THBD (thrombomodulin)

Gene

• Entrez ID: 7056
• Gene name: Thrombomodulin
• Gene symbol: THBD
• Synonyms (NCBI Gene): AHUS6, BDCA-3, BDCA3, CD141, THPH12, THRM, TM
• Chromosome: 20
• Chromosome location: 20p11.21
• Summary: The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin gener

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800576	C>T	Conflicting-interpretations-of-pathogenicity, risk-factor, likely-benign	Missense variant, coding sequence variant
rs1800578	G>A,T	Risk-factor, likely-benign	Missense variant, coding sequence variant
rs1800579	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs16984852	C>A	Pathogenic	5 prime UTR variant
rs121918667	T>C	Risk-factor	Coding sequence variant, missense variant
rs398122807	C>A	Pathogenic	Coding sequence variant, missense variant
rs1347587434	G>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1600409143	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1600409323	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1600410451	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017044	hsa-miR-335-5p	Microarray	18185580
MIRT024294	hsa-miR-215-5p	Microarray	19074876
MIRT026159	hsa-miR-192-5p	Microarray	19074876
MIRT636182	hsa-miR-4436b-3p	HITS-CLIP	23824327
MIRT636181	hsa-miR-4632-5p	HITS-CLIP	23824327
MIRT636180	hsa-miR-6735-5p	HITS-CLIP	23824327
MIRT636178	hsa-miR-6879-5p	HITS-CLIP	23824327
MIRT636179	hsa-miR-7843-5p	HITS-CLIP	23824327
MIRT636177	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT636176	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT639318	hsa-miR-578	HITS-CLIP	23824327
MIRT636182	hsa-miR-4436b-3p	HITS-CLIP	23824327
MIRT636181	hsa-miR-4632-5p	HITS-CLIP	23824327
MIRT636180	hsa-miR-6735-5p	HITS-CLIP	23824327
MIRT636178	hsa-miR-6879-5p	HITS-CLIP	23824327
MIRT636179	hsa-miR-7843-5p	HITS-CLIP	23824327
MIRT639322	hsa-miR-6132	HITS-CLIP	23824327
MIRT639321	hsa-miR-6836-5p	HITS-CLIP	23824327
MIRT636177	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT639320	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT639319	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT636176	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT639318	hsa-miR-578	HITS-CLIP	23824327
MIRT636182	hsa-miR-4436b-3p	HITS-CLIP	23824327
MIRT636181	hsa-miR-4632-5p	HITS-CLIP	23824327
MIRT636180	hsa-miR-6735-5p	HITS-CLIP	23824327
MIRT636178	hsa-miR-6879-5p	HITS-CLIP	23824327
MIRT636179	hsa-miR-7843-5p	HITS-CLIP	23824327
MIRT636177	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT636176	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT636182	hsa-miR-4436b-3p	HITS-CLIP	23824327
MIRT636181	hsa-miR-4632-5p	HITS-CLIP	23824327
MIRT636180	hsa-miR-6735-5p	HITS-CLIP	23824327
MIRT636178	hsa-miR-6879-5p	HITS-CLIP	23824327
MIRT636179	hsa-miR-7843-5p	HITS-CLIP	23824327
MIRT636177	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT636176	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT639318	hsa-miR-578	HITS-CLIP	23824327
MIRT636182	hsa-miR-4436b-3p	HITS-CLIP	23824327
MIRT636181	hsa-miR-4632-5p	HITS-CLIP	23824327
MIRT636180	hsa-miR-6735-5p	HITS-CLIP	23824327
MIRT636178	hsa-miR-6879-5p	HITS-CLIP	23824327
MIRT636179	hsa-miR-7843-5p	HITS-CLIP	23824327
MIRT639322	hsa-miR-6132	HITS-CLIP	23824327
MIRT639321	hsa-miR-6836-5p	HITS-CLIP	23824327
MIRT636177	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT639320	hsa-miR-1207-5p	HITS-CLIP	23824327
MIRT639319	hsa-miR-4763-3p	HITS-CLIP	23824327
MIRT636176	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT639318	hsa-miR-578	HITS-CLIP	23824327
MIRT636182	hsa-miR-4436b-3p	HITS-CLIP	23824327
MIRT636181	hsa-miR-4632-5p	HITS-CLIP	23824327
MIRT636180	hsa-miR-6735-5p	HITS-CLIP	23824327
MIRT636178	hsa-miR-6879-5p	HITS-CLIP	23824327
MIRT636179	hsa-miR-7843-5p	HITS-CLIP	23824327
MIRT636177	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT636176	hsa-miR-3127-5p	HITS-CLIP	23824327
MIRT1422762	hsa-miR-1182	CLIP-seq
MIRT1422763	hsa-miR-1193	CLIP-seq
MIRT1422764	hsa-miR-1202	CLIP-seq
MIRT1422765	hsa-miR-1208	CLIP-seq
MIRT1422766	hsa-miR-1243	CLIP-seq
MIRT1422767	hsa-miR-1275	CLIP-seq
MIRT1422768	hsa-miR-1298	CLIP-seq
MIRT1422769	hsa-miR-1323	CLIP-seq
MIRT1422770	hsa-miR-18a	CLIP-seq
MIRT1422771	hsa-miR-18b	CLIP-seq
MIRT1422772	hsa-miR-193a-5p	CLIP-seq
MIRT1422773	hsa-miR-19a	CLIP-seq
MIRT1422774	hsa-miR-19b	CLIP-seq
MIRT1422775	hsa-miR-2053	CLIP-seq
MIRT1422776	hsa-miR-21	CLIP-seq
MIRT1422777	hsa-miR-3065-5p	CLIP-seq
MIRT1422778	hsa-miR-3120-3p	CLIP-seq
MIRT1422779	hsa-miR-3155	CLIP-seq
MIRT1422780	hsa-miR-3155b	CLIP-seq
MIRT1422781	hsa-miR-3167	CLIP-seq
MIRT1422782	hsa-miR-3194-5p	CLIP-seq
MIRT1422783	hsa-miR-320a	CLIP-seq
MIRT1422784	hsa-miR-320b	CLIP-seq
MIRT1422785	hsa-miR-320c	CLIP-seq
MIRT1422786	hsa-miR-320d	CLIP-seq
MIRT1422787	hsa-miR-320e	CLIP-seq
MIRT1422788	hsa-miR-342-5p	CLIP-seq
MIRT1422789	hsa-miR-3545-3p	CLIP-seq
MIRT1422790	hsa-miR-365	CLIP-seq
MIRT1422791	hsa-miR-3653	CLIP-seq
MIRT1422792	hsa-miR-3654	CLIP-seq
MIRT1422793	hsa-miR-3681	CLIP-seq
MIRT1422794	hsa-miR-384	CLIP-seq
MIRT1422795	hsa-miR-3925-3p	CLIP-seq
MIRT1422796	hsa-miR-3972	CLIP-seq
MIRT1422797	hsa-miR-4267	CLIP-seq
MIRT1422798	hsa-miR-4275	CLIP-seq
MIRT1422799	hsa-miR-4284	CLIP-seq
MIRT1422800	hsa-miR-4317	CLIP-seq
MIRT1422801	hsa-miR-4429	CLIP-seq
MIRT1422802	hsa-miR-4466	CLIP-seq
MIRT1422803	hsa-miR-452	CLIP-seq
MIRT1422804	hsa-miR-4651	CLIP-seq
MIRT1422805	hsa-miR-4659a-5p	CLIP-seq
MIRT1422806	hsa-miR-4659b-5p	CLIP-seq
MIRT1422807	hsa-miR-4664-5p	CLIP-seq
MIRT1422808	hsa-miR-4665-5p	CLIP-seq
MIRT1422809	hsa-miR-4676-3p	CLIP-seq
MIRT1422810	hsa-miR-4699-5p	CLIP-seq
MIRT1422811	hsa-miR-4706	CLIP-seq
MIRT1422812	hsa-miR-4711-3p	CLIP-seq
MIRT1422813	hsa-miR-4728-5p	CLIP-seq
MIRT1422814	hsa-miR-4731-5p	CLIP-seq
MIRT1422815	hsa-miR-4735-3p	CLIP-seq
MIRT1422816	hsa-miR-4749-5p	CLIP-seq
MIRT1422817	hsa-miR-4766-3p	CLIP-seq
MIRT1422818	hsa-miR-4776-3p	CLIP-seq
MIRT1422819	hsa-miR-4796-3p	CLIP-seq
MIRT1422820	hsa-miR-484	CLIP-seq
MIRT1422821	hsa-miR-515-5p	CLIP-seq
MIRT1422822	hsa-miR-518a-5p	CLIP-seq
MIRT1422823	hsa-miR-520d-5p	CLIP-seq
MIRT1422824	hsa-miR-520g	CLIP-seq
MIRT1422825	hsa-miR-520h	CLIP-seq
MIRT1422826	hsa-miR-524-5p	CLIP-seq
MIRT1422827	hsa-miR-527	CLIP-seq
MIRT1422828	hsa-miR-548o	CLIP-seq
MIRT1422829	hsa-miR-548p	CLIP-seq
MIRT1422830	hsa-miR-552	CLIP-seq
MIRT1422831	hsa-miR-590-5p	CLIP-seq
MIRT1422832	hsa-miR-608	CLIP-seq
MIRT1422833	hsa-miR-622	CLIP-seq
MIRT1422834	hsa-miR-637	CLIP-seq
MIRT1422835	hsa-miR-675	CLIP-seq
MIRT1422836	hsa-miR-744	CLIP-seq
MIRT1422837	hsa-miR-766	CLIP-seq
MIRT1422838	hsa-miR-876-5p	CLIP-seq
MIRT1422839	hsa-miR-9	CLIP-seq
MIRT1422840	hsa-miR-942	CLIP-seq
MIRT1422800	hsa-miR-4317	CLIP-seq
MIRT1422805	hsa-miR-4659a-5p	CLIP-seq
MIRT1422806	hsa-miR-4659b-5p	CLIP-seq
MIRT1920970	hsa-miR-4670-3p	CLIP-seq
MIRT1920971	hsa-miR-4731-3p	CLIP-seq
MIRT1422818	hsa-miR-4776-3p	CLIP-seq
MIRT1920972	hsa-miR-4801	CLIP-seq
MIRT1422800	hsa-miR-4317	CLIP-seq
MIRT1422805	hsa-miR-4659a-5p	CLIP-seq
MIRT1422806	hsa-miR-4659b-5p	CLIP-seq
MIRT1920970	hsa-miR-4670-3p	CLIP-seq
MIRT1920971	hsa-miR-4731-3p	CLIP-seq
MIRT1422818	hsa-miR-4776-3p	CLIP-seq
MIRT1920972	hsa-miR-4801	CLIP-seq
MIRT1920970	hsa-miR-4670-3p	CLIP-seq
MIRT1920971	hsa-miR-4731-3p	CLIP-seq
MIRT1920972	hsa-miR-4801	CLIP-seq
MIRT1422762	hsa-miR-1182	CLIP-seq
MIRT1422790	hsa-miR-365	CLIP-seq
MIRT1422813	hsa-miR-4728-5p	CLIP-seq
MIRT1422821	hsa-miR-515-5p	CLIP-seq
MIRT2348622	hsa-miR-3166	CLIP-seq
MIRT2348623	hsa-miR-3609	CLIP-seq
MIRT2348624	hsa-miR-4468	CLIP-seq
MIRT1422821	hsa-miR-515-5p	CLIP-seq
MIRT2348625	hsa-miR-548ah	CLIP-seq
MIRT2348626	hsa-miR-548t	CLIP-seq
MIRT1422840	hsa-miR-942	CLIP-seq
MIRT2395783	hsa-miR-4661-3p	CLIP-seq
MIRT2395784	hsa-miR-665	CLIP-seq
MIRT1422769	hsa-miR-1323	CLIP-seq
MIRT2641740	hsa-miR-4299	CLIP-seq
MIRT2641741	hsa-miR-4456	CLIP-seq
MIRT2641742	hsa-miR-4762-5p	CLIP-seq
MIRT1422817	hsa-miR-4766-3p	CLIP-seq
MIRT1422828	hsa-miR-548o	CLIP-seq
MIRT1422829	hsa-miR-548p	CLIP-seq
MIRT2641743	hsa-miR-548q	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EP300	Repression	15677570
KLF2	Activation	19661484
KLF4	Activation	19661484
NFKB1	Repression	17211835;22406829
PARP1	Activation	21489980
PARP1	Repression	21489980
RARA	Activation	9269772
RARA	Unknown	11036068
RARB	Unknown	11036068
RARG	Unknown	11036068
RELA	Repression	17211835;22406829
RXRA	Unknown	11036068
SP1	Activation	22406829
SP1	Unknown	11036068

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	TAS	10336638
GO:0005515	Function	Protein binding	IPI	14691232, 17379830, 32296183
GO:0005615	Component	Extracellular space	IEA
GO:0005774	Component	Vacuolar membrane	IEA
GO:0005886	Component	Plasma membrane	IDA	17379830
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2822087
GO:0006508	Process	Proteolysis	NAS	12524220
GO:0007565	Process	Female pregnancy	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS	9252393
GO:0007599	Process	Hemostasis	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IDA	17379830
GO:0009986	Component	Cell surface	IEA
GO:0010165	Process	Response to X-ray	IEA
GO:0010544	Process	Negative regulation of platelet activation	TAS	17379830
GO:0016020	Component	Membrane	IEA
GO:0016327	Component	Apicolateral plasma membrane	IEA
GO:0030195	Process	Negative regulation of blood coagulation	IDA	10761923
GO:0030195	Process	Negative regulation of blood coagulation	IDA	10761923
GO:0030195	Process	Negative regulation of blood coagulation	NAS	12524220
GO:0030195	Process	Negative regulation of blood coagulation	TAS	15005336
GO:0030195	Process	Negative regulation of blood coagulation	TAS	17379830
GO:0031638	Process	Zymogen activation	NAS	12524220
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0038023	Function	Signaling receptor activity	IDA	10761923
GO:0038023	Function	Signaling receptor activity	TAS	2822087
GO:0050819	Process	Negative regulation of coagulation	IEA
GO:0051591	Process	Response to cAMP	IEA
GO:0051918	Process	Negative regulation of fibrinolysis	TAS	17379830
GO:0072377	Process	Blood coagulation, common pathway	NAS	12524220
GO:1905370	Component	Serine-type endopeptidase complex	IPI	14691232

Other IDs

• MIM: 188040
• HGNC: 11784
• e!Ensembl: ENSG00000178726

Protein

• UniProt ID: P07204
• Protein name: Thrombomodulin (TM) (Fetomodulin) (CD antigen CD141)
• Protein function: Endothelial cell receptor that plays a critical role in regulating several physiological processes including hemostasis, coagulation, fibrinolysis, inflammation, and angiogenesis (PubMed:10761923). Acts as a cofactor for thrombin activation of p
• PDB: 1ADX, 1DQB, 1DX5, 1EGT, 1FGD, 1FGE, 1HLT, 1TMR, 1ZAQ, 2ADX, 3GIS, 5TO3, 7T4R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00059	Lectin_C	41 → 169	Lectin C-type domain	Domain
  PF14670	FXa_inhibition	245 → 280		Domain
  PF12662	cEGF	305 → 328	Complement Clr-like EGF-like	Domain

• Tissue specificity: TISSUE SPECIFICITY: Endothelial cells are unique in synthesizing thrombomodulin.
• Sequence:

  MLGVLVLGALALAGLGFPAPAEPQPGGSQCVEHDCFALYPGPATFLNASQICDGLRGHLM
  TVRSSVAADVISLLLNGDGGVGRRRLWIGLQLPPGCGDPKRLGPLRGFQWVTGDNNTSYS
  RWARLDLNGAPLCGPLCVAVSAAEATVPSEPIWEEQQCEVKADGFLCEFHFPATCRPLAV
  EPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPLGLQLMCTAPPGAVQGHWAREAP
  GAWDCSVENGGCEHACNAIPGAPRCQCPAGAALQADGRSCTASATQSCNDLCEHFCVPNP
  DQPGSYSCMCETGYRLAADQHRCEDVDDCILEPSPCPQRCVNTQGGFECHCYPNYDLVDG
  ECVEPVDPCFRANCEYQCQPLNQTSYLCVCAEGFAPIPHEPHRCQMFCNQTACPADCDPN
  TQASCECPEGYILDDGFICTDIDECENGGFCSGVCHNLPGTFECICGPDSALARHIGTDC
  DSGKVDGGDSGSGEPPPSPTPGSTLTPPAVGLVHSGLLIGISIASLCLVVALLALLCHLR
  KKQGAARAKMEYKCAAPSKEVVLQHVRTERTPQRL

• Sequence length: 575

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
Abnormal bleeding	Likely pathogenic	rs1600409143, rs1600409323	RCV000852043 RCV000851928	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Likely pathogenic	rs1600409143	RCV001270487	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombomodulin-related bleeding disorder	Pathogenic; Likely pathogenic	rs2122673257, rs1600409143, rs1600409323	RCV000013552 RCV005864529 RCV005864527	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal thrombosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME WITH COMPLEMENT GENE ABNORMALITY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar ClinGen	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CAROTID ARTERY THROMBOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSEMINATED INTRAVASCULAR COAGULATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THBD-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	31425204		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	15183044, 29887328		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	15183044, 16307806		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27605400		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	1709310		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	16206674		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	7878635, 7949172, 8555488, 9269772		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	11696172, 11972864		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	29592796		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	22052675	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	22052675, 25596272		★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	18035074	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	29047360		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	29895622		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	25993293	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	10957660, 26338301, 28473982, 28525804		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	7858265		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	10627464	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21840881, 21885846, 28651248, 29783997		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	16879225, 22449172, 27311356, 30518680		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	34691053	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	32849606	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	32849606	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	1660324, 29867920, 37298499	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24009678, 25497974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	11549570	Inhibit	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	11864703, 12862205		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	1316788, 15009462, 16126727, 17895503, 27910925, 35855629	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21840881, 21885846, 28651248		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28397441, 29364003, 29547930, 31140290		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	29364003	Inhibit	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	19625716, 20613506, 22410797, 23743117, 24118826, 25135378, 29940557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	CTD_human_DG	19625716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	22410797, 35619721, 36755127	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic uremic syndrome with complement gene abnormality	Hemolytic Uremic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	31014550	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	LHGDN	12918732		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	36226612	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	9694049		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	31356193		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24886404		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	11084048, 21489300, 25049278, 25564403, 27436851, 27793368, 27910925, 28406995, 30764845, 31793409, 32634856, 33683204, 35033854, 37753073	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	15591227	Inhibit	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	25049278, 27841821, 28963294, 29222696, 30086072, 30597500, 30764845, 31104069, 31416465, 31536747, 31689983, 31793409		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	28267383		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	18204921		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29459177		★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	LHGDN	17875054		★☆☆☆☆ Found in Text Mining only
Buruli Ulcer	Buruli ulcer	Pubtator	26181660	Associate	★☆☆☆☆ Found in Text Mining only
C3 glomerulopathy	C3 Glomerulopathy	BEFREE	26895476		★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	27876311		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20345486	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22406829, 9234185		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11570577	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	11953822	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24886404		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20607726, 27223053, 28121350, 29851300		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23918310	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17965528, 21623236, 7717460, 8163684	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29851300	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	8163684		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23889749, 23918310		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	15869594, 17677000, 34236150, 35075098, 35854198	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	16456088, 17677000, 25543320, 26226255, 27910925, 31416465		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	11257274		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	16134058, 29337048		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	15574195, 27079234, 30665239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	15574195, 30383853, 39631512	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	11257274, 12871287, 15574195, 16960091, 18204921, 26159646		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	10971021		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23881386		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	23881386		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29668990, 29682152		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	27421039, 31536747		★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	23341914	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	39631512	Inhibit	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	27553758	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	23388545	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27512995		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16622452, 23209692, 27512995, 32531444	Associate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement component deficiency	Pubtator	29592796, 35619721	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	Pubtator	36646026	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	CTD_human_DG	7740478		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	30058709		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11078228, 11245641, 11257274, 14523329, 15488871, 15837080, 22880619, 25108690, 25144670, 29668990, 30116341, 30143885, 8392391		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	11078228, 11245641, 11257274, 14523329, 15488871, 15837080, 22880619, 25108690, 25144670, 29668990, 30116341, 30143885		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	11549570	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	35075098	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11078228, 11245641, 11257274, 14523329, 15488871, 15837080, 22880619, 25108690, 25144670, 29668990, 30116341, 30143885		★☆☆☆☆ Found in Text Mining only
Coronary Thrombosis	Coronary thrombosis	Pubtator	11549570	Associate	★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	33141764	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	22802339	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23950992		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	23950992	Inhibit	★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	12135317	Associate	★☆☆☆☆ Found in Text Mining only
Cystathionine beta-Synthase Deficiency Disease	Cystathionine Beta-Synthase Deficiency Disease	BEFREE	7701480		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	16507317, 23080367		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	22547651		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	31061324	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	15869594, 17895503, 22734102	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21871056	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22734102		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31783601		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	9326350	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17982464		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	17982464		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	LHGDN	12031986		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	10331507, 21489300, 29257196, 29851300, 3025256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	23604713, 23954259, 27467205, 27734584, 28176226, 28229162, 28271063, 29098447, 29153952, 29316171, 29471674, 29511940, 29699063, 29783997, 29851300, 30067306, 30208259, 30227394, 30296304, 30296833, 30383650, 30472436, 30486666, 30780007, 31090683, 31092417, 31096113, 31416465, 31626125, 31627216, 31764622, 7949172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	CTD_human_DG	9134660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysfibrinogenemia	Dysfibrinogenemia	BEFREE	10938925		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	12628278		★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	30067306		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	40332167	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23889749, 23918310		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	16390543	Associate	★☆☆☆☆ Found in Text Mining only
Familial Thrombotic Thrombocytopenic Purpura	Thrombotic thrombocytopenic purpura	CTD_human_DG	7740478		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28737512		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	36773096	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	29982644		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	22689672, 31300420	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	22547651, 25225421, 26246110, 28167153, 28827518, 31243040		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	29850964		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	14987915		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30008974	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	1709310, 8207015		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	26246110, 27734584, 30472436		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	28414089		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	10331507, 19625716	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	10331507, 21642543, 25694534		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	LHGDN	12920633		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	22533488		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	23889493	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	22533488		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	25564403, 27436851, 31793409, 32634856, 34628704	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Veno Occlusive Disease	Hepatic veno occlusive disease	Pubtator	21330458	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Veno-Occlusive Disease	Hepatic veno-occlusive disease-immunodeficiency syndrome	BEFREE	27427915, 30127466, 30348695		★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	36646026	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	22711645	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	16861286		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	Pubtator	1661291	Associate	★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	7701480		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	23199546, 28379034		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	8378967		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	28379034		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22734102	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	10666169	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22734102, 26891741, 28289017, 29575096, 9708474		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	17895503	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	15135268		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30518680	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35033854	Inhibit	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	31356193		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27564658		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	31805421		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	29459177		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	22547651		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	15448005		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	20345486	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial thrombosis	Pubtator	23741007	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	11257274, 15574195, 26159646, 29337048, 30383853		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	15448005		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	28414089		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	17982464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	33069430	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	25135762		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	21873362	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28841902, 29608549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy	Leprosy	Pubtator	27706378	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22327096	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	31273091, 7949172, 9269772	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22327096	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23616009, 8555488	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	22327096	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	7949172	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28406995, 30383650, 8555488		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	17695537		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20625840		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27421039, 29063359, 31536747		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28121350, 29851300, 32655564	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	13130472	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	16178860	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	18991188		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17391312	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	31626125		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	29592796	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Hypertension	Malignant Hypertension	BEFREE	29940557		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	21489980, 26431916		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29459177		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20607726, 27223053, 28121350, 29851300		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	17695537		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23918310		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28094003		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22406829		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20345486		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24886404		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12871287, 15467763, 17695537, 17709273, 18000794, 20625840, 20713448, 21788337, 27512995, 28414089, 30764845, 31484340, 8163684		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23881386		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15714116, 24366193		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15714116		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15900300, 33737341	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24366193	Inhibit	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	11570906, 12194995, 16056246, 16554731	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	12194995, 1357974, 21489980	Associate	★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	17099210, 20051099, 29908636		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	1647551		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	1647551		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	30008974		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	30008974	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	15235749		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	31857644	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	31273091		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	31273091	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10627464, 11848462, 12135317, 14523329, 15488871, 15837080, 26888356, 9157575, 9198186, 9236408, 9843165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	10627464, 9843165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	10627464, 12135317, 18035074, 22734102	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	15574195, 8392391		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	15574195	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	15869594	Stimulate	★☆☆☆☆ Found in Text Mining only
Myxoma	Myxoma	LHGDN	11642722		★☆☆☆☆ Found in Text Mining only
Myxoma of heart	Myxoma Of Heart	BEFREE	11642722		★☆☆☆☆ Found in Text Mining only
Myxoma of the Endocardium	Myxoma Of The Endocardium	BEFREE	11642722		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	25469646		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	25469646	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30719121		★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	31190184		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	31190184		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11642722, 12548614, 15448005, 15714116, 15780553, 18000794, 20607726, 20713448, 21788337, 22547651, 24886404, 27223053, 27512995, 27602495, 28094003, 29562205		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	31132652		★☆☆☆☆ Found in Text Mining only
Neuropathy, Painful	Neuropathy	CTD_human_DG	27474498		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20607726, 28121350		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26891741, 29637447		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	27311356		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23918310		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32590296, 33571724	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28094003		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36272973, 8198971	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	27313201		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	7858265		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31666085		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31666085		★☆☆☆☆ Found in Text Mining only
PIK3CA related overgrowth spectrum	Overgrowth Spectrum	BEFREE	31490637		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	17899078		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22406829		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24633886, 32590296	Associate	★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	8163684		★☆☆☆☆ Found in Text Mining only
Proteus Syndrome	Proteus Syndrome	BEFREE	31490637		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27564658		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25775429	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28739343, 29212801		★☆☆☆☆ Found in Text Mining only
Pulmonary Thromboembolisms	Pulmonary thromboembolism	CTD_human_DG	7811989		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	CTD_human_DG	7740478		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	28229162		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	CTD_human_DG	12707536		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	23607598, 25643902, 27215212, 27976836, 28732053		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	27976836, 29596106		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22533488, 29867920		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sagittal Sinus Thrombosis	Sagittal Sinus Thrombosis	BEFREE	9364978		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	31356193		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	7507301	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31738890		★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	12905480, 8985465	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	10666169, 12905480	Associate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	27512995		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	3025256, 34190147	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	18579691, 22449172, 23669075, 28078348, 28587368, 28771554, 28841902, 28963294, 29098447, 29246581, 29596106, 30296833, 30597500, 30777333, 30920847, 31256946, 31416465, 31689983		★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	31676784		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29851300		★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	31212235		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	31356193		★☆☆☆☆ Found in Text Mining only
Spondylo-ocular syndrome	Spondyloocular Syndrome	BEFREE	27427915		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11972864, 20713448, 29851300, 8163684, 8600279, 9234185		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	10609562	Associate	★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	29047360		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	31356193		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20345486		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	20345486	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stroke	Stroke	Pubtator	15574195, 17895503, 31271700	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29257200		★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	31676784		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	31676784		★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	17577920	Associate	★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	7811989	Associate	★☆☆☆☆ Found in Text Mining only
Thrombomodulin-related bleeding disorder	Thrombomodulin-related bleeding disorder	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombophilia	Thrombophilia	BEFREE	10625205, 12139752, 1651567, 27421039, 27448294, 28049360, 29577605, 31096113, 31108555, 9198186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	CTD_human_DG	12139752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	Pubtator	23332921, 29577605, 32634856, 38309434	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia due to Thrombomodulin Defect	Thrombophilia	UNIPROT_DG	12139752, 7811989, 9198186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia due to Thrombomodulin Defect	Thrombophilia	GENOMICS_ENGLAND_DG	23307876, 25564403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia due to Thrombomodulin Defect	Thrombophilia	ORPHANET_DG	25049278, 25564403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia due to Thrombomodulin Defect	Thrombophilia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia due to Thrombomodulin Defect	Thrombophilia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	11549570, 11570577, 15574195, 16126727, 1661291, 17677000, 19133979, 21781252, 23332921, 23881386, 26181660, 29257196, 32384541, 34970867, 34981912, 35033854, 36226612	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	20116378, 29364003, 34693872	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	21873362	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	27427915, 28650448, 28752844		★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	31793409, 34628704	Associate	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	28505525		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33238953	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	30711015		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23881386	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	22001200, 23401649		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	11231927		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	11110700, 32382091, 9326350	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	16043642		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	23604713, 30008974		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	12871544	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	12871544, 15842356, 27081095, 28049360, 32781781, 33725974, 34970867	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	26888256	Inhibit	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	23332921, 28049360, 34142473, 34236150	Associate	★☆☆☆☆ Found in Text Mining only