F12 (coagulation factor XII)

Gene

• Entrez ID: 2161
• Gene name: Coagulation factor XII
• Gene symbol: F12
• Synonyms (NCBI Gene): HAE3, HAEX, HAF
• Chromosome: 5
• Chromosome location: 5q35.3
• Summary: This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1988659	hsa-miR-4297	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Activation	9794469

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002353	Process	Plasma kallikrein-kinin cascade	IDA	6793628, 18725990
GO:0002542	Process	Factor XII activation	IDA	18725990
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	6793628, 18725990
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	8710908, 12011093, 17645545, 21304106, 32814053, 35817195
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	6793628
GO:0005615	Component	Extracellular space	IEA
GO:0005791	Component	Rough endoplasmic reticulum	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0007596	Process	Blood coagulation	IBA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007597	Process	Blood coagulation, intrinsic pathway	IC	18725990
GO:0007599	Process	Hemostasis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0010756	Process	Positive regulation of plasminogen activation	IDA	89876
GO:0016485	Process	Protein processing	IDA	18725990
GO:0016540	Process	Protein autoprocessing	IDA	18725990
GO:0016787	Function	Hydrolase activity	IEA
GO:0030194	Process	Positive regulation of blood coagulation	IDA	6793628
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0031638	Process	Zymogen activation	IBA
GO:0031638	Process	Zymogen activation	IDA	89876, 6793628, 18725990
GO:0042730	Process	Fibrinolysis	IEA
GO:0045087	Process	Innate immune response	TAS	2510163
GO:0051787	Function	Misfolded protein binding	IC	18725990
GO:0051788	Process	Response to misfolded protein	IDA	18725990
GO:0051919	Process	Positive regulation of fibrinolysis	IDA	89876
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 610619
• HGNC: 3530
• e!Ensembl: ENSG00000131187

Protein

• UniProt ID: P00748
• Protein name: Coagulation factor XII (EC 3.4.21.38) (Hageman factor) (HAF) [Cleaved into: Coagulation factor XIIa heavy chain; Beta-factor XIIa part 1; Coagulation factor XIIa light chain (Beta-factor XIIa part 2)]
• Protein function: Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII
• PDB: 4BDW, 4BDX, 4XDE, 4XE4, 6B74, 6B77, 6GT6, 6L63, 6QF7, 6SZW, 6X0S, 6X0T, 7FBP, 7PRJ, 7PRK, 8OS5, 8R8D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00040	fn2	47 → 88	Fibronectin type II domain	Domain
  PF00008	EGF	98 → 129	EGF-like domain	Domain
  PF00039	fn1	135 → 170	Fibronectin type I domain	Domain
  PF00008	EGF	178 → 208	EGF-like domain	Domain
  PF00051	Kringle	217 → 295	Kringle domain	Domain
  PF00089	Trypsin	373 → 609	Trypsin	Domain

• Sequence:

  MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHK
  CTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCL
  CPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRT
  NPCLHGGRCLEVEGHRLCHCPVGYTGAFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQP
  WASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQ
  AAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCG
  QRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAP
  EDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSP
  YVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGS
  SILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYT
  DVAYYLAWIREHTVS

• Sequence length: 615

Pathways

KEGG:

Complement and coagulation cascades

Reactome:

Intrinsic Pathway of Fibrin Clot Formation

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
Angioedema	Pathogenic	rs118204456	RCV000414902	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
F12-related disorder	Likely pathogenic	rs1554097246	RCV004732916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FACTOR XII (LOCARNO)	Pathogenic	rs118204454	RCV000001224	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FACTOR XII (WASHINGTON D.C.)	Pathogenic	rs1157280571	RCV000001223	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Factor XII deficiency disease	Likely pathogenic; Pathogenic	rs199988476, rs118204456, rs41309762, rs2481043070, rs2481036738	RCV005360456 RCV000763138 RCV001198361 RCV003313870 RCV003455830 RCV003991140	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary angioedema type 3	Pathogenic; Likely pathogenic	rs118204456, rs774034606, rs1554097246	RCV000001228 RCV000001229 RCV000456124 RCV000510138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary angioneurotic edema	Pathogenic	rs118204456	RCV000222890	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperbilirubinemia	Pathogenic	rs118204456	RCV000414902	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertensive disorder	Pathogenic	rs118204456	RCV000414902	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Urticaria	Pathogenic	rs118204456	RCV000414902	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANGIOEDEMA, HEREDITARY, 3	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMAS, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FACTOR XII DEFICIENCY	—	ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
F12 POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
F12-ASSOCIATED COLD AUTOINFLAMMATORY SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
F12-RELATED HEREDITARY ANGIOEDEMA WITH NORMAL C1INH	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACTOR XII DEFICIENCY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ANGIOEDEMA TYPE III	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOEMBOLISM	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT ISCHEMIC ATTACK	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	BEFREE	31263257		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	15567455		★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander disease	Pubtator	37866310	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	37646115	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	11719358	Associate	★☆☆☆☆ Found in Text Mining only
Angioedema	Angioedema	Pubtator	17186468, 25196353, 26395818, 36787826	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Angioedemas Hereditary	Angioedema	Pubtator	17186468, 25401373, 26395818, 27271546, 30394658, 31771982, 33036649, 33348403, 33593719, 33799813, 36203598, 36720386, 36787826	Associate	★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	16638441, 17085286, 17186468, 19178407, 19474702, 19843402, 20384613, 25134986, 25790805, 27905115, 28251901, 28601681, 28795768, 29128335, 3965500, 6733980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angioedemas, Hereditary	Angioedema	CLINVAR_DG	16638441, 17186468, 17825897, 19178938, 19474702, 20490261, 25744496, 25790805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angioedemas, Hereditary	Angioedema	GENOMICS_ENGLAND_DG	19178938		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angioedemas, Hereditary	Angioedema	CTD_human_DG	19477491		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antithrombin III Deficiency	Antithrombin deficiency	Pubtator	34207366	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	21843957	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27786338		★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	31771982	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27786338		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	12437660, 1324834, 24158387, 30594242, 30801944	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	1905067, 30174843		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	26057532, 29769125	Stimulate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	33317433	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27556857	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28572533, 30705246	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18974842		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	18974842	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	36142883	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	28433996	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	10650849		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	19933990, 26286125	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21909687		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	Pubtator	33036649	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	33036649	Associate	★☆☆☆☆ Found in Text Mining only
Congenital factor XII deficiency	Congenital Factor XII Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25421578, 28572533		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15257949		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	15257949, 19204433, 9081677		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	15567455		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	18021303, 22388798	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	15257949		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	24691729		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	21488867	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36080270	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18021303	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19933990	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	31771982	Associate	★☆☆☆☆ Found in Text Mining only
F12-related hereditary angioedema with normal C1Inh	Angioedema	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XII Deficiency	Factor XII Deficiency	UNIPROT_DG	10361128, 11776307, 15205584, 15617741, 2510163, 2882793, 8049433, 8528215, 9354665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XII Deficiency	Factor xii deficiency	Pubtator	10361128, 19786295, 26709783, 28007010, 2882793, 29587641, 30929639, 33317433, 35675023, 35866546, 36481867, 37391120, 38057855, 39385199, 6793628	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XII Deficiency	Factor XII Deficiency	BEFREE	110893, 1550105, 20729721, 2882793, 6793628, 7235815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XII Deficiency	Factor XII Deficiency	CLINGEN_DG	15205584, 15351846, 18024408, 20022356, 20386432, 21264442, 26709783, 28007010, 29383625, 30700128, 31022435		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XII Deficiency	Factor XII Deficiency	LHGDN	18710647		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XII Deficiency	Factor XII Deficiency	ORPHANET_DG	20386432, 22043782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XII Deficiency	Factor XII Deficiency	CLINVAR_DG	21264442		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XII Deficiency	Factor XII Deficiency	GENOMICS_ENGLAND_DG	27003566, 2882793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XII Deficiency	Factor xii deficiency	Pubtator	28007010, 30929639, 35866546	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XII Deficiency	Factor XII Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Factor XII Deficiency	Factor XII Deficiency	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	26799785		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	20552683	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	38057855	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Stroke	Hemorrhagic stroke	Pubtator	28433996	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Angioedema	CLINGEN_DG	16638441, 17381464, 21849258, 23994767, 25524745, 26193639, 30463937		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type III	Angioedema	UNIPROT_DG	16638441, 17186468		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type III	Angioedema	BEFREE	17085286, 17186468, 19178407, 26193639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	17186468, 25196353, 33639628, 36787826	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type III	Angioedema	GENOMICS_ENGLAND_DG	19178938, 27003566, 2882793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type III	Angioedema	ORPHANET_DG	20384613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type III	Angioedema	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Angioedema Type III	Angioedema	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary angioedema with normal C1 esterase inhibitor activity	Angioedema	ORPHANET_DG	20384613		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	18021303	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	18021303, 28433996, 28784648	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	6383834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	24316875, 30705246	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	34873957	Stimulate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28242605		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	15232129, 31127075		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26799785		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	34000623	Associate	★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	7770125		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	10650849		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	10650849		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10650849		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	10650849		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	30705246		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21512133		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	11821096, 16167952		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	18021303	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	21512133, 29481555		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Non rare thrombophilia	Non Rare Thrombophilia	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21959347	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22575062		★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	21488867	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	26057532	Stimulate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	19625260		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	19625260		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	30705246		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28572533		★☆☆☆☆ Found in Text Mining only
Sotos Syndrome	Sotos syndrome	Pubtator	16170239	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24158387	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	26286125, 34979665	Associate	★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	17408404, 27976734	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombophilia	Thrombophilia	BEFREE	10650856, 15232129		★☆☆☆☆ Found in Text Mining only
Thrombophilia hereditary	Thrombophilia	Pubtator	34207366	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	11805911, 19786295, 28433996, 29587641, 30801944, 36913975, 39385199	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35483340	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34221185	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18365907		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24316875	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vasculitis	Vasculitis	Pubtator	37866310	Stimulate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	25341889, 29587641	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	17408404, 20141580	Associate	★☆☆☆☆ Found in Text Mining only