SERPINC1 (serpin family C member 1)

Gene

• Entrez ID: 462
• Gene name: Serpin family C member 1
• Gene symbol: SERPINC1
• Synonyms (NCBI Gene): AT3, AT3D, ATIII, ATIII-R2, ATIII-T1, ATIII-T2, THPH7
• Chromosome: 1
• Chromosome location: 1q25.1
• Summary: The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2227624	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, coding sequence variant, missense variant
rs28929469	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121909547	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121909551	G>A	Pathogenic-likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs121909552	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs121909558	A>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121909560	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs121909561	TCCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs121909562	G>A	Pathogenic	Stop gained, coding sequence variant
rs121909563	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121909565	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909567	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121909569	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909570	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs121909571	T>C	Pathogenic	Missense variant, coding sequence variant
rs121909572	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909573	A>G	Pathogenic	Missense variant, coding sequence variant
rs387906575	A>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs542881762	C>G,T	Likely-pathogenic	Intron variant
rs786204063	AAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs863224495	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691435	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1460568494	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557904209	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1572086894	TTCATGCATCTCCTTTCTGTACCCTAAGAGAGTGGGGAAGGTGTACTCACCTCAAGAAATGCCTTATGGAATGCATCTGAGACATAGAGGTCATCTCGGCCTTCTGCAACAATACCTGGAAGGAAGACCGGAGAAGTCTTTGTGAGATGGGAGAAAGTTGGCTTC>-	Likely-pathogenic	Splice donor variant, intron variant, splice acceptor variant, coding sequence variant
rs1572088348	C>A	Likely-pathogenic	Intron variant
rs1572088775	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572088823	CTTCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572088837	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1572088853	C>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1572088865	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572090079	C>T	Pathogenic	Splice donor variant
rs1572090114	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1572090173	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572090305	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1572090368	CTTAAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1572091783	G>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1572091831	AAAATG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1572092076	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572092099	G>T	Pathogenic	Coding sequence variant, stop gained
rs1572092103	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572092195	C>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT653922	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT653921	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT653920	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT653919	hsa-miR-30a-5p	HITS-CLIP	23824327
MIRT653918	hsa-miR-30b-5p	HITS-CLIP	23824327
MIRT653917	hsa-miR-30c-5p	HITS-CLIP	23824327
MIRT653916	hsa-miR-30d-5p	HITS-CLIP	23824327
MIRT653915	hsa-miR-30e-5p	HITS-CLIP	23824327
MIRT653914	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT653913	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT653912	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT653910	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT653942	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT653941	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT653940	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT653939	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT653938	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT653937	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT653936	hsa-miR-4794	HITS-CLIP	23824327
MIRT653935	hsa-miR-664a-5p	HITS-CLIP	23824327
MIRT653934	hsa-miR-149-5p	HITS-CLIP	23824327
MIRT653933	hsa-miR-3064-5p	HITS-CLIP	23824327
MIRT653932	hsa-miR-6504-5p	HITS-CLIP	23824327
MIRT653931	hsa-miR-626	HITS-CLIP	23824327
MIRT653930	hsa-miR-6876-3p	HITS-CLIP	23824327
MIRT653929	hsa-miR-7974	HITS-CLIP	23824327
MIRT653928	hsa-miR-4687-3p	HITS-CLIP	23824327
MIRT653927	hsa-miR-3618	HITS-CLIP	23824327
MIRT653926	hsa-miR-934	HITS-CLIP	23824327
MIRT653925	hsa-miR-526b-5p	HITS-CLIP	23824327
MIRT653924	hsa-miR-578	HITS-CLIP	23824327
MIRT653923	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT653922	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT653921	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT653920	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT653919	hsa-miR-30a-5p	HITS-CLIP	23824327
MIRT653918	hsa-miR-30b-5p	HITS-CLIP	23824327
MIRT653917	hsa-miR-30c-5p	HITS-CLIP	23824327
MIRT653916	hsa-miR-30d-5p	HITS-CLIP	23824327
MIRT653915	hsa-miR-30e-5p	HITS-CLIP	23824327
MIRT653914	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT653913	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT653912	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT653910	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT653922	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT653921	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT653920	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT653919	hsa-miR-30a-5p	HITS-CLIP	23824327
MIRT653918	hsa-miR-30b-5p	HITS-CLIP	23824327
MIRT653917	hsa-miR-30c-5p	HITS-CLIP	23824327
MIRT653916	hsa-miR-30d-5p	HITS-CLIP	23824327
MIRT653915	hsa-miR-30e-5p	HITS-CLIP	23824327
MIRT653914	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT653913	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT653912	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT653910	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT653942	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT653941	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT653940	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT653939	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT653938	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT653937	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT653936	hsa-miR-4794	HITS-CLIP	23824327
MIRT653935	hsa-miR-664a-5p	HITS-CLIP	23824327
MIRT653934	hsa-miR-149-5p	HITS-CLIP	23824327
MIRT653933	hsa-miR-3064-5p	HITS-CLIP	23824327
MIRT653932	hsa-miR-6504-5p	HITS-CLIP	23824327
MIRT653931	hsa-miR-626	HITS-CLIP	23824327
MIRT653930	hsa-miR-6876-3p	HITS-CLIP	23824327
MIRT653929	hsa-miR-7974	HITS-CLIP	23824327
MIRT653928	hsa-miR-4687-3p	HITS-CLIP	23824327
MIRT653927	hsa-miR-3618	HITS-CLIP	23824327
MIRT653926	hsa-miR-934	HITS-CLIP	23824327
MIRT653925	hsa-miR-526b-5p	HITS-CLIP	23824327
MIRT653924	hsa-miR-578	HITS-CLIP	23824327
MIRT653923	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT653922	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT653921	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT653920	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT653919	hsa-miR-30a-5p	HITS-CLIP	23824327
MIRT653918	hsa-miR-30b-5p	HITS-CLIP	23824327
MIRT653917	hsa-miR-30c-5p	HITS-CLIP	23824327
MIRT653916	hsa-miR-30d-5p	HITS-CLIP	23824327
MIRT653915	hsa-miR-30e-5p	HITS-CLIP	23824327
MIRT653914	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT653913	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT653912	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT653910	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT755332	hsa-miR-200c-3p	Luciferase reporter assay, Western blotting, qRT-PCR, ELISA, in vivo gain/loss-of-function experiments	34783290

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Activation	8910619
FOXA1	Repression	8910619
FOXA2	Repression	8910619
HNF4A	Activation	8910619
NR2F1	Repression	8910619
RXRA	Activation	8910619
THRA	Repression	8910619

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	15853774
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	NAS	12878203
GO:0005515	Function	Protein binding	IPI	2013320, 12878203, 22582013, 28743742
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	1695900
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0030193	Process	Regulation of blood coagulation	IEA
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0042802	Function	Identical protein binding	IPI	18923394, 28743742
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 107300
• HGNC: 775
• e!Ensembl: ENSG00000117601

Protein

• UniProt ID: P01008
• Protein name: Antithrombin-III (ATIII) (Serpin C1)
• Protein function: Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade (PubMed:15140129, PubMed:15853774). AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa (PubMed:15140129). Its inhibit
• PDB: 1ANT, 1ATH, 1AZX, 1BR8, 1DZG, 1DZH, 1E03, 1E04, 1E05, 1JVQ, 1LK6, 1NQ9, 1OYH, 1R1L, 1SR5, 1T1F, 1TB6, 2ANT, 2B4X, 2B5T, 2BEH, 2GD4, 2HIJ, 2ZNH, 3EVJ, 3KCG, 4EB1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00079	Serpin	85 → 461	Serpin (serine protease inhibitor)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found in plasma.
• Sequence:

  MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEK
  KATEDEGSEQKIPEATNRRVWELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFA
  MTKLGACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKANKSSKLVSANRLFG
  DKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAINKWVSNKTEGRITDVIPSEAIN
  ELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYRRVAEGTQ
  VLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIEDG
  FSLKEQLQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTAV
  VIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRVANPCVK

• Sequence length: 464

Pathways

KEGG:

Complement and coagulation cascades

Reactome:

Intrinsic Pathway of Fibrin Clot Formation
Common Pathway of Fibrin Clot Formation
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation

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 thrombosis	Pathogenic	rs1487411568	RCV000852017	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coloboma of optic nerve	Pathogenic	rs2526582621	RCV006259483	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deep venous thrombosis	Pathogenic	rs2227624, rs121909567, rs1572092099	RCV000852240 RCV000851769 RCV000852038	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs1572090079	RCV005906946	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary antithrombin deficiency	Likely pathogenic; Pathogenic	rs2102782517, rs2102778910, rs483352856, rs483352854, rs2227606, rs2102782435, rs2102778641, rs2102778169, rs768704768, rs2102783199, rs1170430756, rs121909550, rs2102785788, rs1657743081, rs2102789590, rs121909558, rs2102773374, rs1468108124, rs1572088737, rs2102786101, rs1657908048, rs1572089542, rs786204063, rs2526542281, rs2526542785, rs2526612854, rs2526595268, rs863224495, rs199469504, rs2526594781, rs2526572347, rs2526594458, rs2526570301, rs2526559709, rs2526581062, rs2526543505, rs2526542341, rs2526594923, rs1301351856, rs2526559702, rs2526569822, rs2526570241, rs2526581512, rs2526582277, rs2526582621, rs2526612663, rs1658038847, rs2526596951, rs2526595697, rs2526559464, rs2526594003, rs121909546, rs121909547, rs121909548, rs121909549, rs121909551, rs2227624, rs121909552, rs121909554, rs121909555, rs121909557, rs28929469, rs1572088837, rs121909560, rs121909561, rs121909562, rs121909563, rs121909564, rs121909567, rs2102789885, rs2102784614, rs2102778876, rs121909569, rs387906575, rs121909570, rs121909571, rs121909572, rs121909573, rs2102773181, rs2102772927, rs2526571722, rs542881762, rs1487411568, rs1460568494, rs1572088775, rs1572088823, rs1572088853, rs1572090173, rs1572091783, rs1572091831, rs1572092076, rs1572092103, rs1572086894, rs1572088865, rs765445413, rs1572090305, rs1572090368, rs1572088348, rs1572090079, rs1449772752, rs1657909645, rs1657694750	RCV001377779 RCV001380042 RCV001857426 RCV002514538 RCV001523260 RCV001779986 RCV001779988 RCV001779989 RCV001801304 RCV001801312 RCV001801322 RCV001908898 RCV001951154 RCV001958585 RCV001984533 RCV002074468 RCV002074473 RCV002245317 RCV002245318 RCV002245320 RCV002245321 RCV002285196 RCV000167937 RCV002664191 RCV002648222 RCV002648224 RCV002572012 RCV000197842 RCV003126293 RCV003330339 RCV003330340 RCV003389113 RCV003447799 RCV003447801 RCV003484563 RCV003484574 RCV003484578 RCV003526964 RCV003527184 RCV003527185 RCV003527186 RCV003527187 RCV003527189 RCV003527190 RCV003527191 RCV003527192 RCV003527193 RCV003527194 RCV003638986 RCV003639540 RCV003638133 RCV003639154 RCV003877717 RCV003872232 RCV000019619 RCV000019620 RCV000019623 RCV000019625 RCV000019626 RCV000019627 RCV000019628 RCV000019630 RCV000019631 RCV000019632 RCV000019633 RCV000019635 RCV000019636 RCV000019637 RCV000019638 RCV000019642 RCV000019643 RCV000019644 RCV000019645 RCV000019646 RCV000019647 RCV000019650 RCV000019651 RCV000019652 RCV000019653 RCV000019655 RCV000019656 RCV000019657 RCV000019658 RCV000019659 RCV000019660 RCV000019661 RCV000019662 RCV004577660 RCV000456535 RCV003330321 RCV000851915 RCV000851895 RCV000851891 RCV000852207 RCV000852159 RCV000851776 RCV000852112 RCV000851716 RCV000852036 RCV000852262 RCV000799362 RCV000810125 RCV000819059 RCV000818759 RCV000799445 RCV000856668 RCV001070670 RCV001045955 RCV001231167 RCV001235412	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SERPINC1-related disorder	Likely pathogenic; Pathogenic	rs2227606, rs199469508, rs2526594866, rs2526595830, rs2526572412, rs121909552, rs765445413	RCV003956212 RCV003399991 RCV003400140 RCV003944099 RCV003959075 RCV004754265 RCV004754569	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thromboembolism	Pathogenic	rs2227624	RCV000852239	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tuberous sclerosis 2	Pathogenic; Likely pathogenic	rs483352856, rs483352854	RCV000087276 RCV000087290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGINA, UNSTABLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTITHROMBIN III DEFICIENCY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL THROMBOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOCEREBRAL TRAUMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEEP VEIN THROMBOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSEMINATED INTRAVASCULAR COAGULATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ANTITHROMBIN III DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL THROMBOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC SHOCK SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	BEFREE	28226363		★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	10414451, 12473703, 12571435, 15309526, 15609280, 20868443, 25771983, 8733870, 9065198, 9158617, 9372103, 9555645		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	CTD_human_DG	7923645		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28060110, 3472589		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	28222624		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28060110		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	8362984	Stimulate	★☆☆☆☆ Found in Text Mining only
Amyloid angiopathy	Amyloid angiopathy	Pubtator	8362984	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	8362984		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	23249216, 35822297	Associate	★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	28647870		★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin Deficiency	UNIPROT_DG	10997988, 11713457, 11794707, 12353073, 12595305, 12894857, 15164384, 1547341, 1555650, 16908819, 1906811, 2013320, 2229057, 2365065, 23910795, 2781509, 3080419, 3162733, 3179438, 3191114, 3805013, 6582486, 7734359, 7832187, 7878627, 7959685, 7981186, 7989582, 7994035, 8274732, 8443391, 8486379, 9031473, 9157604, 9759613, 9845533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antithrombin III Deficiency	Antithrombin deficiency	Pubtator	10997988, 12595305, 1469094, 1520874, 17244682, 17492649, 18480576, 20435622, 2066426, 23910795, 24824609, 25811371, 26748602, 27003919, 27279637, 28303970, 28317092, 2983542, 31554754, 3162535, 32252658, 34207366, 34324211, 34800304, 3512602, 35218943, 35486842, 35764313, 36343066, 36351615, 3663935, 36764659, 36902454, 37501065, 37670493, 37929439, 39423957, 40339963, 6582486, 7994035, 8274732, 9763552	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antithrombin III Deficiency	Antithrombin Deficiency	CLINVAR_DG	1469094, 16620552, 1873224, 21325262, 23910795, 24082793, 24162787, 24956267, 2615648, 26748602, 27322195, 2794060, 28300866, 28317092, 3080419, 31064749, 6582486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antithrombin III Deficiency	Antithrombin deficiency	Pubtator	1469094, 1868237, 32252658, 32422680, 37201530, 6305982, 9763552	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antithrombin III Deficiency	Antithrombin Deficiency	BEFREE	15338392, 16705712, 19760264, 20435622, 21885952, 22234719, 24162787, 24196373, 25083771, 25298121, 27003919, 27098529, 27214821, 27708219, 28229161, 28300866, 28317092, 28792912, 28861852, 30005274, 31030036, 31157679, 3116713, 3162535, 3663935		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antithrombin III Deficiency	Antithrombin Deficiency	ORPHANET_DG	24684277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antithrombin III Deficiency	Antithrombin Deficiency	CTD_human_DG	6435583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antithrombin III Deficiency	Antithrombin Deficiency	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antithrombin III Deficiency	Antithrombin Deficiency	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplastic Anemia	Aplastic anemia	BEFREE	7858265		★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	12010802	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	28300866		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28805957		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30896875		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	10606878, 17911195	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	23722320, 24349325, 25119470, 28174134, 30594242, 35062299, 37501065, 8652818	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	25811371, 8362984	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood Coagulation Disorders	CTD_human_DG	62897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Thrombosis	Cerebral Thrombosis	CTD_human_DG	6636041		★☆☆☆☆ Found in Text Mining only
Brain Thrombus	Cerebral Thrombus	CTD_human_DG	6636041		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	25474412	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	37839510	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	23276942	Associate	★☆☆☆☆ Found in Text Mining only
Budd-Chiari Syndrome	Budd-Chiari syndrome	BEFREE	11584361		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23031791	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26414287	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30114238		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	31718609	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29851300	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31718609		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	18480576	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23411630, 29112333	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	11279641, 23910795	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	1448834, 31173318		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	8443391	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Thrombosis	Cerebral Thrombosis	CTD_human_DG	6636041		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Thrombosis	Cerebral Thrombosis	BEFREE	7355006		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Thrombus	Cerebral Thrombus	CTD_human_DG	6636041		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28805957		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	28219627		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	3468376		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10867129, 28060110		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28767184		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28676822		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	3567355	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30542696	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	3179448	Associate	★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	Pubtator	33583911	Associate	★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1B	Congenital disorder of glycosylation	BEFREE	11350186		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	19067230		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	29207079	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	10440909, 29207079	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18176672		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	9031455		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	10440909	Associate	★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	19356951	Associate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	18349091, 18954896, 20824408, 23321260, 25083771, 25091233, 25811371, 26982741, 27279637, 30608445, 31030036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep Vein Thrombosis	Thrombosis	CLINVAR_DG	31064749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep Vein Thrombosis	Thrombosis	CTD_human_DG	55783, 6435583, 8810955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep Vein Thrombosis	Thrombosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	8877916		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12578864		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12578864		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	1520874	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24096133		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31560710		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	12010802, 18088351	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	22728069, 24782510, 31090683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	29851300	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	CTD_human_DG	6233579, 8810955, 9637888		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	BEFREE	2533642		★☆☆☆☆ Found in Text Mining only
Dysfibrinogenemia	Dysfibrinogenemia	BEFREE	12444311		★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	31009118		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	21489304	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	37572646	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31718609		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	1685742		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	3472589		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	30842085		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	30547763	Stimulate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	40225925	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	3567355	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29366986	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	26023895	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	11238089, 19563500, 26023895	Associate	★☆☆☆☆ Found in Text Mining only
Heparin Cofactor II Deficiency	Heparin cofactor 2 deficiency	Pubtator	1469094	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	BEFREE	11584361		★☆☆☆☆ Found in Text Mining only
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatic Veno-Occlusive Disease	Hepatic veno-occlusive disease-immunodeficiency syndrome	BEFREE	30676436		★☆☆☆☆ Found in Text Mining only
Hereditary Antithrombin Deficiency	Antithrombin Deficiency	BEFREE	24196373, 30721820, 8327986, 8470046		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Antithrombin Deficiency	Antithrombin Deficiency	CTD_human_DG	6435583		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary thrombophilia due to congenital antithrombin deficiency	Hereditary Thrombophilia	Orphanet			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	32235718	Associate	★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	3783325, 7893924		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	18612269	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	26748602	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	10997988, 20435622, 32252658, 33419227, 36268972	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	32252658	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	1676620, 28424376		★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	BEFREE	2455567		★☆☆☆☆ Found in Text Mining only
Hypoplasminogenemia	Hypoplasminogenemia	BEFREE	7665859, 8913958		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	30547763		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	25878173	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Thrombosis	Intracranial thrombosis	Pubtator	12595305, 36351615	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Thrombosis	Intracranial Thrombosis	CTD_human_DG	6636041		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intravascular hemolysis	Intravascular Hemolysis	BEFREE	12571435		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	1448834, 16644163, 2658206, 28441917		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28424376		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	26108065		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	25887069	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	26108065, 28219627, 28460592, 28719489, 31269838		★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	BEFREE	12208918		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10867129		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10867129, 16820872, 26414287, 28406940, 8562837		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28676822		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	28274560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure, Acute	Liver failure	CTD_human_DG	4089794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	8562837		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	37839510	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29851300	Associate	★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	10414451, 15821810, 16835215, 18160589, 19004141, 21561729, 22664050, 8052955, 8547095		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	10357988		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15934123	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	10357988		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10357988		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	10357988		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	18056677		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	18056677	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	16820872		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30114238		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17156576, 18056677, 3472589		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	2965928, 29681597, 7959685		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	25413266	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	29207079	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23762311	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	12888875, 31173318		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30896875		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30896875	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18056677, 29146698		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	CTD_human_DG	11304663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Hyperstimulation Syndrome	Ovarian hyperstimulation syndrome	Pubtator	11872195	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	7858265		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	18980758	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	19356951	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	11821270		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	11104298		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	28647870		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	28666312		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28060110		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	18056677		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12466122		★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	16330983, 2363123, 9158617		★☆☆☆☆ Found in Text Mining only
Protein S Deficiency	Protein S Deficiency	BEFREE	1535736, 23026651, 2679068, 2966450, 7607278, 8165635, 8291376		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	30547763	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	10954247, 25329998	Associate	★☆☆☆☆ Found in Text Mining only
Pyruvate Carboxylase Deficiency Disease	Pyruvate Carboxylase Deficiency Disease	BEFREE	15609280		★☆☆☆☆ Found in Text Mining only
Renal hypertension	Renal Hypertension	LHGDN	15338392		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	CTD_human_DG	8810955		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	8186352		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28632410		★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	BEFREE	31833198		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	8877916		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29249827		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	29249827	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	29249827	Stimulate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27993201, 28655573, 30589495		★☆☆☆☆ Found in Text Mining only
SMALL PATELLA SYNDROME	SMALL PATELLA SYNDROME	BEFREE	15609280		★☆☆☆☆ Found in Text Mining only
Spondylo-ocular syndrome	Spondyloocular Syndrome	BEFREE	30676436		★☆☆☆☆ Found in Text Mining only
Stiff-Person Syndrome	Stiff-Person Syndrome	BEFREE	15609280		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	23910795, 34979665	Associate	★☆☆☆☆ Found in Text Mining only
Superficial Thrombophlebitis	Superficial Thrombophlebitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	BEFREE	9576081		★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	1541698, 1868237, 20824408, 25119470, 28607330, 29366986, 32252658, 37501065, 6305982, 7989582, 9763552	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombophilia	Thrombophilia	BEFREE	11292195, 12551828, 12654376, 1535736, 16154434, 16330983, 23026651, 23358198, 27855570, 29206934, 7855783, 9207293, 9271815		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	16607693, 19558686, 19903694, 23406614, 23411429, 27855570, 28075532, 29747524, 30637129, 35486842, 38309434	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	37501065	Inhibit	★☆☆☆☆ Found in Text Mining only
Thrombophilia hereditary	Thrombophilia	Pubtator	28075532, 34207366, 36902454, 9746774	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia, hereditary	Thrombophilia	BEFREE	24162564		★☆☆☆☆ Found in Text Mining only
Thrombophlebitis	Thrombophlebitis	Pubtator	6582486	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	10072118, 10954247, 12591924, 12595305, 15140129, 1536946, 17244682, 18612269, 22498748, 22716977, 23910795, 24758255, 24824609, 25811371, 26748602, 27003919, 27279637, 2776881, 2983542, 3162535, 3162733, 32422680, 32457982, 33419227, 35486842, 36764659, 4199363, 8443391, 9746774, 9763552	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis of cerebral veins	Thrombosis	BEFREE	7355006		★☆☆☆☆ Found in Text Mining only
Thrombosis of cerebral veins	Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33120861	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	12239149, 1469094, 22581447, 22812604, 23150947, 25341889, 32457982, 34653293, 35112923, 36268972, 36764659, 39675565, 40339963	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thrombosis	Venous thrombosis	Pubtator	11279641, 15140129, 17244682, 18349091, 1906811, 19139080, 23910795, 25811371, 26982741, 27279637, 30608445, 34324211, 7742536, 9746774	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	35831174	Associate	★☆☆☆☆ Found in Text Mining only