CTLA4 (cytotoxic T-lymphocyte associated protein 4)

Gene

• Entrez ID: 1493
• Gene name: Cytotoxic T-lymphocyte associated protein 4
• Gene symbol: CTLA4
• Synonyms (NCBI Gene): ALPS5, CD, CD152, CELIAC3, CTLA-4, GRD4, GSE, IDDM12
• Chromosome: 2
• Chromosome location: 2q33.2
• Summary: This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, enco

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs231775	A>G,T	Benign, risk-factor	Coding sequence variant, missense variant
rs3087243	G>A	Risk-factor	Downstream transcript variant
rs606231417	C>T	Pathogenic	Stop gained, coding sequence variant
rs606231418	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231419	G>C	Pathogenic	Intron variant
rs606231420	C>A	Pathogenic	Stop gained, coding sequence variant
rs606231421	G>T	Pathogenic	Splice donor variant
rs886041906	G>A	Pathogenic	Stop gained, coding sequence variant
rs1357409506	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1553657378	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs1553657387	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553657429	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1553657430	C>A	Pathogenic	Coding sequence variant, missense variant
rs1559591695	G>-	Pathogenic	Coding sequence variant, stop gained
rs1581571813	CTGAACCTGGCTACCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1581571901	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1581573640	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1581573705	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1581573923	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004436	hsa-miR-155-5p	Microarray	19193853
MIRT049319	hsa-miR-92a-3p	CLASH	23622248
MIRT503700	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503698	hsa-miR-3924	HITS-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503698	hsa-miR-3924	HITS-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT503699	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT503698	hsa-miR-3924	HITS-CLIP	23824327
MIRT503697	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT503698	hsa-miR-3924	PAR-CLIP	20371350
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	22012620
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT503698	hsa-miR-3924	PAR-CLIP	22012620
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503698	hsa-miR-3924	PAR-CLIP	23446348
MIRT503698	hsa-miR-3924	PAR-CLIP	23446348
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503698	hsa-miR-3924	PAR-CLIP	23446348
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503698	hsa-miR-3924	HITS-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503698	hsa-miR-3924	HITS-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT503699	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT503698	hsa-miR-3924	HITS-CLIP	23824327
MIRT503697	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT503698	hsa-miR-3924	PAR-CLIP	20371350
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	22012620
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT503698	hsa-miR-3924	PAR-CLIP	22012620
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503698	hsa-miR-3924	PAR-CLIP	23446348
MIRT503698	hsa-miR-3924	PAR-CLIP	23446348
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503698	hsa-miR-3924	PAR-CLIP	23446348
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT004436	hsa-miR-155-5p	qRT-PCR, Flow cytometry	37197667
MIRT914813	hsa-miR-3160-3p	CLIP-seq
MIRT914814	hsa-miR-4501	CLIP-seq
MIRT914815	hsa-miR-4504	CLIP-seq
MIRT914816	hsa-miR-4633-3p	CLIP-seq
MIRT914817	hsa-miR-488	CLIP-seq
MIRT914818	hsa-miR-494	CLIP-seq
MIRT914819	hsa-miR-542-3p	CLIP-seq
MIRT914820	hsa-miR-582-3p	CLIP-seq
MIRT1971388	hsa-miR-1248	CLIP-seq
MIRT1971389	hsa-miR-4778-3p	CLIP-seq
MIRT1971388	hsa-miR-1248	CLIP-seq
MIRT2206970	hsa-miR-3182	CLIP-seq
MIRT2206971	hsa-miR-370	CLIP-seq
MIRT2206972	hsa-miR-4297	CLIP-seq
MIRT2206973	hsa-miR-4330	CLIP-seq
MIRT2206974	hsa-miR-4659a-3p	CLIP-seq
MIRT2206975	hsa-miR-4659b-3p	CLIP-seq
MIRT1971389	hsa-miR-4778-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LEF1	Unknown	16297665
MSC	Activation	19561533

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	7807015, 9398332, 9813138, 11279501, 11279502, 20587542, 21982860, 25241761, 26206937, 32296183, 33961781
GO:0005794	Component	Golgi apparatus	IDA	15814706
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	28484017
GO:0005886	Component	Plasma membrane	TAS	3220103
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	TAS	3220103
GO:0006974	Process	DNA damage response	IMP	17875758
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IDA	18641304
GO:0009897	Component	External side of plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0030889	Process	Negative regulation of B cell proliferation	IMP	17875758
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0042130	Process	Negative regulation of T cell proliferation	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	17875758
GO:0045334	Component	Clathrin-coated endocytic vesicle	IDA	15814706
GO:0045590	Process	Negative regulation of regulatory T cell differentiation	IBA
GO:0045590	Process	Negative regulation of regulatory T cell differentiation	IDA	18641304
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15814706
GO:0050852	Process	T cell receptor signaling pathway	IBA
GO:0050853	Process	B cell receptor signaling pathway	IBA
GO:0050853	Process	B cell receptor signaling pathway	IMP	17875758
GO:0098636	Component	Protein complex involved in cell adhesion	IDA	7544393

Other IDs

• MIM: 123890
• HGNC: 2505
• e!Ensembl: ENSG00000163599

Protein

• UniProt ID: P16410
• Protein name: Cytotoxic T-lymphocyte protein 4 (Cytotoxic T-lymphocyte-associated antigen 4) (CTLA-4) (CD antigen CD152)
• Protein function: Inhibitory receptor acting as a major negative regulator of T-cell responses. The affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28. {ECO:0
• PDB: 1AH1, 1H6E, 1I85, 1I8L, 2X44, 3BX7, 3OSK, 5GGV, 5TRU, 5XJ3, 6RP8, 6RPJ, 6RQM, 6XY2, 7CIO, 7DV4, 7ELX, 7SU0, 7SU1, 8GAB, 8HIT, 9DQ3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	41 → 152	Immunoglobulin V-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with highest levels in lymphoid tissues. Detected in activated T-cells where expression levels are 30- to 50-fold less than CD28, the stimulatory coreceptor, on the cell surface following activation. {ECO:0000269|PubMe
• Sequence:

  MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEY
  ASPGKATEVRVTVLRQADSQVTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLR
  AMDTGLYICKVELMYPPPYYLGIGNGTQIYVIDPEPCPDSDFLLWILAAVSSGLFFYSFL
  LTAVSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPYFIPIN

• Sequence length: 223

Pathways

KEGG:

Cell adhesion molecules
T cell receptor signaling pathway
Autoimmune thyroid disease
Rheumatoid arthritis

Reactome:

CTLA4 inhibitory signaling
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)

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
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Pathogenic; Likely pathogenic	rs1688714490, rs2105772857, rs1581573923, rs1688714703, rs606231417, rs606231418, rs606231419, rs606231420, rs606231421, rs606231422, rs2469719636, rs2469719710, rs2469720798, rs2469719282, rs1553657387, rs1381701157, rs886041906, rs2469719657, rs2469719131, rs1553657429, rs1357409506, rs1553657430, rs1559591695, rs1581573970, rs1581571813, rs1581571901, rs1581573705, rs1688656690, rs1688715336, rs1688716836, rs1688718864, rs1688729428, rs1688714312, rs1688711686, rs1688712720	RCV001331373 RCV001974843 RCV001976036 RCV001997536 RCV000148290 RCV000148291 RCV000148292 RCV000148293 RCV000148294 RCV000148295 RCV006437144 RCV003061540 RCV003079037 RCV003016621 RCV003055780 RCV003142406 RCV004725136 RCV003586701 RCV003587877 RCV000652446 RCV000529257 RCV000585701 RCV000694344 RCV000850251 RCV002061137 RCV000800177 RCV000798587 RCV001208574 RCV006436996 RCV001056793 RCV001059257 RCV001057860 RCV001053629 RCV001039297 RCV001046603 RCV001215551 RCV001244418 RCV001239952 RCV001267755	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Celiac disease, susceptibility to, 3	Pathogenic; Likely pathogenic	rs606231417, rs1553657429, rs1581573970	RCV005016468 RCV000768197 RCV002061137	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CTLA4-related disorder	Pathogenic; Likely pathogenic	rs2469719729, rs1688718864	RCV003903848 RCV004731084	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hashimoto thyroiditis	Pathogenic; Likely pathogenic	rs606231417, rs1553657429, rs1581573970	RCV005016468 RCV000768197 RCV002061137	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency, common variable, 1	Likely pathogenic	rs2469719311	RCV002463575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited Immunodeficiency Diseases	Likely pathogenic	rs1581573705, rs1553657429	RCV001027565 RCV001027566	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Systemic lupus erythematosus	Pathogenic; Likely pathogenic	rs606231417, rs1553657429, rs1581573970	RCV005016468 RCV000768197 RCV002061137	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type 1 diabetes mellitus 12	Pathogenic; Likely pathogenic	rs606231417, rs1553657429, rs1581573970	RCV005016468 RCV000768197 RCV002061137	★★★★☆ 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
ANTI-BASEMENT MEMBRANE GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE CHRONIC HEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEMOLYTIC ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS WITH CENTRILOBULAR NECROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY	—	Orphanet	★★☆☆☆ 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
BILIARY CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
chronic fatigue syndrome with infection-triggered onset	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC MYCOSIS FUNGOIDES	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY, SEVERE ENCEPHALOPATHY, PROGRESSIVE CEREBRAL ATROPHY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE OPHTHALMOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTLA4 HAPLOINSUFFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ATOPIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES DUE TO AUTOIMMUNE PROCESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES DUE TO IMMUNE MEDIATED PANCREATIC ISLET BETA-CELL DESTRUCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 12	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, KETOSIS-PRONE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAFT VS HOST DISEASE	—	CTD	★★☆☆☆ 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 DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto thyroiditis, susceptibility to	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HASHIMOTO'S THYROIDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK MALIGNANT NEOPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC DIABETES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	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	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA-LYMPHOMA, ADULT T-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHIC OPHTHALMOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL SUBMUCOSAL FIBROSIS, INCLUDING OF TONGUE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL SUBMUCOUS FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	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
SARCOIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	—	Orphanet	★★☆☆☆ 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 NEOPLASM	—	GWAS catalog	★★☆☆☆ 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 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	Disgenet, GWAS catalog Disgenet, 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	22699762		★☆☆☆☆ Found in Text Mining only
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	17712006		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	25981611, 30465728		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23049754, 31570447		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	10197076, 15621571, 22537753, 9398726		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17678726		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28460468, 31010080		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23047510, 28236980, 29751795, 29844001		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	24764580		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	15888281		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	38415841	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31570447		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	28383639, 28497159		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	CTD_human_DG	26437031		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	30451307		★☆☆☆☆ Found in Text Mining only
Adult-onset myasthenia gravis	Myasthenia Gravis	Orphanet			★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	29200144, 29729943, 32996901	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	30616805		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	22497911, 23163888, 30355938		★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	27776349	Associate	★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	27776349		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	23663310, 27888068, 27917628, 31734564		★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	28815969		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	29979892		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	CTD_human_DG	20596022		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	GWASCAT_DG	25608926		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	29979892		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	20643858	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34427746	Associate	★☆☆☆☆ Found in Text Mining only
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1	Amelogenesis Imperfecta, X-Linked	BEFREE	25942345		★☆☆☆☆ Found in Text Mining only
amyloidosis IX	Amyloidosis	Pubtator	26405069	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	29402823		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	30123257		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	23133602		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	23133602	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	27036622, 32621335, 35228238, 36499545	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Autoimmune	Autoimmune hemolytic anemia	Pubtator	12555221	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	24779034	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	28815969, 31474499		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	20012554, 20030788, 24212676, 26176417, 26232179, 26261646, 26365494, 29675891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28856392, 31613799		★☆☆☆☆ Found in Text Mining only
Anterior uveitis	Uveitis	BEFREE	26373706		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	25944698	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	37055467	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	25944698, 31147569		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30616805		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	15812539, 27036622		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	31845023		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	Pubtator	31845023	Associate	★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	25944698	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	16248997, 23463251, 28148840, 31758536		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	25860138	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	31396201	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	36190378	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	16788246, 20072139, 27092776, 31958219, 36273440, 36443461	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	39662827	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10404054, 16380915, 17666451, 18462498, 19036923, 19300490, 19333938, 19359276, 19503088, 19886735, 21926327, 22355377, 23045162, 23448385, 23661460, 24742142, 28681901, 31907973, 32831971, 32946523, 33059697, 34675934, 35545678, 36443461, 37457686, 39351328	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24019115	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35706043	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	30499246, 30499259		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10792419, 11447385, 12114354, 12417883, 16445777, 16788246, 17469155, 18070230, 19895365, 22376040, 22844542, 23663310, 27917628, 28807506, 29995780, 30556232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	15958078, 16788246, 23663310, 27917628, 31909418, 35029177	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	16926542, 17469155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	10799854		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	18505566	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28027499		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	10613727, 10807521, 11756004, 12873588, 15378793, 18049163, 23551963, 24629822, 25942345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	10052685, 11681491, 12555221, 12694064, 15022315, 15114591, 15994283, 16584111, 16792673, 16869018, 17341301, 17384200, 17427759, 17924973, 18000051, 18041714, 18528295, 18576317, 18778710, 18782261, 19014504, 19333938, 19570209, 19609446, 19622768, 19672595, 19950182, 20072139, 20854658, 21703972, 22053592, 22493691, 22811616, 23049754, 23448385, 23661460, 24466173, 24475110, 24605322, 24764580, 25003519, 25367873, 25383768, 26405068, 26782543, 26963610, 27077771, 27424137, 29359792, 29539619, 29729943, 30024513, 30250467, 30310101, 30319055, 31156616, 32278632, 32328064, 32875738, 32946523, 32996901, 33515242, 35228238, 35459882, 36163113, 36189300, 36389676, 37107632, 37349339	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10201965, 10215771, 10372542, 10404810, 10567049, 10609073, 10724097, 11196709, 11426323, 11509583, 11580858, 11678454, 11842815, 11857062, 11904679, 11936461, 12021137, 12225635, 12384790, 12458054, 12465728, 12555221, 12724780, 12914522, 15022315, 15055474, 15061706, 15114591, 15132716, 15138458, 15142525, 15199380, 15218356, 15305888, 15507878, 15592805, 15596061, 15790353, 15812539, 15858600, 15973119, 16025255, 16025348, 16037385, 16045690, 16046318, 16088318, 16126511, 16229750, 16237465, 16301685, 16305681, 16373368, 16412690, 16445777, 16483921, 16509873, 16670525, 16869018, 16891094, 17192819, 17318654, 17341301, 17459075, 17482523, 17488719, 17712006, 17942509, 17989522, 18056379, 18081831, 18093182, 18200060, 18282809, 18324481, 18498289, 18576317, 18613834, 18691768, 18782261, 18929517, 19066215, 19092854, 19180256, 19188433, 19333938, 19345707, 19376178, 19473815, 19559744, 19570770, 19602000, 19609446, 19622768, 19625381, 19638588, 19734241, 19884265, 20138855, 20196832, 20491567, 20586801, 20854658, 20864151, 20962850, 21044351, 21082224, 21085187, 21131701, 21170090, 21470281, 21612409, 21703972, 21797987, 21832820, 21978690, 22028176, 22053592, 22069271, 22218756, 22245568, 22450550, 22493691, 22508400, 22537753, 22538857, 22700162, 22725958, 22905924, 23049754, 23261825, 23264071, 23351704, 23448385, 23551963, 23567921, 23661460, 23703660, 23849743, 24294607, 24317815, 24382279, 24475110, 24498648, 24665874, 24801647, 24943216, 25003519, 25367873, 25523449, 25643325, 26134669, 26196376, 26405068, 26405070, 26582004, 26656450, 26782543, 27424137, 27730287, 27888068, 28346410, 28525959, 28600865, 28601686, 28646041, 28652580, 28719552, 28747139, 28806575, 28815969, 28900679, 29043574, 29238906, 29305419, 29305966, 29321374, 29359792, 29374027, 29409002, 29539619, 29845333, 30024513, 30048690, 30174217, 30219287, 30262031, 30282994, 30301533, 30310101, 30319055, 30464691, 30542345, 31061392, 31308374, 31473094, 31578334, 31758536, 8817351, 9353155, 9459626, 9857283, 9861324, 9881742		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	10404054, 33932254	Inhibit	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	18200060		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	25367873, 35131574	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	37260808	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	BEFREE	12555221, 30347480, 31653618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	LHGDN	12555221, 15494488		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	26485099, 29073495		★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	34111452, 34438083	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	Autoimmune Lymphoproliferative Disorder	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Syndrome Type II, Polyglandular	Polyglandular autoimmune syndrome	BEFREE	10197076, 22537753		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	LHGDN	15928253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	20134044, 29250672		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27354469, 28679955, 28716895, 30745366		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	15138491		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	19780033		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	16045690, 17284227, 18498289, 19284445, 19563524, 19570770, 23010350, 24991555, 30366049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	24991555	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Berylliosis	Berylliosis	Pubtator	23851684	Associate	★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	LHGDN	18778710		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	30578687		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	28988016	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	14678452, 21040781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	14678452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	14678452, 21040781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	14678452		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24390231, 27873300, 28214651, 29133939, 29855698, 29974196, 30446009		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	23900675, 27644617		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	23900675	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	15196256, 29200144	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	30796716		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	29391205		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	37586773, 38267913	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	40621453	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15218356, 16527605, 17825114, 20578982, 22249287, 23114578, 24493286, 25408372, 27381613, 28056464, 28097051, 28099147, 28416762, 28558959, 29118259, 29163490, 29282694, 29371976, 30624770		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17825114, 18566447, 23320561, 24716930, 25893809, 27117582, 28099147, 28388539, 29672601, 29983831, 32602545, 33072070, 33420250, 34440813, 35614183, 36271406, 36388159, 36539586, 36901916, 36951624, 38069525, 38242720, 39874011, 40108523	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20306312, 30484986	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36423363	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	12114354, 12417883		★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	LHGDN	18256061		★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	Pubtator	18256061	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis Chronic	Bronchitis	Pubtator	19386687	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	BEFREE	19386687		★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	31623599	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22359319, 25667935, 38597079	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28515962, 29120224, 31317017		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	19622768	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	29672601	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17372588, 31448426	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23423978, 26437631, 26823853, 29666149, 31335675, 31448426, 31568700, 31724091, 31810126, 31927532, 32086577, 32148378, 32863381, 33072070, 33495920, 33725827, 34053310, 34423049, 34777920, 34839280, 34925377, 35040184, 35236323, 35525950, 35592706, 36525476, 36999652, 37081394, 37377962, 37584192, 37632959, 37858067, 37903974, 38042211, 38494878, 38604154, 39511687, 39712016	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37332118	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	26249178	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	29672601	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	26729235	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	29672601	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24390231, 25498841, 27873300, 28214651, 29133939, 29855698, 29974196, 30446009		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19920108, 20082854, 28064556, 28252315, 28258697, 29187584, 29525401, 29666465, 30397353, 30425525, 30746209, 30841910, 30851071, 31010080, 31079031, 31413913, 31694838		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35468838, 35836806, 36281157, 40244011	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	16301685, 24764580, 27292320, 29301960, 33416945, 33735492, 34446578, 34535962, 35808868, 36091050, 36397666, 36479115, 36618968, 36734432, 36849551, 36894965, 37653791, 37908350, 39776912, 40243888	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19622768, 28423034, 28707078, 34887858, 35799269, 36544782, 37280525, 38161143, 40005446	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26134222	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	19622768		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	24764580		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	29402823		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	10606960		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	20145677	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	34489963	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	20145677		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	20145677, 31620363		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	19619703, 30227886, 31275310	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	19619703, 35977003	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	29606147	Stimulate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	10189842, 10372542, 10599894, 11098935, 11843030, 12174216, 12559633, 12883299, 14675397, 14712308, 14989710, 15199380, 15245375, 15496203, 15657618, 15713213, 15784471, 16025348, 16237465, 16567828, 17438672, 17767555, 18929517, 19020530, 21378598, 26405070, 26782543, 27015091, 7282774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	LHGDN	11826026, 12559633, 15657618, 17767555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	19073967, 19672595, 21378598, 26405070, 35935971, 38040898	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central Nervous System Diseases	Central nervous system disease	Pubtator	28845512	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	32499327	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	29651892	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	29651892	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	33734490	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	20927633		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30796716		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17341658, 20538028, 20615526, 23830732, 24122201, 24126947, 24201079, 24317815, 24493286, 30084412		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17341658, 20538028, 20615526, 23830732, 24122201, 24126947, 24201079, 24317815, 24493286, 30084412		★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	10411929		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	31570447		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	19895365, 27917628		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31195061, 31568700		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34526987	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	BEFREE	31053161		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	21277929		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	18930330		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	31614500		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	24313821		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12555221, 15138491, 23936412, 29775689, 30910862, 31270810		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	19386687, 20732370, 24228119, 28190271, 28340574, 31676387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	11144404, 22497911		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	31396201	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis, Cryptogenic	Cirrhosis	BEFREE	18049163		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	26403483		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34427746	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18832683, 20445568, 23521917, 28000302, 28548891, 28560327, 28967957, 29230210, 29358873, 30170560, 30275274, 31043740, 31214189, 31610336		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	30227886, 32996901	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	16015687, 28453768, 31191543, 33802979, 37055495	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17678726, 29915296, 30122952, 31412307, 31627712		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17678726		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	22319577, 32468013, 35413978, 35712285	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18031393, 18680513, 26408701, 28258697, 28603527, 29705788, 29900067, 30122952, 30334238, 30623416, 30713804, 31117039, 31444293, 31727009, 31775909		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	15888281		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18031393		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25583798, 30081950, 31429779, 31921188, 32111794, 32265897, 32379280, 32393998, 32577816, 33622891, 33811152, 33849927, 34349038, 34429334, 35101943, 35434132, 35456394, 35471834, 35937946, 35979362, 36308182, 36389750, 36539586, 36631610, 36897681, 37107632, 37178411, 37761948, 37945594, 38085001, 38092774, 38212126, 38417442	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35110358, 37269904	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	29710228	Associate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	25329329		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	10760795	Inhibit	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	17192819, 19020530, 22699762, 23432692, 26485099		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	23432692, 29867916, 30723478, 33859323, 34247288, 40703516	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	GENOMICS_ENGLAND_DG	25329329		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	29476189		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26403483, 28210995, 28416753, 29230210, 29942309, 29974196, 29977349, 30124333, 30158285, 30577709, 31137694, 31549270, 31817109		★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	19609446	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	27894401		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27894401, 29729899		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	33507988	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	27894401		★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	30657646		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	12465728, 16015687, 17465502, 18512248, 20537165, 21251066, 24374044, 24530750, 25367873, 30213296, 30301533		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	16015687		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	16015687, 20537165, 25367873, 37047025	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	38517030	Inhibit	★☆☆☆☆ Found in Text Mining only
CTLA4 deficiency	CTLA4 Deficiency	GENOMICS_ENGLAND_DG	25213377		★☆☆☆☆ Found in Text Mining only
CTLA4 deficiency	CTLA4 Deficiency	BEFREE	27418640, 28601686, 28806575		★☆☆☆☆ Found in Text Mining only
CTLA4 Haploinsufficiency	CTLA4 deficiency	BEFREE	25213377, 25329329, 25638260, 30087679, 31156616		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTLA4 Haploinsufficiency	CTLA4 deficiency	ORPHANET_DG	25213377		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTLA4 Haploinsufficiency	CTLA4 deficiency	UNIPROT_DG	25213377, 25329329		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTLA4 Haploinsufficiency	CTLA4 deficiency	GENOMICS_ENGLAND_DG	25329329		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTLA4 Haploinsufficiency	CTLA4 deficiency	CLINVAR_DG	29077208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTLA4 Haploinsufficiency	CTLA4 deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	BEFREE	28325255, 28508938, 30355485, 30993893		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystitis Interstitial	Interstitial cystitis	Pubtator	23670165	Associate	★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	34427746	Stimulate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	34097529	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30544950		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	11555351	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	20673989, 28264025, 31632405		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	26124183	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	11028864	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	16101935		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	BEFREE	16445777, 20673989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatomyositis	Dermatomyositis	BEFREE	30451307		★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	23851684		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10724097, 11016460, 11092697, 11606170, 11788096, 15657618, 15711022, 16276008, 17257313, 17496359, 18400329, 18443194, 19895409, 20196832, 8817351, 9353155		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	29511375	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10724097, 11016460, 11092697, 11606170, 11788096, 12021137, 12515273, 15657618, 15711022, 16276008, 17257313, 17496359, 18400329, 18443194, 19895409, 20196832, 23265864, 24085454, 29319618, 30988065, 31423559, 8817351, 9353155		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10724349, 11092697, 11286636, 12003670, 28520980, 28684632, 36622793	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	10364920, 10593567, 11092697, 11145035, 11286636, 11507694, 12003670, 15022315, 15928253, 16206510, 16325273, 16519819, 16792673, 17280620, 17334650, 17924973, 18292987, 18443194, 18782261, 19136655, 19141582, 19143820, 19188433, 19506323, 19672595, 19956097, 19956109, 20610662, 21270831, 21829393, 21873553, 22466347, 23039883, 23367498, 23628620, 24572742, 26405068, 26405070, 26405073, 27424137, 28262800, 30814440, 31771625, 32996901, 34054801, 36091019, 36622793, 37164005, 9353155	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	25523632	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27424137, 29511375, 40689274	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10052685, 10364920, 10522814, 10593567, 10619986, 10671941, 10724097, 10782900, 10868973, 10895849, 11092697, 11158025, 11286636, 11327371, 11477480, 11522687, 11606170, 11681491, 11685455, 11894970, 11978629, 12003670, 12021137, 12047357, 12047362, 12116172, 12121283, 12136340, 12185534, 12529710, 12610047, 12618861, 12724780, 12919291, 14709415, 14972324, 15037990, 15142525, 15210771, 15237707, 15301861, 15305888, 15579786, 15592805, 15711022, 15860238, 15928253, 15961581, 16025348, 16046318, 16257508, 16313305, 16325273, 16352685, 16390390, 16519819, 16568259, 16629714, 16671945, 16750991, 16891094, 17130532, 17130562, 17209142, 17257313, 17334650, 17448564, 17452059, 17496359, 17611256, 17659059, 17937736, 18056379, 18292987, 18324481, 18443194, 18776148, 18782261, 19073967, 19136037, 19141582, 19143820, 19147248, 19188433, 19332045, 19376178, 19473815, 19490216, 19506323, 19547759, 19578600, 19592124, 19815302, 19895409, 19949652, 19951419, 19956097, 19956106, 19956109, 20196832, 20610662, 20962850, 21470281, 21615267, 21873553, 22218756, 22466347, 22537753, 22932816, 22932817, 22964358, 23009570, 23261825, 23367498, 23490285, 23539116, 23628620, 23911738, 24085454, 24103478, 24390983, 24465825, 25042601, 25980680, 26051683, 26134418, 26385826, 26405068, 26405070, 26546236, 26575162, 26656450, 26782543, 27352912, 27424137, 28060767, 28262800, 29603038, 29808365, 29859273, 30167736, 30214462, 30814440, 31094250, 31808541, 8817351, 9259273, 9353155, 9497784, 9690057, 9861324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	11286636, 12021137, 16390390, 18580850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 12	Diabetes Mellitus	BEFREE	10593567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 12	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11158025, 11606170, 12950147, 15305888, 17257313, 20805278, 27424137, 29511375, 29808365		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	17488719, 17558709, 17942509, 21873553, 29367462		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	15860238		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33958973	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	30227886, 32996901	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	28326838		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30745366		★☆☆☆☆ Found in Text Mining only
Diffuse Scleroderma	Scleroderma	BEFREE	16189655		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	11041456, 11583755, 12534352, 16893393, 18296657, 19524188, 19734241		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	36724016	Associate	★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal ulcer	Pubtator	12738386	Stimulate	★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	37870923	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	16445777, 19895409, 20673989		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	31118078		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26546236		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	15132716, 22537753, 26575162, 30184160, 30791949		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30247204		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	28951454	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33072070, 34158412, 34970268, 35242299, 36509464, 36805217	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	16373368, 21599853, 27989857		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	33668701, 36011263	Associate	★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	BEFREE	28368458		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	11290768		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26709093, 27050369, 27577071	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31485274, 34616847, 34712369	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	22905924, 23480667, 27644617		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	32100077	Associate	★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	28101800		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	36555549	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	32328064	Associate	★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	23975748		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	23891730	Inhibit	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34427746	Stimulate	★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	33717114	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	33856094	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	28007774		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	31614500		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	21277929		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	26709093		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	37435729	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	39644111	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22485134, 26323609, 28730140, 29302887, 31119182, 31302496, 31632537		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29302887, 30353265, 32310827, 33072070, 34168003, 38057698, 40016450	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34728682	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22485134, 26323609, 29302887, 31119182, 31302496, 31632537		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16723631, 22485134, 29396294, 35481923, 36311792, 39513613	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21165767, 28810147, 30524896, 31470166		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	LHGDN	12032199		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	31177287		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	31177287	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	29539619	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	37075987	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	40022684	Stimulate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	17384200, 21703972, 25940108, 26555814, 9546357	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graft-vs-Host Disease	Graft-Vs-Host Disease	CTD_human_DG	14642129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	21081144, 21703972, 24564845, 28679300, 28953925, 30102255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatosis	Granulomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	10685804, 11838849, 12022356, 15334480, 15675141, 15708894		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	11678911	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	LHGDN	12022356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	15334480, 15708894, 16918819, 24356554, 36613701, 9764612	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	ORPHANET_DG	22508400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	36613701	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Slack Skin	Granulomatous Slack Skin	CTD_human_DG	26258847		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10197076, 10364920, 10369864, 10404810, 10770195, 10924276, 11001797, 11041456, 11134121, 11583755, 11726229, 11936461, 12030917, 12097196, 12529710, 12534352, 12593721, 12610047, 12724780, 12780750, 14567561, 14675397, 14751028, 14986169, 15242676, 15507878, 15640608, 15785242, 15943829, 16040335, 16220002, 16297665, 16313305, 16571085, 16611252, 16756466, 16893393, 17000707, 17033967, 17048303, 17504905, 17526951, 17941906, 17942509, 17949264, 18059468, 18296657, 18493148, 18752454, 18780601, 19284444, 19438904, 19524188, 19731979, 19734241, 20300120, 20352109, 22053592, 22218756, 23104008, 23544060, 23597029, 24289805, 24364045, 24697361, 25455162, 25936345, 26943356, 27111218, 27638540, 27810496, 28776731, 30223781, 30771152, 31684013, 31708111, 7829637, 8780695, 8817351, 9231050, 9398726, 9459626, 9672157, 9828915		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	10364920, 10724349, 14567561, 16040335, 17033967, 17048303, 20352109, 22053592, 23104008, 23544060, 25061884, 26943356, 27111218, 27638540, 28919585, 29093229, 30223781	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	LHGDN	15785242, 16893393, 17526951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	CTD_human_DG	19731979, 21841780, 23104008		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	17048303, 22663548, 25653477, 27638540, 34859391	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	37349339	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	11288988, 12529710, 15055474, 16611252, 17504905, 18752454, 20134044, 20408864, 21503616, 22922453, 23138463, 23661465, 23677500, 23860622, 24498648, 27111218, 29174716, 29250672, 29461867, 30771152, 9672157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	LHGDN	15055474, 16611252, 17504905, 18580850, 18752454		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto disease	Pubtator	17459075, 20408864, 27111218, 28660994, 36724016	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto disease	Pubtator	21147625	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	25832655, 28408386, 28915554, 30485427, 31317017		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	23023383, 25832655, 33327297	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	32499327	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	27894401		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	17652883, 36555549	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	34474769	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	31395100		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	39832463	Stimulate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	12555221, 15114591, 34111452	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	20020126, 27664133, 28751785, 29069302, 29564225, 29775689, 30464684, 31186046, 31808941		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	22178694	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15114591		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	37870923	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	18081831		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	21362111	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	22057736		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	29359792, 30355938	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	18449568, 22700162		★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	15378793, 28257599, 31396201, 36741403	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	16688797	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	24188429, 36635631	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis B	Hepatitis b	Pubtator	37201112	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis B Chronic	Hepatitis b	Pubtator	29666149, 37260808	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	26401079	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	29710228		★☆☆☆☆ Found in Text Mining only
High Grade Lymphoma (neoplasm)	High Grade Lymphoma	BEFREE	30040869		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	20220088		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	12100149, 31697809, 33876323, 9546357	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28203344, 28383639, 28497159		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	17483299		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	17287608		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	9546357	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	33734490	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	36555549	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23918240, 31004464		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	12050220, 22017306		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	Pubtator	20408864	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogammaglobulinemia	Hypogammaglobulinemia	GENOMICS_ENGLAND_DG	25329329		★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	29200144, 30565239, 31486986		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	29971696		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	30791949		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	LHGDN	11842815, 12724780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	20408864, 22493691, 32996901, 36724016	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	BEFREE	22493691, 28073132, 30242549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	31518074	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	34484235	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36445478	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	10678620	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	29539619		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	12100149, 15138491, 24376655, 25626682, 27917628, 28159733, 28951454, 29200144, 29691917, 34707038, 35524382, 35769457, 36273440, 36405723	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	17989522, 23776439		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	37139184	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	12555221, 21034161, 22526360, 29359792, 30319055, 30552097		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	19020530		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	15138491, 24892807, 28600865, 31308374, 31578334		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	33668701	Associate	★☆☆☆☆ 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	12465728, 15784471, 16015687, 18832683, 19230040, 20491567, 20537165, 24374044, 24530750, 28093620, 30213296		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	16015687, 19230040, 20537165, 25367873, 26305224	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	20673989		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	30024513	Associate	★☆☆☆☆ Found in Text Mining only
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome	BEFREE	22450550		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	26134418		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	15784471		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	GENOMICS_ENGLAND_DG	25329329		★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iridocyclitis	Iridocyclitis	LHGDN	17287608		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	19284445, 29651892		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	16788246, 18576317, 20072139		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23975748, 27440778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	25667935, 36275893, 36384506	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	15708894	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31653633		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	24313821		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	23252863		★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Autoimmune Diabetes	BEFREE	12021137, 19332045, 19735686, 25005490, 25695113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	16206510, 20805278, 27357431, 31771625	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leishmaniasis Cutaneous	Leishmaniasis	Pubtator	15716079	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	23283468	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	29104093, 9225967		★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	22556091, 24214631	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12393538, 18569641, 21703972, 29697355, 36706355, 37776850, 37928542	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22245568		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	29697355	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	12393538	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12393538, 29697355, 30500073, 30911002, 32245463, 32856848, 33072070, 33649342, 33758676, 37928542, 38536023, 38615511	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17367412, 19092854, 24270737, 28321813, 28679300, 29206680, 31244654, 31570447, 31612643		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	24270737		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	23133602, 28967792		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Libman-Sacks Disease	Nonbacterial verrucal endocardiosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	23246583, 31533840, 31804466		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	34465597	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19093253, 23466307, 28147363, 28493410, 28648905, 29138342, 29258079, 29593893, 29666149, 29705790, 29959458, 30688989, 31171886, 31335675, 31448426, 31750237, 31811905, 31822654		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	21615390		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	15378793, 16584111, 18041714, 18778710, 19333938, 20578265, 28425483, 28922436	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	LHGDN	15208156		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	28176332	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	36635631	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	28363639		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	32148378	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22811616	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	32996901	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	11970966, 24357746, 26280204, 27866241, 30397353, 30841910, 33507988	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15846492, 17041104, 20082854		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34510768	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	10364920, 11678447, 17000707, 17509159, 21792837, 9857283		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	36212172	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Discoid	Discoid lupus erythematosus	Pubtator	36212172	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	10364920, 15248219, 15818712, 19173720, 19672595, 19758313, 19919693, 19950182, 21792837, 21915163, 21952918, 22053592, 23448385, 25098715, 26782401, 29161463, 33777025, 34240405, 34736521, 36189300, 37061279, 8603537	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	16423064	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	10364920, 11678447, 17000707, 17509159, 21792837, 9857283		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10364920, 10609073, 10643707, 10674972, 11426024, 11678447, 11678454, 12384790, 12791095, 14522090, 15138458, 15248219, 15540511, 15818712, 16423064, 17000707, 17509159, 18185908, 19173720, 19602000, 19951233, 21792837, 22053592, 22718509, 23289635, 23323522, 23448385, 23922195, 24382279, 24400885, 24940764, 26582004, 26782401, 27894401, 29456655, 29848360, 31399013, 31787598, 9550468, 9857283		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	12384790, 12791095, 15248219, 15540511, 17000707, 17712998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	ORPHANET_DG	23922195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	CTD_human_DG			★★☆☆☆ 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	BEFREE	30928350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus nephritis	Pubtator	34736521	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus nephritis	Pubtator	37061279	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Vulgaris	Lupus Vulgaris	BEFREE	10364920, 11678447, 17000707, 17509159, 21792837, 9857283		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	31437431		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28707078, 33335608, 35091676	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	20224272		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	LHGDN	12393538		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	24523507, 26581237, 28716895, 29850620		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	24523507, 29729943, 30250467, 34707038	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	33335718	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	27228053	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	15114591, 15953005, 23829277		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	LHGDN	15114591		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	15114591, 15953005		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	16417239, 24523507, 29895574		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	CTD_human_DG	26258847		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	29200144, 29729943		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	10411929, 28216262, 28574977, 30616979, 31758536		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	29710228		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	11555351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	11555351, 21040781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	27644617		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	30249211		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	25832655, 28408386, 28915554, 30485427, 31317017		★☆☆☆☆ Found in Text Mining only
Malignant Meningioma	Malignant Meningioma	BEFREE	30546952		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15218356, 16527605, 17825114, 20578982, 22249287, 23114578, 24493286, 25408372, 27381613, 28056464, 28097051, 28099147, 28416762, 28558959, 29118259, 29163490, 29282694, 29371976, 30624770		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30247204		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	16301685, 26403483, 29983240, 30374524, 31126191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	20538028		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19920108, 20082854, 28064556, 28252315, 28258697, 29187584, 29525401, 29666465, 30397353, 30425525, 30693623, 30746209, 30841910, 30851071, 31010080, 31079031, 31413913, 31694838		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	31533840, 31804466		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22011251, 22359319, 28527946, 28856392, 29385739, 31412220		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25111463, 28101800, 28346412, 29490991, 30188869, 30894362, 30984182		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	19622768, 24376736		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19688278, 25267951, 26644313, 29374027, 30138920, 31767616		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30123257		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24390231, 27873300, 28214651, 28393361, 29133939, 29855698, 29974196, 30446009		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15888281, 18303116, 18680513, 18691768, 18757416, 18832683, 19581407, 19787358, 20482250, 20920330, 21387262, 21669243, 22071969, 23049754, 23246583, 24317815, 24376736, 24493286, 24705298, 24710335, 24716930, 24801647, 24892807, 25111463, 25207371, 25517610, 25555570, 25667935, 26091825, 26365494, 26703804, 26785143, 26992368, 27076165, 27245147, 27354469, 27418640, 27491050, 27498821, 27604307, 27683114, 27846884, 27884973, 28000537, 28031229, 28056464, 28093620, 28184224, 28198830, 28210995, 28211499, 28216262, 28252315, 28258692, 28258697, 28289089, 28321130, 28325750, 28335888, 28359471, 28383639, 28393361, 28416762, 28497159, 28527946, 28560327, 28611299, 28646041, 28653573, 28653677, 28674083, 28679835, 28681030, 28716895, 28753231, 28864844, 28901560, 28947417, 28967957, 29018057, 29023417, 29061772, 29108766, 29113654, 29125905, 29150430, 29180535, 29207143, 29217732, 29241377, 29246938, 29250474, 29256113, 29283446, 29296539, 29309048, 29319049, 29375120, 29385739, 29392770, 29463898, 29472691, 29480817, 29484440, 29518754, 29566262, 29593893, 29633300, 29644214, 29713453, 29735668, 29735917, 29751795, 29769148, 29794444, 29794465, 29848573, 29864619, 29872559, 29892809, 29904196, 29961183, 29997292, 30040869, 30054281, 30063587, 30078171, 30089500, 30101407, 30115704, 30131322, 30139814, 30184160, 30233564, 30242549, 30250467, 30250823, 30279188, 30287678, 30291135, 30326786, 30413665, 30417020, 30428588, 30476730, 30577709, 30624770, 30659054, 30786013, 30816886, 30833000, 30867826, 30885360, 30910862, 30916827, 30941125, 30945313, 30961814, 31066582, 31069141, 31078738, 31079031, 31126191, 31137683, 31156616, 31164357, 31174203, 31196207, 31253869, 31267017, 31325788, 31346927, 31382144, 31383402, 31405808, 31444293, 31494024, 31502147, 31524014, 31537897, 31542865, 31549270, 31593084, 31609157, 31627712, 31681269, 31696332, 31720083, 31730903, 31756921, 31758536, 31763151, 31796506, 31807510, 31833606, 31836191, 31841301		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	28991373		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17341658, 20538028, 20615526, 23830732, 24122201, 24126947, 24201079, 24317815, 24493286, 30084412		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17678726, 29915296, 30122952, 31412307, 31627712		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17825114		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26701087, 30228950, 31796506, 31840816		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	29155997, 31429779		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	16301685, 18452610, 18528295, 18563180, 19789309, 21558401, 23354891, 24173147, 24475110, 24639349, 25409260, 26940869, 27549123, 27549193, 27650038, 27776349, 27918555, 28526721, 29150430, 29793878, 29997292, 30250467, 30355485, 31156616, 31275310, 31396201, 32863946, 33109023, 33196890, 33344042, 33506034, 33643691, 33753855, 34308699, 34389558, 34446578, 34743688, 34764492, 34795662, 35046061, 35087523, 35247927, 35280982, 35659704, 36248850, 36273464, 36539586, 37037616, 37217516, 37229906, 37507765, 37525015, 38167503	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	18528295, 19581407, 21044351, 22028176, 23641913, 23811319, 24054424, 24475110, 24581497, 25658614, 26091825, 26813076, 26940869, 27549123, 27549193, 27664133, 27668655, 27756874, 27776519, 27910859, 27951441, 28239469, 28258697, 28259284, 28321814, 28325255, 28363614, 28381405, 28393361, 28497159, 28508938, 28533998, 28634284, 28648302, 28658143, 28666979, 28716895, 28746871, 28820000, 28822576, 28931755, 29069302, 29118259, 29120224, 29150430, 29187493, 29207143, 29250474, 29309048, 29386395, 29403496, 29405038, 29473471, 29490991, 29593893, 29606147, 29618619, 29633300, 29644214, 29656892, 29704887, 29713453, 29750753, 29769148, 29872559, 29917141, 29973204, 29974196, 29997292, 30063587, 30154648, 30175642, 30209062, 30227886, 30304963, 30311027, 30344757, 30349540, 30368866, 30374524, 30386910, 30409824, 30412106, 30497614, 30693623, 30694757, 30852164, 30941125, 30975201, 30993893, 31043740, 31079031, 31145230, 31171876, 31239316, 31270810, 31317017, 31321613, 31405808, 31412220, 31423850, 31445219, 31549270, 31676387, 31682039, 31707222, 31785018, 31833606, 31836957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	18563180, 18665147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	21802280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	27956380, 29132144, 29606147, 30175642, 30412106, 31300034, 31727009, 31783990, 32042196, 33335718, 33483342, 35107815, 37197667, 37450415, 37593676, 38171116, 39394099, 40222200	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	40621453	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	30993893	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	31138334, 36466837, 38279987, 39596391	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	23975748		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	30546952		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30544950		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	21040781		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	29069302, 29217732, 31287031		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	27207606, 28252315, 29473471, 30441807, 31046484, 31537897		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	36669143, 36901697	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	27207606, 36172747, 39966970	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	19619703	Inhibit	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	19619703	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19619703		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	16301685, 21044351, 22500535, 23222297, 23641913, 24054424, 24639349, 25207460, 25922203, 26359337, 27549123, 27667683, 28344807, 28356263, 28368458, 28374234, 28383639, 28446908, 28473314, 28484017, 28500560, 28574977, 28604554, 28679287, 28785544, 28926356, 29190182, 29382383, 29656892, 29751795, 29793878, 29808365, 29843107, 29961183, 29965858, 29983240, 30002656, 30107088, 30143953, 30288340, 30311027, 30529903, 30557166, 30681807, 30747264, 30789386, 30828569, 31056729, 31300034, 31300044, 31317218, 31340861, 31604452, 31614774, 31727009, 31801732, 31803366, 31824260, 31848819		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	16362660		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	16362660		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	19766059, 22727980, 27351445, 28224680, 30622243, 31138782, 31329823, 9881742		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	11167807		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	29710228, 34474769	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	25029526	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	12653853	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	21082224		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	25039241	Inhibit	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	LHGDN	16849765		★☆☆☆☆ Found in Text Mining only
mucosal melanoma	Mucosal Melanoma	BEFREE	30631354		★☆☆☆☆ Found in Text Mining only
Mucositis	Mucositis	Pubtator	21378598	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11167807, 21744007, 25099367, 29264740, 31164886, 31620907		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11167807, 21744007, 25099367, 30250467, 36982802, 37122695, 37776850	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	14717778	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10082437, 10408973, 10567049, 11098935, 11426323, 11710992, 11880164, 12458054, 12507781, 12604314, 12838528, 12864988, 12894875, 12935779, 14616291, 14724692, 14975605, 15180809, 15596061, 15652423, 15904974, 16325273, 16769128, 17439880, 17524498, 17920697, 17942509, 18378005, 18691768, 18705023, 19737153, 19740340, 21131701, 21797987, 22488447, 23351704, 24665874, 26531698, 31134049, 31228212, 31731231, 9862327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	12838528, 15652423, 15904974, 17970696, 18691768		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	21731726, 23039885	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	24572742, 31228212, 33224992, 34667129, 35868128	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	27481207		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	10713366, 11426323, 11857062, 12225905, 15677327, 16178018, 18088253, 18567864, 18595775, 19345707, 22218756, 24294607, 24373506, 25003519, 27501803, 28599652, 29718870, 30009380, 30828569, 31118078, 31473094, 9688341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia Gravis	LHGDN	16178018, 18088253, 18595775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia gravis	Pubtator	18088253, 25003519, 25643325, 34279044, 36697230	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mycosis Fungoides	Mycosis fungoides	Pubtator	16417239	Stimulate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	33968070	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24270737, 31156799		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24270737, 32856848, 33730109, 36282797, 36988276	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28074067		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	28506100		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	17652883	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	35524382	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocarditis	Myocarditis	LHGDN	16198253		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31085720		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	10433938	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	10433938	Stimulate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	15237707		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19922464, 30638177		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26918337, 37188668	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	30059947		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11244047, 15289349, 15846492, 16037385, 17678726, 18713980, 19008459, 19913589, 20446067, 20578982, 21159637, 22318401, 22331080, 22777737, 23799135, 23849743, 23936819, 24721645, 24892807, 25111463, 25267951, 25287912, 25365349, 25555570, 25638260, 25745993, 26249178, 26323609, 26439694, 26829099, 26940869, 26980598, 27045022, 27207606, 27549123, 27564404, 27655434, 27667683, 27705804, 27768639, 27826115, 27846884, 27864228, 27872096, 27873300, 28031159, 28038471, 28064556, 28069723, 28176947, 28197366, 28236980, 28291636, 28351777, 28351930, 28362496, 28416753, 28423034, 28434399, 28473314, 28501941, 28606922, 28623775, 28644433, 28648905, 28652780, 28666747, 28666979, 28680745, 28707078, 28716895, 28762116, 28763794, 28771750, 28807001, 28835114, 28839202, 28847682, 28856392, 28861871, 28888577, 28900679, 28915554, 28920005, 29047105, 29061772, 29065979, 29072624, 29097422, 29099676, 29118259, 29129918, 29155997, 29180535, 29185392, 29206680, 29238207, 29249395, 29282694, 29296535, 29296539, 29339377, 29377881, 29398572, 29402823, 29463898, 29472691, 29485848, 29490991, 29527212, 29552143, 29556048, 29581255, 29620207, 29642147, 29682176, 29710228, 29712568, 29713453, 29721371, 29729581, 29797233, 29912725, 29949442, 29955905, 29960886, 29973204, 30018044, 30040869, 30054333, 30063587, 30108589, 30123257, 30138920, 30139814, 30174217, 30185216, 30191417, 30247918, 30259383, 30287678, 30288361, 30326786, 30397353, 30441807, 30514791, 30530991, 30542345, 30619178, 30622534, 30642913, 30681807, 30753825, 30760527, 30782667, 30844573, 30869653, 30879760, 30910862, 30917623, 30933045, 30941125, 30952743, 30975201, 30995478, 31076558, 31085177, 31138334, 31138782, 31150505, 31192129, 31244820, 31275310, 31287031, 31300034, 31379815, 31387102, 31405808, 31412220, 31429779, 31484064, 31487876, 31502147, 31519811, 31533840, 31590386, 31604537, 31605245, 31609157, 31613799, 31614500, 31636098, 31646098, 31697809, 31754400, 31771649, 31771984, 31785018, 31795835, 31796506, 31806638, 31836191, 7520026		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	36384506	Associate	★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	19056875, 25017621	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	27424137	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	27604307		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27826115, 29377881, 31810498		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28027499		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	10908195, 27424137		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	23133602, 28967792		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	30638177		★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	BEFREE	29250672		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19538059, 22318401, 23936819, 24192124, 24880938, 26940869, 27553831, 27816393, 28236980, 28239469, 28340574, 28383639, 28388076, 28460468, 28666979, 28707078, 28820000, 29055841, 29100337, 29125731, 29187584, 29318609, 29383034, 29403496, 29440769, 29620207, 29657128, 29670099, 29735366, 29769148, 29931587, 29951309, 29958099, 30279188, 30397353, 30524886, 30539506, 30642913, 30681807, 30734504, 30903517, 31253869, 31319988, 31423850, 31803366, 31810958		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	26249178		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30024513, 30135180, 30508004, 30922394		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30024513	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	40689274	Inhibit	★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	BEFREE	28185879		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	32499327	Associate	★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	15061706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral Submucous Fibrosis	Oral Submucous Fibrosis	CTD_human_DG	16311067		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	BEFREE	29046115		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21453059, 21612409, 24078408, 24729087, 25230787, 27644617, 28052683, 30775238		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23900675	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	10606960, 32334621, 34622876, 35046435	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10606960, 23354626, 24764580, 32127601, 34260536, 35137909, 35186171, 35545291, 36189254, 37759229, 37868825, 39608974	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26166762, 34322886	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22011251, 22359319, 28856392, 29385739, 31412220		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	23924790, 28856392, 28942020		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22359319, 23359812, 26191284, 28639886, 28684632, 34332578, 36740149, 38012210	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37332118	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	LHGDN	18341485		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29971244, 31076344		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30123257		★☆☆☆☆ Found in Text Mining only
Paracoccidioidomycosis	Paracoccidioidomycosis	Pubtator	20643858	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	18664281, 20945034, 22647666	Inhibit	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33552685	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	23924790, 27910859, 30897181		★☆☆☆☆ Found in Text Mining only
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	BEFREE	10685804, 11838849, 12022356, 15334480, 15675141, 15708894		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	21084022, 28274366		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	32875738	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	20433886, 21084022, 27424220		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	21084022, 31342641		★☆☆☆☆ Found in Text Mining only
Perforation of colon	Perforation Of Colon	BEFREE	31610336		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	BEFREE	30851443		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	10632663, 23163888		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	10632663, 18783892, 22497911, 23163888		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	10632663, 30355938, 33059697	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	LHGDN	18783892		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	21228734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	21228734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	27424137	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	21228734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	10606960	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	16869018	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	32652004, 33112279	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	37870923	Stimulate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	27207606, 28506100		★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	27142840		★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	31396201		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30024513		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	30024513	Associate	★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	10197076, 16313305, 28931755		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	Pubtator	10433938	Stimulate	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	12409186, 28134083, 30451307		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	10782900, 12911663, 15378793, 17482523, 18049163, 18778710, 18930330, 19333938, 20557968, 21594562, 21722820, 22118691, 22414241, 22609442, 23432218, 25942345, 28642883, 28922436, 31027870		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Hypothyroidism	Hypothyroidism	BEFREE	31518074		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	16638702		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25111463, 28101800, 28346412, 29490991, 30188869, 30894362, 30984182		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	26993768	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18523152		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28027300, 28101800, 32552802, 33934205, 34573332, 36389756, 36539586, 37179366, 37223924	Associate	★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	29539619	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	28104239		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	10974034, 27185339	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	18093182, 19345707		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	LHGDN	18093182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	16712655, 18093182, 29850619		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	26899867		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	36555549	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19386687, 28190271, 37286295	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21072213, 30315241		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rasmussen Syndrome	Rasmussen`s Syndrome	BEFREE	24269013		★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	16869018	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	26403483, 29983240, 30374524		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16301685, 17678726, 22331080, 26403483, 28210995, 28416753, 29230210, 29942309, 29974196, 29977349, 30124333, 30158285, 30577709, 30693623, 31137694, 31549270, 31817109		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29319618		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	28941965, 32996901, 37017991	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	32100078	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatic Fever	Rheumatic fever	Pubtator	34474769	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	19737369, 27118427, 27400406		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic heart disease	Pubtator	34474769	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10203024, 10662875, 10674972, 11128657, 11318597, 11580858, 11752507, 11916172, 12455815, 14505215, 15022315, 15546339, 15833145, 15841095, 16025348, 16133179, 16380915, 17666451, 18462498, 18718877, 19066215, 19300490, 19333938, 19359276, 19404967, 19503088, 20113255, 20138855, 20498205, 21503616, 21784728, 22354566, 22354915, 23264071, 23448385, 23549103, 23661460, 23703660, 24498648, 24891289, 25128482, 25542810, 26062995, 26177310, 27808571, 27988812, 28199343, 28477078, 28581446, 28742141, 30413189, 30724348, 31067348, 9459504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	14505215, 15841095, 16380915, 16641053, 18462498, 19036923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	20453842, 23143596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhinitis Allergic	Rhinitis	Pubtator	23663310, 27917628	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	25111463		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	35075176, 35761164, 36613701, 37863732	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	28007774		★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	35628499	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	23900675, 34736521	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12007590, 18848621, 23666060, 25998553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	12007590, 18848621, 23666060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	39351328	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleritis	Scleritis	BEFREE	30921471		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	14705224		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	17459075	Associate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	31413527		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32499327	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
Sepsis	Sepsis	Pubtator	30310101	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	31484735	Stimulate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28056053, 28742984, 29393983, 30310101, 30634576		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	28185879		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	22951729	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary Syndrome	ORPHANET_DG	26258847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	Sezary Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	30638415	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	31001501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	12528117, 16869018, 17341301, 29992636, 33603736	Associate	★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	19622768, 30045105		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	19622768	Inhibit	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	19622768	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	18455243, 29318609, 29593891, 30637710, 31525648		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	36879122, 40362483	Associate	★☆☆☆☆ Found in Text Mining only
Small vessel vasculitis	Small vessel vasculitis	BEFREE	19815671, 30446009		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	30413189		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	16180249, 26261646, 40389847	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	17825114, 22249287		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16393254, 19622768, 28460468, 28707078, 29249121, 31010080		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17341658		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28337964, 29892809, 31485274, 31551657		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27777979, 28574843, 31894857, 32281488, 32304268, 32785290, 33010009, 33072070, 33513276, 33869632, 33995377, 34657509, 34737735, 35281069, 35794182, 35830713, 36529525, 36535565, 37415208, 37697421, 37798374, 38025757, 39549431	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35920349	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36983005	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	27683114, 28724602		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31833606		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27683114, 28383639, 28464441, 29238207, 29712685, 29955905, 30275274, 30846179, 31533840, 31804466		★☆☆☆☆ Found in Text Mining only
Stage IV Skin Melanoma	Skin Melanoma	BEFREE	23222297, 25922203, 31317218, 31653633		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19688278, 25267951, 26644313, 29374027, 30138920, 31767616		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25267951, 27741514, 29729943, 30018250, 30250467, 35241494, 35627105, 36002752, 36680216, 36761750, 37036489, 38025711, 38307189	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37153541	Stimulate	★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	29979892		★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	31001501		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	31001501		★☆☆☆☆ Found in Text Mining only
Systemic lupus erythematosus	Systemic lupus erythematosus	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Systemic Scleroderma	Scleroderma	BEFREE	12508774, 14705224, 16189655, 16775619, 17459075, 22173230, 29365321, 30053831		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	LHGDN	12508774, 14705224, 16775619, 17225925, 17459075		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	24892807, 26108796, 26819049		★☆☆☆☆ Found in Text Mining only
Teratoma Ovarian	Ovarian teratoma	Pubtator	30412106	Associate	★☆☆☆☆ Found in Text Mining only
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	BEFREE	20643858		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	10713366, 16178018, 24373506, 25003519, 29682176, 9688341		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	LHGDN	16178018		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	11041456, 12534352, 15507878, 16893393, 16916658, 17048303, 18296657, 18493148, 19037649, 19524188, 19734241, 25653477, 29847667, 30334140, 31684013		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	LHGDN	16893393		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30078171, 30123257		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	11704287, 15657618, 17504905, 18493148, 18752454, 20134044, 21866398, 23597501, 24697361, 29043574, 29079654, 30078171, 30242549, 30485936		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	LHGDN	12202150, 12914522, 14986169, 16352685, 18752454		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	30485936, 31518074	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	29250672		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	29250672	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	17459075	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	20134044, 29079654		★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	15928253, 16040335, 16325273, 17334650, 18485327, 18559906, 19141582, 19506323, 19672595, 20408864, 21147625, 22466347, 27111218, 28922436, 29250672	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	BEFREE	31533840		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28947417, 29255938, 29258739, 29371976, 29721371, 29878901		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34659224, 37671167, 39780116	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	31437431		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	30508004		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	12465728, 15973119, 16015687, 16509873, 16670525, 17465502, 19089435, 20445568, 21091900, 24374044, 24530750, 26379408, 30213296, 31442916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	LHGDN	16015687		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	11555351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	11555351, 21040781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24014088, 29312460, 33335608, 33356494, 33507988, 34539008, 34793662, 35209909, 36275893, 38071230, 40367012	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	29217732, 29407369		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	23597501		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22094905, 31198791, 35435763, 37042849, 40284896	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	28508938, 28640512, 30631354, 30699934, 31722735		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33072070	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	31669406		★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	19180256	Associate	★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	18282809		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	LHGDN	18282809		★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van der woude syndrome	Pubtator	28601686	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	21159637, 29044999		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	19951419, 24356554, 36797040	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Vasculitis	BEFREE	29923081, 30446009		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Vasculitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis of large artery	Vasculitis	BEFREE	29923081		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	32499327	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	19780033		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	10215771, 19129082, 27192950, 29199612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	LHGDN	18200060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	29974998	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	33932254, 36163113	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	10215771, 19129082, 27192950, 29199612		★☆☆☆☆ Found in Text Mining only