Blood coagulation disease

Summary

Blood coagulation disease (MONDO:0001531) is a disease (an umbrella term covering 8 Mondo subtypes) with 33 GWAS associations across 27 studies and 241 clinical trials. Top therapeutic interventions include dabigatran etexilate, desmopressin, and norepinephrine. A subtype of hematologic disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 8 Mondo subtypes
• GWAS associations: 33
• Clinical trials: 241

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	blood coagulation disease
Mondo ID	MONDO:0001531
EFO	EFO:0009314
MeSH	D001778
DOID	DOID:1247
NCIT	C2902
SNOMED CT	64779008
UMLS	C0005779
MedGen	604
Is cancer (heuristic)	no

Also known as: blood coagulation disorder · coagulation defect · coagulation disorder · coagulation disorder, blood · coagulation disorders, blood · coagulopathy · disorder, blood coagulation · disorders, blood coagulation

Data availability: 33 GWAS associations (27 studies).

Disease family

This is a subtype of hematologic disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › hematologic disorder › blood coagulation disease

Related subtypes (26): autoimmune disorder of blood, hemorrhagic disease, blood platelet disease, anemia, splenic disorder, hematopoietic and lymphoid system neoplasm, blood group incompatibility, bone marrow disorder, thymus gland disorder, leukocyte disorder, monoclonal gammopathy, septicemic plague, hyperamylasemia, alpha thalassemia-intellectual disability syndrome type 1, Bloom syndrome, congenital hematological disorder, alpha-thalassemia-myelodysplastic syndrome, deafness-lymphedema-leukemia syndrome, L-ferritin deficiency, dyskeratosis congenita, autosomal dominant 6, polyclonal hyperviscosity syndrome, parasitemia, erythrocyte disorder, premalignant hematological system disease, GATA1-Related X-Linked Cytopenia, paraneoplastic hematological syndrome

Subtypes (8): marantic endocarditis, hemolytic-uremic syndrome, coagulation protein disease, thrombophilia, hemorrhagic disease of newborn, thrombotic microangiopathy, inherited blood coagulation disorder, prekallikrein deficiency

Genetics & variants

GWAS landscape

33 GWAS associations across 27 studies. Top hits map to 13 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs1209731	1e-323	NME7	T	1.19
rs145163454	1e-323	ATP1B1	T	1.17
rs1894692	1e-158	SLC19A2 - F5	G	1.15
rs1799963	3e-49	F2	G	0.61
chr11:46931087	7e-43		C	0.69
rs587611953	1e-31	ABO	C	0.22
rs12639654	8e-29	LINC01438	C	0.2
chr4:111695814	9e-25		A	0.2
rs115478735	4e-21	ABO	A	0.23
rs6025	5e-20	F5	?	1.72
rs144737447	1e-17	NME7, ATP1B1	C	1.27
chr4:111710169	9e-17		C	0.24
rs2066861	2e-16	FGG	C	0.11
rs6843082	1e-13	LINC01438	G	0.17
rs201217836	3e-13	TMC5	C	3.33
rs541273769	8e-13	CAST	C	3.43
chr4:155542248	8e-12		C	0.1
rs9685830	2e-11	PITX2 - LINC01438	G	0.18
rs577028664	2e-11	ADAMTS17	C	2.38
rs200045749	2e-11	PROC	C	0.68
chr4:187196580	4e-11		C	0.1
rs1028520850	4e-11	TRIB3	A	3.6
rs142629930	2e-08	CSNK2A2	?
rs73126562	4e-08	MUCL1 - TESPA1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475796	Verma A	2024	12,262	427,221	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475800	Verma A	2024	5,110	440,924	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475805	Verma A	2024	3,966	439,898	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475795	Verma A	2024	2,785	116,154	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479980	Verma A	2024	2,785	116,154	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473139	UK Biobank Whole-Genome Sequencing Consortium	2025	2,497	455,943	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90651633	Liu TY	2025	1,427	231,777	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90079713	Backman JD	2021	1,286	386,192	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083699	Backman JD	2021	1,286	386,192	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90477463	Verma A	2024	1,080	119,501	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	2
Tier 2: splice/UTR	2
Tier 3: regulatory	1
Tier 4: intronic/intergenic	19

MAF distribution

Bucket	Variants
common (>=0.05)	12
low_freq (0.01-0.05)	5
rare (<0.01)	6
unknown	1

Functional consequences

Consequence	Count
intron_variant	9
unknown	5
intergenic_variant	3
non_coding_transcript_exon_variant	2
missense_variant	2
3_prime_UTR_variant	1
splice_region_variant	1
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs1209731	1	169355555	T>A,C,G	0.047	intron_variant	NME7	1e-323	Tier 4: intronic/intergenic
rs145163454	1	169121510	T>A,C	0.018	intron_variant	ATP1B1	1e-323	Tier 4: intronic/intergenic
rs1894692	1	169498416	G>A	0.036	non_coding_transcript_exon_variant	SLC19A2 - F5	1e-158	Tier 4: intronic/intergenic
rs1799963	11	46739505	G>A	0.012	3_prime_UTR_variant	F2	3e-49	Tier 2: splice/UTR
chr11:46931087				0.013			7e-43	Tier 4: intronic/intergenic
rs587611953	9	133270004	C>A,G	0.179	intron_variant	ABO	1e-31	Tier 4: intronic/intergenic
rs12639654	4	110784139	C>T	0.107	intron_variant	LINC01438	8e-29	Tier 4: intronic/intergenic
chr4:111695814				0.116			9e-25	Tier 4: intronic/intergenic
rs115478735	9	133274295	A>T	0.193	intron_variant	ABO	4e-21	Tier 4: intronic/intergenic
rs6025	1	169549811	C>A,G,T	0.05	missense_variant	F5	5e-20	Tier 1: coding
rs144737447	1	169191220	C>T	0.004	intron_variant	NME7, ATP1B1	1e-17	Tier 4: intronic/intergenic
chr4:111710169				0.118			9e-17	Tier 4: intronic/intergenic
rs2066861	4	154606284	C>A,G,T	0.247	intron_variant	FGG	2e-16	Tier 4: intronic/intergenic
rs6843082	4	110796911	G>A,T	0.245	non_coding_transcript_exon_variant	LINC01438	1e-13	Tier 4: intronic/intergenic
rs201217836	16	19440222	C>T	0	missense_variant	TMC5	3e-13	Tier 1: coding
rs541273769	5	96641188	C>G,T	0	intergenic_variant	CAST	8e-13	Tier 4: intronic/intergenic
chr4:155542248				0.243			8e-12	Tier 4: intronic/intergenic
rs9685830	4	110761735	G>A,C,T	0.233	intergenic_variant	PITX2 - LINC01438	2e-11	Tier 4: intronic/intergenic
rs577028664	15	100311419	C>T	0	intron_variant	ADAMTS17	2e-11	Tier 4: intronic/intergenic
rs200045749	2	127423170	C>T	0.008	splice_region_variant	PROC	2e-11	Tier 2: splice/UTR
chr4:187196580				0.303			4e-11	Tier 4: intronic/intergenic
rs1028520850	20	366417	A>G	0	regulatory_region_variant	TRIB3	4e-11	Tier 3: regulatory
rs142629930	16	58169337	C>T		intron_variant	CSNK2A2	2e-08	Tier 4: intronic/intergenic
rs73126562	12	54926677	C>G,T	0.05	intergenic_variant	MUCL1 - TESPA1	4e-08	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

1 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Prothrombin	Approved (phase 4)
Tranexamic Acid	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Aspirin, Atropine, Bupivacaine, Edoxaban, Enoxaparin Sodium, Ephedrine, Ergocalciferol, Morphine, Sodium Chloride, Starch.

Clinical trials & evidence

Clinical trials

Clinical trials: 241.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	177
PHASE3	17
PHASE4	16
PHASE2	13
PHASE1	12
PHASE1/PHASE2	5
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06481995	PHASE4	RECRUITING	SWIFT - SWIss Factor XIII Trial in PPH
NCT00168090	PHASE4	COMPLETED	Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex in Surgical Subjects With Von Willebrand Disease (vWD)
NCT00188747	PHASE4	COMPLETED	Comparison of Three Management Strategies for Post Cardiac Surgery Bleeding
NCT00377143	PHASE4	WITHDRAWN	PRospective Evaluation Comparing Initiation of Warfarin StrategiEs (PRECISE): Pharmacogenetic-guided Versus Usual Care
NCT00964353	PHASE4	COMPLETED	Clinical and Economic Implications of Genetic Testing for Warfarin Management
NCT00966290	PHASE4	COMPLETED	Anticoagulant Clinics and Vitamin K Antagonists
NCT01221389	PHASE4	WITHDRAWN	Study Using Plasma for Patients Requiring Emergency Surgery
NCT01487837	PHASE4	COMPLETED	Fibrinogen for Treatment of Pediatric Dilutional Coagulopathy. FibPaed Study.
NCT02050841	PHASE4	COMPLETED	Octaplas Pediatric Plasma Replacement Trial
NCT02774317	PHASE4	WITHDRAWN	Pilot Study to Compare Fresh Frozen Plasma With 24-Hour Plasma in Babies Up to Age Six Months
NCT03343418	PHASE4	UNKNOWN	Effects of Prophylactic Desmopressin on Blood Coagulation Parameters in Heart Valve Surgery
NCT03666650	PHASE4	COMPLETED	NOAC Plasma Concentration and Blood Coagulation in Healthy Volunteers
NCT03884725	PHASE4	UNKNOWN	Fibrinogen Concentrate In Children Cardiac Surgery 2
NCT04534751	PHASE4	UNKNOWN	Factor In the Initial Resuscitation of Severe Trauma 2 Patients
NCT06174961	PHASE4	COMPLETED	The Effect of Exercise on Pharmacodynamics and Pharmacokinetics of a Single Dose of Unfractionated Heparin
NCT06630572	PHASE4	TERMINATED	Rifaximin in Cirrhosis: Effects on Endotoxin and Haemostatic Indexes
NCT05156983	PHASE3	RECRUITING	A Study of TAK-330 to Reverse the Effects of Factor Xa Inhibitors For Adults Needing Urgent Surgery
NCT05449834	PHASE3	RECRUITING	Fibrinogen Early In Severe Trauma StudY II
NCT07288489	PHASE3	NOT_YET_RECRUITING	Phase 3 Trial of VMX-C001 vs Usual Pharmacological Care in Patients Taking a FXa Direct Oral Anticoagulant Who Require Urgent Surgery With or Without Heparin.
NCT00000582	PHASE3	COMPLETED	Cooperative Study of Factor VIII Inhibitors
NCT00214656	PHASE3	UNKNOWN	Salvage Use of Recombinant Factor VIIa After Inadequate Haemostasis in Complex Cardiac Surgery
NCT00233246	PHASE3	WITHDRAWN	Fresh-Frozen Plasma Infusions to Reduce Risk of Bleeding Related to Invasive Procedures
NCT00708435	PHASE3	COMPLETED	Efficacy and Safety Study of BERIPLEX® P/N (Kcentra) Compared With Plasma in Patients With Acute Major Bleeding Caused by Anticoagulant Therapy
NCT01029340	PHASE3	COMPLETED	Trial to Evaluate the Efficacy and Safety of a New Full Length Recombinant Human FVIII for Hemophilia A
NCT01511939	PHASE3	COMPLETED	Trial to See if Topical Pennsaid for Knee Pain Affects Coagulation Values in Patients Who Are Also Taking Anticoagulants
NCT01598831	PHASE3	COMPLETED	Phase 3 Safety and Efficacy Study of ART-123 in Subjects With Severe Sepsis and Coagulopathy
NCT01854476	PHASE2/PHASE3	UNKNOWN	Safety and Efficacy Study Comparing Pad-gauze With Anti-fibrinolytic Agent Hemostopan™) to a Regular Pad-gauze
NCT02187120	PHASE3	COMPLETED	Pre-hospital Anti-fibrinolytics for Traumatic Coagulopathy and Haemorrhage (The PATCH Study)
NCT02561026	PHASE3	UNKNOWN	Transfusion of Plasma Prior to Invasive Procedures Pilot Trial (TOPPIT)
NCT02637427	PHASE3	COMPLETED	Does Plasma Reduce Bleeding in Patients Undergoing Invasive Procedures
NCT02750150	PHASE3	COMPLETED	Freeze-dried Plasma in the Initial Management of Coagulopathy in Trauma Patients
NCT04408235	PHASE3	UNKNOWN	High Versus Low LMWH Dosages in Hospitalized Patients With Severe COVID-19 Pneumonia and Coagulopathy
NCT04431999	PHASE3	COMPLETED	Evaluation of a Transfusion Therapy Using Whole Blood in the Management of Coagulopathy in Patients With Acute Traumatic Hemorrhage
NCT04528888	PHASE3	UNKNOWN	Steroids and Unfractionated Heparin in Critically Ill Patients With Pneumonia From COVID-19 Infection
NCT07214103	PHASE2	NOT_YET_RECRUITING	Phase IIb Multicenter Randomized Controlled Trial Evaluating the Efficacy of Sivelestat in Patients With Septic Coagulopathy
NCT00359398	PHASE2	TERMINATED	Sequestration of Platelets Prior to Bypass Reduces Bleeding After Cardiac Surgery
NCT00493272	PHASE1/PHASE2	COMPLETED	Dilutional Coagulopathy in Patients Undergoing Elective Surgery
NCT00868309	PHASE2	COMPLETED	A Comparison of Crotalinae Equine Immune F(ab)2 Antivenom (Anavip) and Crotalidae Polyvalent Immune Fab,
NCT01187225	PHASE2	COMPLETED	Fibrinogen Concentrate In Children After Cardiac Surgery
NCT01787552	PHASE1/PHASE2	COMPLETED	A Phase Ib/II Dose-finding Study to Assess the Safety and Efficacy of LDE225 + INC424 in Patients With MF

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DABIGATRAN ETEXILATE	4	3
DESMOPRESSIN	4	3
NOREPINEPHRINE	4	3
EDOXABAN	4	2
METAMIZOLE	4	2
WARFARIN	4	2
ACENOCOUMAROL	4	1
DANAZOL	4	1
DICLOFENAC SODIUM	4	1
EPTACOG ALFA (ACTIVATED)	4	1
HEPARIN	4	1
NORETHINDRONE	4	1
RIFAXIMIN	4	1
RUXOLITINIB	4	1
SONIDEGIB	4	1
VITAMIN E	4	1
FIBRINOGEN, HUMAN	3	8
BLOOD, WHOLE	3	2
CHAMOMILE	3	2
CAMOSTAT MESILATE	3	1
HETASTARCH	3	1
PROTHROMBIN COMPLEX CONCENTRATE	3	1
SOVLEPLENIB	3	1
THROMBOMODULIN ALFA	3	1
ANFIBATIDE	2	1
ANTIVENIN (CROTALIDAE) POLYVALENT	2	1
CHEMBL4303203	0	2
CHEMBL4643136	0	2
CHEMBL4071896	0	1
CHEMBL4128407	0	1