213, 12140561, 20676093, 23334419, 25416956, 25502805, 25910212, 26210919, 31331973, 31515488, 32296183, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	10748139
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IMP	21410936
GO:0006952	Process	Defense response	IEA
GO:0006954	Process	Inflammatory response	TAS	2475341
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IMP	21410936
GO:0009617	Process	Response to bacterium	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	HDA	23981064
GO:0009986	Component	Cell surface	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0019724	Process	B cell mediated immunity	IEA
GO:0019899	Function	Enzyme binding	IPI	12223522
GO:0019904	Function	Protein domain specific binding	IEA
GO:0023035	Process	CD40 signaling pathway	IDA	8910514, 15708970
GO:0023035	Process	CD40 signaling pathway	IDA	8910514, 15708970, 31331973
GO:0023035	Process	CD40 signaling pathway	IEA
GO:0023035	Process	CD40 signaling pathway	IMP	21410936
GO:0030168	Process	Platelet activation	NAS	9468137
GO:0030890	Process	Positive regulation of B cell proliferation	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	11279055
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032735	Process	Positive regulation of interleukin-12 production	IEA
GO:0033590	Process	Response to cobalamin	IEA
GO:0034341	Process	Response to type II interferon	IEA
GO:0035631	Component	CD40 receptor complex	IBA
GO:0035631	Component	CD40 receptor complex	IEA
GO:0035631	Component	CD40 receptor complex	ISS
GO:0036018	Process	Cellular response to erythropoietin	IEA
GO:0038023	Function	Signaling receptor activity	IDA	38494863
GO:0038023	Function	Signaling receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	TAS	10092834
GO:0042100	Process	B cell proliferation	IEA
GO:0042100	Process	B cell proliferation	NAS	8605945
GO:0042113	Process	B cell activation	IBA
GO:0042113	Process	B cell activation	IEA
GO:0042113	Process	B cell activation	IEA
GO:0042832	Process	Defense response to protozoan	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEP	12761501
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	21410936
GO:0043196	Component	Varicosity	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	21410936
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IMP
GO:0045766	Process	Positive regulation of angiogenesis	IMP
GO:0045935	Process	Positive regulation of nucleobase-containing compound metabolic process	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	12574355
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	21410936
GO:0048304	Process	Positive regulation of isotype switching to IgG isotypes	IEA
GO:0050776	Process	Regulation of immune response	IEA
GO:0050776	Process	Regulation of immune response	IEA
GO:0051094	Process	Positive regulation of developmental process	IEA
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0065003	Process	Protein-containing complex assembly	TAS	10748139
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0071347	Process	Cellular response to interleukin-1	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0090037	Process	Positive regulation of protein kinase C signaling	IMP	21410936
GO:1901652	Process	Response to peptide	IEA
GO:1902216	Process	Positive regulation of interleukin-4-mediated signaling pathway	IGI	12574355
GO:2000353	Process	Positive regulation of endothelial cell apoptotic process	IDA	12885753

Other IDs

• MIM: 109535
• HGNC: 11919
• e!Ensembl: ENSG00000101017

Protein

• UniProt ID: P25942
• Protein name: Tumor necrosis factor receptor superfamily member 5 (B-cell surface antigen CD40) (Bp50) (CD40L receptor) (CDw40) (CD antigen CD40)
• Protein function: Receptor for TNFSF5/CD40LG (PubMed:31331973). Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion (By similarity). {ECO:0000250|UniProtKB:P27512, ECO:000026
• PDB: 1CZZ, 1D00, 1FLL, 1LB6, 3QD6, 5DMI, 5DMJ, 5IHL, 6FAX, 6PE8, 6PE9, 7P3I, 8YX1, 8YX9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00020	TNFR_c6	62 → 103	TNFR/NGFR cysteine-rich region	Domain

• Tissue specificity: TISSUE SPECIFICITY: B-cells and in primary carcinomas.
• Sequence:

  MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCTEFTETECL
  PCGESEFLDTWNRETHCHQHKYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCV
  LHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEKCHPWTSCETKDLVVQQAGTN
  KTDVVCGPQDRLRALVVIPIIFGILFAILLVLVFIKKVAKKPTNKAPHPKQEPQEINFPD
  DLPGSNTAAPVQETLHGCQPVTQEDGKESRISVQERQ

• Sequence length: 277

Pathways

KEGG:

Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
Cell adhesion molecules
Toll-like receptor signaling pathway
Intestinal immune network for IgA production
Malaria
Toxoplasmosis
Human T-cell leukemia virus 1 infection
Epstein-Barr virus infection
Transcriptional misregulation in cancer
Asthma
Autoimmune thyroid disease
Systemic lupus erythematosus
Allograft rejection
Primary immunodeficiency
Viral myocarditis
Lipid and atherosclerosis

Reactome:

Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
TNFR2 non-canonical NF-kB pathway
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway

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
Hyper-IgM syndrome type 3	Pathogenic	rs2145595063, rs28931586, rs1568906348, rs1568905451	RCV000019324 RCV000019325 RCV000019326 RCV000022450	★★★★☆ 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
ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CD40-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ 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
GRAVES DISEASE	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKIN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IGM IMMUNODEFICIENCY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM syndrome type 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperimmunoglobulin M syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERIMMUNOGLOBULIN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEMPHIGUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	26279205, 7515919		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	16627810, 19679244, 20127135, 20137882, 20552594, 21091218, 30924686, 31183392		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	1702326, 17101562, 17285277, 18552209		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	12423681		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19475450, 29523597		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	21750116		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	29436396		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	18437082		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17285277		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	20155735, 21411738, 22335531, 28281555		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	26988706		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	10843719		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	29454857		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	31616436		★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	28769101, 29055003		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	LHGDN	12624779		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	20110602	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22801742, 9394977	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35366391	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	18055209, 18941241, 24345324		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27512062		★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	34239024	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29771402		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anodontia	Anodontia	Pubtator	11313274	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27454293		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	11535526	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	14743151	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29519940		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	12868372		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10546000, 14517846, 18285570, 18977174, 19061720, 19187784, 19282242, 19679244, 20456428, 21223957, 21640399, 23166616, 23896727, 24664276, 24828072, 26821950, 27835742, 28935569, 29037856, 29406859, 29599140, 30612848, 31373353, 9050882		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	Pubtator	11069068	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	10366125	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	BEFREE	17202327, 23256180, 23257401, 25354400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Juvenile	Juvenile arthritis	Pubtator	32787920	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	32733468, 35095831	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10366125, 10700427, 11037875, 15248214, 16177927, 16736517, 17328044, 17845713, 19503088, 19644859, 20634952, 22505696, 23166616, 27813548, 30402903, 31036624, 32723749, 33517445, 33968033, 35777820, 37108746, 37563310, 39321281	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	9691097	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	12207328, 17255560, 18769189, 19159017, 29254239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	17255560, 19159017		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	18714535, 19159017	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	11381677, 12005399		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	22686660, 29739685		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10546000, 14517846, 18285570, 18977174, 19061720, 19187784, 19282242, 19679244, 20456428, 21223957, 21640399, 23166616, 23896727, 24664276, 24828072, 26821950, 27835742, 28935569, 29037856, 29406859, 29599140, 30612848, 31373353, 9050882		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	10623647, 11978801, 12386144, 12676820, 14522500, 15315968, 15467191, 23166616, 23561892, 9050882, 9916937	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	14687897		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	LHGDN	17904146		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	22992131	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31649298		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	37108638	Stimulate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31260720		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10085405, 10546000, 14695541, 16127217, 16448457, 17026470, 17202327, 17344890, 17709483, 17845713, 21091218, 21645569, 21804190, 22017433, 22087016, 22427471, 22863718, 22888137, 23064231, 23092922, 23799000, 24590766, 24912008, 25640675, 26068105, 26356194, 27578014, 27813548, 27929668, 28455435, 28768709, 29127458, 29132233, 29391506, 29576376, 29773027, 30099540, 30113724, 30552917, 30811635, 31019027, 31109957, 31365872, 31426619, 31647605, 8809473		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	12153507, 12855571, 15315968, 17845713, 20634952, 21804190, 23092922, 23613777, 25640675, 26068105, 27813548, 27929668, 30878028, 31365872, 31382872, 31616406, 34149627	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	11905840	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	10216096, 10666198, 11708812, 12220533, 14511234, 17567982, 24938766, 28182009, 31378910, 31635187, 8562941, 8821629, 9070319		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	12576441		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	10068672, 8566887		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	15196263	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	22087016, 25373542, 25405820, 29254239		★☆☆☆☆ Found in Text Mining only
Berylliosis	Berylliosis	Pubtator	25689051	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	15625200, 16823804, 17123476, 17224092, 18189279, 18545269, 29981961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25316820		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	16736517, 35463641	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	17805323	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	24339136, 31536946		★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	12089736	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	LHGDN	15795333		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	29843579		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	LHGDN	12764232		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	37586773	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	30675308		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10216096, 15360007, 15481028, 19228733, 25992978, 29423058		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17043144		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18086299, 21912605, 23934044, 25992978, 26942414	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	31552680	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	24339136		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	33552042	Associate	★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	19037236		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	10092782, 10597194, 12070030, 12220533, 12230500, 17709483, 25485679, 7515102, 8009829, 9070319		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	10640744, 14676197, 17709483, 7595225, 8695856, 9763568	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	LHGDN	12070030		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32089541	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	37270937	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10216096, 11426939, 11929824, 12576427, 15087402, 18603231, 18694960, 19461675, 20211016, 21282461, 26986513, 28267402, 29773027, 8809473, 8950992, 9305866		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	12089736	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15965645, 38548267	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23150092	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29568203	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	37270937	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16213477, 25316820, 9714053		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25352298, 26823861, 27063419		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	11950960	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	20976171	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23983255, 33180184	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	40003965	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24801648, 34445576, 36091050	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	12089736, 26823861, 37691121	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26823861, 37970926	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17145890, 27044825		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	9495297		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	9495297		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	17543638, 22505696	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22505696		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27992360	Stimulate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	16736517	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	11839576	Associate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	BEFREE	7508119, 7515919		★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	18025535		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	18675321, 23669336		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	22505696, 23954880		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	28796044		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17098279, 28181356		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17098279, 28181356		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	17285277		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	21103345		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	31382872	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	10403929, 30499177		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	10403929, 28801616, 30499177, 31642196		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10068672, 11042507, 11891278, 16014560, 16391014, 1702326, 17038534, 18796631, 20882050, 21745159, 22128299, 22505652, 23990022, 24014238, 25922067, 26062845, 26305332, 27491692, 28092772, 29450641, 30271400, 7539512, 8566887, 8977261, 8990100, 9485189		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	11891278, 12604404		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	15802338, 18635891, 19622350, 22798194, 30273784, 31556347		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	32345091	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	16262206, 31780341		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	25100292, 29416538, 31358760		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19664152, 26706980	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	24347371	Inhibit	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18603231, 19509257, 27262846, 29155517		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	12970138	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18603231		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10566730, 29155517, 29588321		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29155517, 33180184, 34184409, 34830445	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	10760795, 15358621, 19738033, 26279205, 7515919		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	15358621, 19738033, 30464201, 37481011, 9042433, 9246212, 9486401	Associate	★☆☆☆☆ Found in Text Mining only
Compensatory Hyperinsulinemia	Compensatory Hyperinsulinemia	CTD_human_DG	29035695		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29451182		★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	18455351		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17805323		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30612848		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24801648, 9041191		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	27879468		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	9285647	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19679244, 23671649, 27200368, 31373353		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	17925605		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	20552594, 22645426, 27200368	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	23671649, 24818816, 27200368, 31373353		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	27461004, 28796044, 37566005	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	23671649, 27200368, 27461004, 27814628, 28796044, 28930526, 31373353		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10566730, 17479111, 19664152, 20634952, 23950992, 26706980, 29254239, 30581331, 9928378		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	19664152, 20634952, 23950992	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26706980	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	12000003	Associate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	19095643, 31463646		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11037875, 14558084, 15290728, 28482921, 30316071		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	40624693	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	38593939	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	12230500	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	39196303	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	11028864	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	12230500, 18769189		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	8898941		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	10843719		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28965505, 29669934, 30581781		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	31880859	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28965505, 29669934, 30581781		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	38030458	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	34625948, 37576973	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	38030458	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10843746, 18045485, 19834879, 22105491, 22888137, 28192476, 28542921, 8617984		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	26710229, 27474370		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	26710229	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	20155735, 21411738, 22335531, 24919462, 25485679, 28281555, 30666658		★☆☆☆☆ Found in Text Mining only
Diverticulitis	Diverticulitis	BEFREE	10566730		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	25222269	Associate	★☆☆☆☆ Found in Text Mining only
Dysgammaglobulinemia	Dysfibrinogenemia	Pubtator	19903677	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia hypohidrotic with immune deficiency	Ectodermal dysplasia	Pubtator	12045264	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	BEFREE	18523147		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	12230500, 18769189		★☆☆☆☆ Found in Text Mining only
Endogenous Hyperinsulinism	Endogenous Hyperinsulinism	CTD_human_DG	29035695		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22711307, 26293665		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35937391, 36805217	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	12209092	Associate	★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	35202881	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27044825		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	9714053		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	25343742		★☆☆☆☆ Found in Text Mining only
Erectile Dysfunction	Erectile dysfunction	Pubtator	25343742	Associate	★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	BEFREE	17952198		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	38181044	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27630283	Associate	★☆☆☆☆ Found in Text Mining only
Exogenous Hyperinsulinism	Exogenous Hyperinsulinism	CTD_human_DG	29035695		★☆☆☆☆ Found in Text Mining only
Familial erythrocytosis	Erythrocytosis	BEFREE	17952198		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	25356681		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29985430		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	29985430	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31604965		★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	12579020		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	17145890		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29743985		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29155846		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	29467128		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	32923153	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	18446002	Associate	★☆☆☆☆ Found in Text Mining only
Genital ulcers	Genital ulcers	BEFREE	25373542		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	20682661, 29254239		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31697709		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	30138396, 31306362		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26663363, 30030559, 30940658, 31125770		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30353265	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22134728, 22699883, 26663363, 30030559, 30940658, 31125770		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22810421, 30030559		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	30811635		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	25273097	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	15699110		★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	18455351		★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	10337027	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10843746, 12593727, 14611700, 15272925, 15307939, 15731360, 16127217, 16279844, 16756465, 17199432, 17344890, 17786592, 17949264, 18446002, 18755875, 21054240, 21147892, 22706687, 22863718, 22888137, 23092922, 25936345, 27929668, 28742400, 29254239, 29325864, 30223781, 30956635, 9245555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	12028565, 16127217, 17032245, 20634952, 27929668, 30223781, 34149627, 34867801, 9717983	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	LHGDN	12593727, 16127217, 16279844, 18755875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	19117935	Stimulate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	23092922, 25411513, 25653477, 9792671	Associate	★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	1702326		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	17479111		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	22706687, 22863718, 28742400		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	10223618		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	18086125, 29784904	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30612848		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	24952935, 9305866	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30816327, 9305866		★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	33968033	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	19295544		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	10468853, 1702326, 36383401	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	21912605	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	27742706		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	30999581		★☆☆☆☆ Found in Text Mining only
Heymann Nephritis	Heymann Nephritis	BEFREE	30811635		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	10403929, 26988706, 7522624, 8656679		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin disease	Pubtator	11675352, 12689928, 7507299, 7522624, 9746758, 9769119	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington disease	Pubtator	10090942	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10403929		★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	BEFREE	10559240, 10640744, 10706672, 10837404, 10931152, 11414747, 12840068, 12893749, 15319456, 15358621, 15661021, 15961576, 16896156, 20702779, 22443339, 23538518, 24122029, 29132233, 29245273, 29884852, 30529036, 7507684, 7518839, 7523449, 7532185, 7539026, 7690328, 7915248, 7919918, 8589998, 9058789, 9746782, 9857288		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyper-IgM Immunodeficiency Syndrome, Type 2	Hyper-IgM Immunodeficiency Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 3	Hyper-IgM Immunodeficiency Syndrome	ORPHANET_DG	11675497		★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 3	Hyper-IgM Immunodeficiency Syndrome	UNIPROT_DG	11675497, 26545377		★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 3	Hyper-IgM Immunodeficiency Syndrome	GENOMICS_ENGLAND_DG	17502893		★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 3	Hyper-IgM Immunodeficiency Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 3	Hyper-IgM Immunodeficiency Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 5	Hyper-IgM Immunodeficiency Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyper-IgM syndrome type 3	Hyper-IgM Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	37325657	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	CTD_human_DG	29035695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	30151392		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	Pubtator	38030458	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	27992360	Associate	★☆☆☆☆ Found in Text Mining only
Hyperimmunoglobulin M syndrome	Hyperimmunoglobulin M Syndrome	BEFREE	10559240, 10706672, 11675497, 11817328, 15661021, 20702779, 24122029, 29884852, 30529036, 7523449, 8589998, 9058789		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperimmunoglobulin M syndrome	Hyperimmunoglobulin M Syndrome	LHGDN	11817328		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperimmunoglobulin M syndrome	Hyperimmunoglobulin M Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperinsulinism	Hyperinsulinism	CTD_human_DG	29035695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	BEFREE	17043800		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	12535822	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20456428, 30273784		★☆☆☆☆ Found in Text Mining only
hypertensive nephropathy	Hypertensive Nephropathy	BEFREE	27692815		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	18446002, 21147892		★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	8566887		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	20587725	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22295117	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18635891		★☆☆☆☆ Found in Text Mining only
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	19738033, 9649225	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	10102646, 15358621, 21976957	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	18977174, 21976957		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	20628793, 24911453, 25232056, 29254239		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	15961576, 31253857		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	16262206, 29202656, 31780341		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10566730, 19664152, 21068720, 26706980, 30976089		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	12970136, 20634952, 21903765, 26706980, 33570153, 37563310	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	28766916		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	8898941		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	29115560	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	22505696	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	20504251, 23954880, 24657679, 28590502		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	11114713, 16569346		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	16123212		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27692815, 29669934		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	27630283	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	30499177	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30978213		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10403929, 30499177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	LHGDN	16494885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Kidney neoplasm	Pubtator	34445576	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	20456428		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	10903757		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	10903757	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10812244, 15251129, 1702326, 7505024		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15161673, 15536147, 1702326, 17378240, 17891925, 21552520, 29805109, 7540066, 7573367, 8652829	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	1702326, 7524766	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10706072, 11823047, 14662338, 18492117, 25795133, 9485189	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	27742706		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12423681, 15627212, 16254192, 18208411, 9485189		★☆☆☆☆ Found in Text Mining only
Leukostasis	Leukostasis	BEFREE	27474370		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10498643, 19336218, 19632790, 29568203, 8993019		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	19644859, 26388238	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	36825008	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	12686591	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	34551597	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10823420, 19448410, 26823861, 27063419, 40349025	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18548529		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31552680	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	25352488, 27290913		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	10510335, 19180486, 22952582, 26474561, 27699274, 31616406, 31642196, 32576231, 33407802, 33968033, 34952359, 36165173, 37400575	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	11315925, 39684227	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	16221206, 20478074, 36180106, 39711368	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	25352488, 27290913		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10510335, 12673892, 15621569, 15657613, 21415255, 21914625, 23257401, 25352488, 25908480, 26289938, 26474561, 26631756, 27290913, 27722794, 28421990, 29254239, 29330524, 30374748, 31109957, 31570051, 31642196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	16221206		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	28714469		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus Nephritis	LHGDN	14617752		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	18285351, 23799000, 29127458, 30113724		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	18285351	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	25352488, 27290913		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19865524, 21912605, 24885116, 27630283	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	25665853		★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	7524765	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	10812244, 15958635		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	10444164, 11825564, 12153507, 1702326, 17567982, 18287517, 20211016, 20473910, 20979617, 24919462, 31365872, 37809067, 9163608, 9858217	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10620629, 12070030, 1702326, 17567982, 18287517, 18337841, 20485376, 24938766, 26616222, 28610909, 31382969, 8816387, 8821629, 9885224		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	10444164, 10812244, 18287517, 18606651, 20473910, 7545296, 9414291, 9858217	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	12028024	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	10812244, 18287517, 20473910, 28610909		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	LHGDN	18287517, 18606651		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	18287517, 20473910, 21394099, 9305866		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	18287517, 20473910, 9305866		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	16219794		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	16177927	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	28935569		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	10223618		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	25797245		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10216096, 15481028, 17369819, 19228733, 25992978, 29423058, 31069131		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17043144		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22711307		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25352298, 26823861, 27063419		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	16998793		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17145890, 23924922		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25611381, 27906162, 30245691		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12727841, 23056548, 28608115		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18373164, 19604505, 22722990, 25665853, 26462153		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	10223618, 15753667		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25316820		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12527907, 12576427, 15087402, 15251129, 16085550, 16254192, 16461788, 18337841, 18548529, 19461675, 20211016, 20530686, 20842056, 21912605, 22228547, 22692727, 22804573, 24416732, 25404639, 25651948, 26462153, 26823861, 27454293, 27906162, 27927088, 28181923, 28351978, 28549179, 28670959, 28743486, 28801306, 29467128, 29576376, 29588321, 29844122, 30014762, 30642833, 30848201, 31355777, 31403344, 31412220, 31788062, 31807879, 31821442, 8562382, 9305866, 9485189		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17098279, 28181356		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18603231, 19509257, 27262846, 29155517		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17043144		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10713699		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17043144		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17043144		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	25797245, 27742706		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16213477, 19574933, 20842056, 28427434, 29129918, 29436395		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25252722, 28427434, 8952530	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	8952530	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	17014995, 29202656		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	28619093, 29436396		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	18349065	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	18349065, 24664276, 31604965		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	20842056, 22689055, 30288340		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	30511624		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	28550252, 30447377		★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	15674420, 7535594		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	7524765		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	30681383		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	30681383		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	22446961, 24023612, 25405820, 25470559, 29152908, 29254239, 30681383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	CTD_human_DG	22446961, 22446962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	22645426	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	16917511, 30999581		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10384156, 10648420, 11830495, 15087402, 15674420, 16453006, 22445357, 7524765, 7535594, 8520509		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10848782, 11495701, 11830495, 11882358, 12139739, 12358903, 17692804, 17692805, 20574050, 21248470, 25341809, 32840410, 7522634, 7524765, 9305866	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	11830495, 12433678		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	12070032	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	12433678	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10773848, 11839576, 17026470, 18329726, 20190274, 20368992, 20634952, 22653658, 23613777, 24912008, 25600834, 26068105, 26356194, 28192476, 28494768, 29146546, 29312317, 29361022, 30471110, 30837932, 31039804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	11839576, 12153507, 15544628, 20634952, 23613777, 26068105, 29361022, 31039804, 32111053, 36282535, 36451826, 37563310	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	19525955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	24076602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	40462656	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	39613182	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	19525955		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	27745838, 32343055, 36011296	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	27745838		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	17344890, 25518708, 29254239		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	17805323		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	17805323		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	17805323	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	14520439, 18796631		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	29588321		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	18037736		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19168865, 30924686		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31777165		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	35549587	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	33968033	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	29904400, 8601642		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	8601642	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	14678988, 17721998		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	12905492	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10068672, 10365667, 10427977, 10498643, 10980464, 11042507, 11129327, 11495701, 11929824, 14557622, 14662838, 15251129, 15498717, 15879094, 16709811, 17709483, 18093816, 18337841, 18373164, 18398504, 18548529, 18603231, 18713981, 19018001, 19532135, 19580345, 20009901, 21943054, 22017433, 22335531, 22386994, 22475191, 22722990, 22761754, 23000501, 23437404, 24114584, 2475341, 24773154, 24801648, 25316820, 25382101, 25665853, 25992978, 26462153, 26669617, 27262846, 27491692, 28536305, 28778961, 28823542, 29436396, 29508276, 29539427, 29565449, 29588321, 29715163, 30014762, 30030559, 30097487, 30245691, 30250646, 30265161, 30459812, 30485508, 30496041, 30560130, 30617223, 30642833, 30664811, 30848201, 30862497, 30925323, 31069131, 31137630, 31293882, 31329159, 31382969, 31408824, 31412220, 31739997, 31810498, 9041191, 9485189, 9610915		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	23256180, 30978213		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	18285351	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	12771917	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	8428579		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21410936		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	27578014		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	17721998		★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	18455351		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18548529, 20811715, 23404288, 28101568, 30078020, 31137630, 7675461		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	16448457		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	15625200, 17123476, 17514428, 18189279, 20102668, 21655260, 22588665, 24339136, 31111773, 31649298		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24664276, 30096208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	29035695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	29035695, 29784904	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	30388921	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	35219585	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular Hypertension	Ocular Hypertension	BEFREE	31306362		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	19151744		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33953899	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	28320398	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28320398		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	18097708, 20808842		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	26178921		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	18097708		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	18097708		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31293882		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	17145890		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	29296226		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12576427, 18705404		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11950960, 14715418, 17565609, 22406982, 32977853, 36894898	Associate	★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	31083581		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25611381, 27906162, 30245691		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27454293		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	29332158		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34933280	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36894898	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	33180184	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	40003965	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	17805323		★☆☆☆☆ Found in Text Mining only
Paracoccidioidomycosis	Paracoccidioidomycosis	Pubtator	31572394	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	15817705		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	29844122		★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	19421221		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	24476546		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	16123212		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	2475341	Associate	★☆☆☆☆ Found in Text Mining only
Perry Syndrome	Perry Syndrome	BEFREE	28789478		★☆☆☆☆ Found in Text Mining only
Persistent Polyclonal B-Cell Lymphocytosis	Persistent Polyclonal B-Cell Lymphocytosis	BEFREE	11380461		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	18455351		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	25405820		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	17952198, 19295544		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	18793248		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	10843719		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	15001471		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	1702326, 18552209		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	11689460, 16448457, 26388238		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	7524765		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12727841, 15498932, 23056548, 28608115		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15375484		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	25273097	Associate	★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	31083581		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	21645569, 8898941		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	15625200, 17123476, 17514428, 18189279, 20102668, 21655260, 22588665, 24339136, 31111773, 31649298		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36051533	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Edema	Pulmonary edema	Pubtator	32414377	Associate	★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma gangrenosum	Pubtator	24903614, 25501066, 28518224	Associate	★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	28518224		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	BEFREE	27875792		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16709811, 24801648, 9041191		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	27692815, 29294050		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	10403929		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	14693668		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	26710229		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	17003458		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11884470, 14558084, 15248214, 15290728, 17393416, 17845713, 18794853, 19180477, 19435719, 19503088, 19644859, 20192992, 20498205, 20580552, 21645569, 21914625, 22302395, 22505696, 23166616, 23696745, 23896727, 25908480, 27813548, 28455435, 29254239, 30735108, 30902820, 31313080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	15290728, 18794853		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	18794853, 20453842, 23143596, 24390342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	18794853, 20453842, 23143596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	18794853, 20453842, 23143596, 24390342, 24532676, 30423114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	BEFREE	22077624, 29254239		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	34534436	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	15102691		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	10439837, 8623911	Associate	★☆☆☆☆ Found in Text Mining only
Schizoaffective disorder, bipolar type	Schizoaffective Disorder	BEFREE	17192894		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10206241, 10394470, 10618013, 10813805, 11803513, 11803515, 11803532, 12399955, 12450949, 12685995, 1450287, 14569275, 15038993, 15100704, 15465979, 15531077, 15625200, 16469942, 16843094, 16876141, 17012698, 17014995, 17113175, 17192894, 17349863, 17448448, 17475740, 17604606, 1798824, 18056246, 18545269, 18762587, 19961902, 20102668, 20363872, 20382002, 22048129, 22705363, 22981153, 23318559, 23598060, 23910792, 24339136, 25464917, 26441157, 27315458, 27825784, 28606770, 28661580, 29202656, 30790597, 30862179, 30920339, 30974230, 31353068, 31536946, 31649298, 31780341, 31803031, 8094267, 8399828, 8873294, 9012828		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	22231486	Associate	★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	BEFREE	19738033		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	22408080		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	7849738, 8821629		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	16219794		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	BEFREE	17040605		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	10340964, 12472667, 15692983, 34295332	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	11876766, 32843324	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	10903757, 25373542		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	27063419	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	31019235		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	21912605		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10980464, 16433790		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16142355		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32548602	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23000501, 26435503		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	30250646		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	18455351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	18455351		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29985430		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	15200413		★☆☆☆☆ Found in Text Mining only
Steroid-sensitive nephrotic syndrome	Steroid-Sensitive Nephrotic Syndrome	BEFREE	15200413		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	18373164, 19604505, 22722990, 25665853, 26462153		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19865524, 24885116, 35851310, 36600602	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22526791	Inhibit	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	22505696, 36253349	Associate	★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	28518224		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	11465716, 18975310, 22231486, 22731751, 29254239		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	19395464, 31048012		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	28471449		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	11493450, 12676820, 18086125, 22992131, 26719354	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	15164999, 20107176, 23092922, 25653477, 27832278, 30452592, 9792671		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10223618, 15753667, 24526373, 30014762		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	14611700, 21866398, 22863718		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10223618, 15753667		★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	11675676, 27860532	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Shock Syndrome	Toxic Shock Syndrome	BEFREE	30890614		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36161312	Associate	★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	29588321		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	16149136		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	19513023, 19664152, 26706980, 29254239, 30581331, 9928378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	12592374, 14676197, 8524818	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	30225173		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32089541, 37970926	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	15196263	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	21976957		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	22087016, 29254239		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	18977174		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	38030458	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	10623647	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	25405820		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	32111053	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	30245691		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	30245691		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	10566730		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	7524765		★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	12148599, 9780159		★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	7919918, 8195317		★☆☆☆☆ Found in Text Mining only