VKORC1 (vitamin K epoxide reductase complex subunit 1)

Gene

• Entrez ID: 79001
• Gene name: Vitamin K epoxide reductase complex subunit 1
• Gene symbol: VKORC1
• Synonyms (NCBI Gene): EDTP308, MST134, MST576, VKCFD2, VKOR
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2359612	A>G	Benign, drug-response	Intron variant
rs2884737	A>C	Drug-response	Intron variant
rs8050894	C>A,G,T	Drug-response, likely-benign	Intron variant
rs9923231	C>A,G,T	Drug-response, likely-benign, other	Upstream transcript variant
rs9934438	G>A,C	Benign, drug-response, likely-benign	Intron variant
rs17708472	G>A	Benign, drug-response	Intron variant
rs61742245	C>A,T	Pathogenic, drug-response	Missense variant, coding sequence variant
rs72547529	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs104894539	C>A	Pathogenic	Coding sequence variant, missense variant
rs104894540	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894541	T>C	Pathogenic	Coding sequence variant, missense variant
rs397509427	->C	Drug-response	Upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007088	hsa-miR-133a-3p	Luciferase reporter assay	23154637
MIRT007088	hsa-miR-133a-3p	Luciferase reporter assay	23154637
MIRT022348	hsa-miR-124-3p	Microarray	18668037
MIRT051124	hsa-miR-16-5p	CLASH	23622248
MIRT044407	hsa-miR-320a	CLASH	23622248
MIRT043646	hsa-miR-326	CLASH	23622248
MIRT723887	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT723886	hsa-miR-3155a	HITS-CLIP	19536157
MIRT723885	hsa-miR-3155b	HITS-CLIP	19536157
MIRT723884	hsa-miR-484	HITS-CLIP	19536157
MIRT723883	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT723882	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT723881	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT723880	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT736482	hsa-miR-133b	qRT-PCR	33083118
MIRT723887	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT723886	hsa-miR-3155a	HITS-CLIP	19536157
MIRT723885	hsa-miR-3155b	HITS-CLIP	19536157
MIRT723884	hsa-miR-484	HITS-CLIP	19536157
MIRT723883	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT723882	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT723881	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT723880	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT1485096	hsa-miR-1178	CLIP-seq
MIRT1485097	hsa-miR-1245b-3p	CLIP-seq
MIRT1485098	hsa-miR-1270	CLIP-seq
MIRT1485099	hsa-miR-1276	CLIP-seq
MIRT1485100	hsa-miR-1285	CLIP-seq
MIRT1485101	hsa-miR-133a	CLIP-seq
MIRT1485102	hsa-miR-137	CLIP-seq
MIRT1485103	hsa-miR-1470	CLIP-seq
MIRT1485104	hsa-miR-3144-5p	CLIP-seq
MIRT1485105	hsa-miR-3187-5p	CLIP-seq
MIRT1485106	hsa-miR-3191	CLIP-seq
MIRT1485107	hsa-miR-330-3p	CLIP-seq
MIRT1485108	hsa-miR-3688-3p	CLIP-seq
MIRT1485109	hsa-miR-3688-5p	CLIP-seq
MIRT1485110	hsa-miR-3940-5p	CLIP-seq
MIRT1485111	hsa-miR-3978	CLIP-seq
MIRT1485112	hsa-miR-4257	CLIP-seq
MIRT1485113	hsa-miR-4292	CLIP-seq
MIRT1485114	hsa-miR-4308	CLIP-seq
MIRT1485115	hsa-miR-4455	CLIP-seq
MIRT1485116	hsa-miR-4507	CLIP-seq
MIRT1485117	hsa-miR-4531	CLIP-seq
MIRT1485118	hsa-miR-4641	CLIP-seq
MIRT1485119	hsa-miR-4652-5p	CLIP-seq
MIRT1485120	hsa-miR-4667-3p	CLIP-seq
MIRT1485121	hsa-miR-4690-3p	CLIP-seq
MIRT1485122	hsa-miR-4786-5p	CLIP-seq
MIRT1485123	hsa-miR-4797-5p	CLIP-seq
MIRT1485124	hsa-miR-609	CLIP-seq
MIRT1485125	hsa-miR-612	CLIP-seq
MIRT1485126	hsa-miR-620	CLIP-seq
MIRT1485127	hsa-miR-642a	CLIP-seq
MIRT1485128	hsa-miR-644	CLIP-seq
MIRT2145941	hsa-miR-1207-5p	CLIP-seq
MIRT1485099	hsa-miR-1276	CLIP-seq
MIRT1485101	hsa-miR-133a	CLIP-seq
MIRT2145942	hsa-miR-147b	CLIP-seq
MIRT2145943	hsa-miR-183	CLIP-seq
MIRT1485107	hsa-miR-330-3p	CLIP-seq
MIRT2145944	hsa-miR-3607-5p	CLIP-seq
MIRT2145945	hsa-miR-3621	CLIP-seq
MIRT2145946	hsa-miR-3656	CLIP-seq
MIRT2145947	hsa-miR-4323	CLIP-seq
MIRT1485115	hsa-miR-4455	CLIP-seq
MIRT2145948	hsa-miR-4459	CLIP-seq
MIRT2145949	hsa-miR-4722-5p	CLIP-seq
MIRT2145950	hsa-miR-4736	CLIP-seq
MIRT2145951	hsa-miR-4758-3p	CLIP-seq
MIRT2145952	hsa-miR-4763-3p	CLIP-seq
MIRT2145953	hsa-miR-4779	CLIP-seq
MIRT1485124	hsa-miR-609	CLIP-seq
MIRT2145954	hsa-miR-765	CLIP-seq
MIRT1485096	hsa-miR-1178	CLIP-seq
MIRT2145941	hsa-miR-1207-5p	CLIP-seq
MIRT1485097	hsa-miR-1245b-3p	CLIP-seq
MIRT1485099	hsa-miR-1276	CLIP-seq
MIRT1485100	hsa-miR-1285	CLIP-seq
MIRT1485101	hsa-miR-133a	CLIP-seq
MIRT1485102	hsa-miR-137	CLIP-seq
MIRT1485103	hsa-miR-1470	CLIP-seq
MIRT2145942	hsa-miR-147b	CLIP-seq
MIRT2145943	hsa-miR-183	CLIP-seq
MIRT2366355	hsa-miR-1912	CLIP-seq
MIRT1485104	hsa-miR-3144-5p	CLIP-seq
MIRT1485105	hsa-miR-3187-5p	CLIP-seq
MIRT1485106	hsa-miR-3191	CLIP-seq
MIRT1485107	hsa-miR-330-3p	CLIP-seq
MIRT2145944	hsa-miR-3607-5p	CLIP-seq
MIRT2145945	hsa-miR-3621	CLIP-seq
MIRT2145946	hsa-miR-3656	CLIP-seq
MIRT1485108	hsa-miR-3688-3p	CLIP-seq
MIRT1485111	hsa-miR-3978	CLIP-seq
MIRT2366356	hsa-miR-4284	CLIP-seq
MIRT1485113	hsa-miR-4292	CLIP-seq
MIRT1485114	hsa-miR-4308	CLIP-seq
MIRT2366357	hsa-miR-4313	CLIP-seq
MIRT2366358	hsa-miR-4423-3p	CLIP-seq
MIRT2145948	hsa-miR-4459	CLIP-seq
MIRT1485118	hsa-miR-4641	CLIP-seq
MIRT1485119	hsa-miR-4652-5p	CLIP-seq
MIRT1485120	hsa-miR-4667-3p	CLIP-seq
MIRT1485121	hsa-miR-4690-3p	CLIP-seq
MIRT2366359	hsa-miR-4708-3p	CLIP-seq
MIRT2366360	hsa-miR-4717-3p	CLIP-seq
MIRT2145949	hsa-miR-4722-5p	CLIP-seq
MIRT2145950	hsa-miR-4736	CLIP-seq
MIRT2145952	hsa-miR-4763-3p	CLIP-seq
MIRT2145953	hsa-miR-4779	CLIP-seq
MIRT1485122	hsa-miR-4786-5p	CLIP-seq
MIRT1485123	hsa-miR-4797-5p	CLIP-seq
MIRT1485125	hsa-miR-612	CLIP-seq
MIRT1485127	hsa-miR-642a	CLIP-seq
MIRT2366361	hsa-miR-711	CLIP-seq
MIRT2145954	hsa-miR-765	CLIP-seq
MIRT2145941	hsa-miR-1207-5p	CLIP-seq
MIRT1485097	hsa-miR-1245b-3p	CLIP-seq
MIRT2659896	hsa-miR-1296	CLIP-seq
MIRT1485101	hsa-miR-133a	CLIP-seq
MIRT2145942	hsa-miR-147b	CLIP-seq
MIRT2145943	hsa-miR-183	CLIP-seq
MIRT2366355	hsa-miR-1912	CLIP-seq
MIRT1485107	hsa-miR-330-3p	CLIP-seq
MIRT2145944	hsa-miR-3607-5p	CLIP-seq
MIRT2145945	hsa-miR-3621	CLIP-seq
MIRT2145946	hsa-miR-3656	CLIP-seq
MIRT2366356	hsa-miR-4284	CLIP-seq
MIRT2366357	hsa-miR-4313	CLIP-seq
MIRT2145947	hsa-miR-4323	CLIP-seq
MIRT2366358	hsa-miR-4423-3p	CLIP-seq
MIRT2145948	hsa-miR-4459	CLIP-seq
MIRT2659897	hsa-miR-4512	CLIP-seq
MIRT2366359	hsa-miR-4708-3p	CLIP-seq
MIRT2366360	hsa-miR-4717-3p	CLIP-seq
MIRT2145949	hsa-miR-4722-5p	CLIP-seq
MIRT2145950	hsa-miR-4736	CLIP-seq
MIRT2145951	hsa-miR-4758-3p	CLIP-seq
MIRT2145952	hsa-miR-4763-3p	CLIP-seq
MIRT2145953	hsa-miR-4779	CLIP-seq
MIRT2366361	hsa-miR-711	CLIP-seq
MIRT2145954	hsa-miR-765	CLIP-seq
MIRT2145941	hsa-miR-1207-5p	CLIP-seq
MIRT2659896	hsa-miR-1296	CLIP-seq
MIRT1485101	hsa-miR-133a	CLIP-seq
MIRT2145942	hsa-miR-147b	CLIP-seq
MIRT2145943	hsa-miR-183	CLIP-seq
MIRT2366355	hsa-miR-1912	CLIP-seq
MIRT1485107	hsa-miR-330-3p	CLIP-seq
MIRT2145944	hsa-miR-3607-5p	CLIP-seq
MIRT2145945	hsa-miR-3621	CLIP-seq
MIRT2145946	hsa-miR-3656	CLIP-seq
MIRT2366356	hsa-miR-4284	CLIP-seq
MIRT2366357	hsa-miR-4313	CLIP-seq
MIRT2145947	hsa-miR-4323	CLIP-seq
MIRT2366358	hsa-miR-4423-3p	CLIP-seq
MIRT2145948	hsa-miR-4459	CLIP-seq
MIRT2659897	hsa-miR-4512	CLIP-seq
MIRT2366359	hsa-miR-4708-3p	CLIP-seq
MIRT2366360	hsa-miR-4717-3p	CLIP-seq
MIRT2145949	hsa-miR-4722-5p	CLIP-seq
MIRT2145950	hsa-miR-4736	CLIP-seq
MIRT2145951	hsa-miR-4758-3p	CLIP-seq
MIRT2145952	hsa-miR-4763-3p	CLIP-seq
MIRT2145953	hsa-miR-4779	CLIP-seq
MIRT2366361	hsa-miR-711	CLIP-seq
MIRT2145954	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22046132, 32296183
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	22923610
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006805	Process	Xenobiotic metabolic process	IMP	21127708
GO:0007596	Process	Blood coagulation	IBA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IMP	16270630
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016728	Function	Oxidoreductase activity, acting on CH or CH2 groups, disulfide as acceptor	IEA
GO:0017187	Process	Peptidyl-glutamic acid carboxylation	IMP	20978134
GO:0042373	Process	Vitamin K metabolic process	IBA
GO:0042373	Process	Vitamin K metabolic process	IDA	17073445
GO:0042373	Process	Vitamin K metabolic process	IDA	16270630, 33154105
GO:0042373	Process	Vitamin K metabolic process	IEA
GO:0042373	Process	Vitamin K metabolic process	IEA
GO:0047057	Function	Vitamin-K-epoxide reductase (warfarin-sensitive) activity	IBA
GO:0047057	Function	Vitamin-K-epoxide reductase (warfarin-sensitive) activity	IDA	16270630, 33154105
GO:0047057	Function	Vitamin-K-epoxide reductase (warfarin-sensitive) activity	IEA
GO:0047058	Function	Vitamin-K-epoxide reductase (warfarin-insensitive) activity	IDA	33154105
GO:0048038	Function	Quinone binding	IEA
GO:0050820	Process	Positive regulation of coagulation	IEA
GO:0060348	Process	Bone development	IEA
GO:0060348	Process	Bone development	ISS

Other IDs

• MIM: 608547
• HGNC: 23663
• e!Ensembl: ENSG00000167397

Protein

• UniProt ID: Q9BQB6
• Protein name: Vitamin K epoxide reductase complex subunit 1 (EC 1.17.4.4) (Vitamin K1 2,3-epoxide reductase subunit 1)
• Protein function: Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, includ
• PDB: 6WV3, 6WV4, 6WV5, 6WV6, 6WV7, 6WVH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07884	VKOR	10 → 150	Vitamin K epoxide reductase family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at highest levels in fetal and adult liver, followed by fetal heart, kidney, and lung, adult heart, and pancreas. {ECO:0000269|PubMed:14765194}.
• Sequence:

  MGSTWGSPGWVRLALCLTGLVLSLYALHVKAARARDRDYRALCDVGTAISCSRVFSSRWG
  RGFGLVEHVLGQDSILNQSNSIFGCIFYTLQLLLGCLRTRWASVLMLLSSLVSLAGSVYL
  AWILFFVLYDFCIVCITTYAINVSLMWLSFRKVQEPQGKAKRH

• Sequence length: 163

Pathways

KEGG:

Ubiquinone and other terpenoid-quinone biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Metabolism of vitamin K

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
Hereditary combined deficiency of vitamin K-dependent clotting factors	Likely pathogenic	rs72547528	RCV005245479	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitamin K-dependent clotting factors, combined deficiency of, type 2	Likely pathogenic	rs72547528	RCV000002290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Warfarin response	Pathogenic	rs104894539, rs104894540, rs104894541	RCV000002291 RCV000002292 RCV000002293	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
acenocoumarol response - Dosage	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC RUPTURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COUMARIN RESISTANCE	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
phenprocoumon response - Dosage	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
phenprocoumon response - Toxicity	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombus	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous thromboembolism	drug response	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Vitamin K-Dependent Clotting Factors	Uncertain significance; Benign; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VKORC1-related disorder	drug response; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
warfarin response - Dosage	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
warfarin response - Efficacy	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
warfarin response - Toxicity	drug response	ClinVar	★★☆☆☆ 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	CTD_human_DG	16549638		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	24974237		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	25699611		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33682710	Associate	★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen-tawil syndrome	Pubtator	23703341	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	15972850	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Ruptured	Aortic Aneurysm	CTD_human_DG	16549638		★☆☆☆☆ Found in Text Mining only
Aortic Rupture	Aortic Rupture	CTD_human_DG	16549638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	BEFREE	16549638, 21767890, 22915323, 23703341		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16549638, 21767890, 22915323, 23703341		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23703341	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	22534826, 23519598, 24251360, 26230572, 28083852, 29494423, 29577257, 29776386, 31059093		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	29776386, 30371151, 31952675	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	27959270		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	23362849		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	18315553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	18315553, 25179312, 33730015	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood Coagulation Disorders	CTD_human_DG	19141161		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	16720838	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	21179439, 23703341	Associate	★☆☆☆☆ Found in Text Mining only
Budd-Chiari Syndrome	Budd-Chiari syndrome	BEFREE	30617764		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	28212442	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	15972850, 37653796	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18826394		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18841283, 24855061, 30214074, 30371151		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	32698322, 37653796	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	27703968, 37653796	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16549638, 18841283, 20193673, 24974237, 26230572, 30183354, 31293107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	CTD_human_DG	16549638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	24535562, 26600534		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	29916837		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24855061, 29916837		★☆☆☆☆ Found in Text Mining only
Coagulation factor deficiency syndrome	Coagulation Factor Deficiency Syndrome	BEFREE	14765194, 16720838, 24762275		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30848333, 31653973		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	16549638, 17549303, 18841283, 22915323		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	16549638, 17549303, 18841283, 22915323		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16549638, 17549303, 18841283, 22915323		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	CTD_human_DG	16549638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	LHGDN	17549303		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coumarin Resistance	Coumarin resistance	Pubtator	20211925	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep Vein Thrombosis	Thrombosis	BEFREE	20811787, 23124848, 24978953, 25976278		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	33682710	Associate	★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	33682710	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21767890		★☆☆☆☆ Found in Text Mining only
Diffuse alveolar hemorrhage	Diffuse alveolar hemorrhage	BEFREE	20121287		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	16549638, 17549303		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30099920	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	28281786		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	18950464, 28338108, 36942299	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39443086	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	22130800, 23183958		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32698322	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31653973		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	33087117	Associate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	26167638		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	30732170	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	18315553, 28689179, 37653796	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhagic Disorders	Hemorrhagic Disorders	BEFREE	27824210		★☆☆☆☆ Found in Text Mining only
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	BEFREE	30617764		★☆☆☆☆ Found in Text Mining only
Hereditary combined deficiency of vitamin K-dependent clotting factors	Combined Deficiency Of Vitamin K-Dependent Clotting Factors	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertension	Hypertension	Pubtator	34026292, 37653796	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31653973		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27765905	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	30866412	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	30099920	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	18841283, 20193673, 24288433, 27703968		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	29916837		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20575749, 30306378		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30306378		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	23124848	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	23124848		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19124480, 27889279		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16651374		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	29778033		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	32698322	Associate	★☆☆☆☆ Found in Text Mining only
Myxoma	Myxoma	BEFREE	31520636		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20575749		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	30099920	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	27765905	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	28817838	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27593608, 28408837		★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	BEFREE	23732872		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	34412027	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	23703341		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	20621035, 23703341, 29437025, 30892416, 31774873		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	21179439, 23703341, 31774873	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	29437025		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19124480, 27889279		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	19124480		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	25264593		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	30866412	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	16651374		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	20709439		★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	BEFREE	22394334, 23972066		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	31293107, 32071341	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	24956252		★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	25069476	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	30933373, 31187948		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	22065003, 23124848, 24858991, 28033245, 30933373	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	18315553	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	25976278, 28338108	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	24288433	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	16549638, 17883698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	CTD_human_DG	16549638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular disease	Pubtator	17883698	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thromboembolism	Venous thromboembolism	Pubtator	17883698, 28689179, 38045109	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Venous Thrombosis	Venous thrombosis	Pubtator	23124848, 25976278, 28867752	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin K Deficiency	Vitamin k deficiency	Pubtator	30099920	Associate	★☆☆☆☆ Found in Text Mining only
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	Combined Deficiency Of Vitamin K-Dependent Clotting Factors	ORPHANET_DG	14765194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	Combined Deficiency Of Vitamin K-Dependent Clotting Factors	BEFREE	27681307		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2	Combined Deficiency Of Vitamin K-Dependent Clotting Factors	CTD_human_DG	14765194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2	Combined Deficiency Of Vitamin K-Dependent Clotting Factors	UNIPROT_DG	14765194, 16270630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2	Combined Deficiency Of Vitamin K-Dependent Clotting Factors	GENOMICS_ENGLAND_DG	20946155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2	Combined Deficiency Of Vitamin K-Dependent Clotting Factors	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations