Injury

Summary

Injury (MONDO:0021178) is a disease (an umbrella term covering 10 Mondo subtypes) with 66 GWAS associations across 265 studies and 999 clinical trials. Top therapeutic interventions include eptacog alfa (activated), calcium gluconate, and etomidate.

At a glance

• Umbrella term: 10 Mondo subtypes
• GWAS associations: 66
• Clinical trials: 999

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	injury
Mondo ID	MONDO:0021178
EFO	EFO:0000546
MeSH	D014947
NCIT	C3671
Is cancer (heuristic)	no

Also known as: injury · trauma · traumatic injury · wound

Data availability: 66 GWAS associations (265 studies).

Disease family

An umbrella term covering 10 Mondo subtypes.

Subtypes (10): ischemia reperfusion injury, bone fracture, acute lung injury, spinal injury, radiation injury, burn, ankle injury, nervous system injury, frostbite, head injury

Genetics & variants

GWAS landscape

66 GWAS associations across 265 studies. Top hits map to 22 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs55872725	1e-24	FTO	C	0.06
rs56094641	2e-19	FTO	A	0.07
rs151123321	4e-18	LINC01182 - LINC00504	G	3.43
rs1558902	4e-15	FTO	T	0.06
chr15:84456496	1e-14		G	0.05
rs576496319	1e-13	GRIK4	G	2.37
rs994250851	7e-13	LINC01804 - RNU5E-7P	C	3.44
rs191965707	8e-13	SLC38A11 - SCN3A	G	2.52
rs140624421	1e-12	MYOCD	A	3.41
rs7188250	1e-12	FTO	T	0.06
chr16:53822237	2e-12		A	0.06
rs531189247	2e-12	PTGER2 - TXNDC16	G	3.43
rs184658813	2e-12	CCDC85A - PPIAP63	C	3.24
rs561310437	3e-12	HAR1A - MIR124-3	G	4.77
rs536130415	3e-12	LRPPRC - PPM1B-DT	G	5.26
rs538347552	3e-12	RPS27P13 - GBA3	T	4.17
rs529300015	3e-12	LINC00702 - LINC00703	C	3.82
rs536263465	3e-12	CATSPERD	G	2.17
chr17:44308053	5e-12		A	0.08
rs190202378	5e-12	LINC01153 - RN7SKP167	G	2.08
rs12916455	8e-12	ADAMTSL3	C	0.05
rs551689242	9e-12	RN7SL218P - CXCL3	G	2.77
rs186129124	1e-11	LINC02150	G	2.84
rs529978709	1e-11	KCNQ5	A	3.53
rs549708977	1e-11	PTAR1	C	2.54
rs540277600	1e-11	ARF6 - RNU6-189P	C	3.27
rs78061736	1e-11	KCNS3 - RDH14	G	3.75
rs1362428278	1e-11	SGPP2	A	3.7
chr17:44019103	2e-11		T	0.05
rs573040618	2e-11	NKAIN3	A	4.23

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90038601	Donertas HM	2021	106,605	377,993	Common genetic associations between age-related diseases.
GCST90044319	Jiang L	2021	42,167	411,079	A generalized linear mixed model association tool for biobank-scale data.
GCST90042811	Jiang L	2021	27,818	119,667	A generalized linear mixed model association tool for biobank-scale data.
GCST90042808	Jiang L	2021	14,315	133,267	A generalized linear mixed model association tool for biobank-scale data.
GCST90080432	Backman JD	2021	12,930	368,891	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081105	Backman JD	2021	7,826	379,915	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90041750	Jiang L	2021	6,242	450,106	A generalized linear mixed model association tool for biobank-scale data.
GCST90081047	Backman JD	2021	4,277	364,018	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90077826	Backman JD	2021	3,750	328,004	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90077827	Backman JD	2021	3,750	325,302	Exome sequencing and analysis of 454,787 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	49

MAF distribution

Bucket	Variants
common (>=0.05)	11
low_freq (0.01-0.05)	0
rare (<0.01)	35
unknown	4

Functional consequences

Consequence	Count
intron_variant	28
intergenic_variant	13
unknown	8
splice_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs55872725	16	53775211	C>G,T	0.403	intron_variant	FTO	1e-24	Tier 4: intronic/intergenic
rs56094641	16	53772541	A>G,T	0.405	intron_variant	FTO	2e-19	Tier 4: intronic/intergenic
rs151123321	4	14278458	G>A	0	intergenic_variant	LINC01182 - LINC00504	4e-18	Tier 4: intronic/intergenic
rs1558902	16	53769662	T>A	0.332	intron_variant	FTO	4e-15	Tier 4: intronic/intergenic
chr15:84456496				0.289			1e-14	Tier 4: intronic/intergenic
rs576496319	11	120618932	G>C,T	0.002	intron_variant	GRIK4	1e-13	Tier 4: intronic/intergenic
rs994250851	2	15790340	C>T	0	intergenic_variant	LINC01804 - RNU5E-7P	7e-13	Tier 4: intronic/intergenic
rs191965707	2	165076390	G>A	0	intron_variant	SLC38A11 - SCN3A	8e-13	Tier 4: intronic/intergenic
rs140624421	17	12753425	A>G	0	intron_variant	MYOCD	1e-12	Tier 4: intronic/intergenic
rs7188250	16	53800695	T>C	0.338	intron_variant	FTO	1e-12	Tier 4: intronic/intergenic
chr16:53822237				0.394			2e-12	Tier 4: intronic/intergenic
rs531189247	14	52335753	G>A	0.001	intergenic_variant	PTGER2 - TXNDC16	2e-12	Tier 4: intronic/intergenic
rs184658813	2	56428194	C>G	0.001	intergenic_variant	CCDC85A - PPIAP63	2e-12	Tier 4: intronic/intergenic
rs561310437	20	63105977	G>A	0	intergenic_variant	HAR1A - MIR124-3	3e-12	Tier 4: intronic/intergenic
rs536130415	2	44078341	G>A	0	intergenic_variant	LRPPRC - PPM1B-DT	3e-12	Tier 4: intronic/intergenic
rs538347552	4	22673508	T>G	0	intron_variant	RPS27P13 - GBA3	3e-12	Tier 4: intronic/intergenic
rs529300015	10	4277053	C>G	0.001	intergenic_variant	LINC00702 - LINC00703	3e-12	Tier 4: intronic/intergenic
rs536263465	19	5740480	G>A	0.001	intron_variant	CATSPERD	3e-12	Tier 4: intronic/intergenic
chr17:44308053				0.161			5e-12	Tier 4: intronic/intergenic
rs190202378	10	121219663	G>A	0	intron_variant	LINC01153 - RN7SKP167	5e-12	Tier 4: intronic/intergenic
rs12916455	15	83862162	C>A,T	0.154	intron_variant	ADAMTSL3	8e-12	Tier 4: intronic/intergenic
rs551689242	4	74017809	G>A	0	intron_variant	RN7SL218P - CXCL3	9e-12	Tier 4: intronic/intergenic
rs186129124	5	16439480	G>A,T	0	splice_region_variant	LINC02150	1e-11	Tier 2: splice/UTR
rs529978709	6	72864281	A>T	0.001	intron_variant	KCNQ5	1e-11	Tier 4: intronic/intergenic
rs549708977	9	69728710	C>A,T	0	intron_variant	PTAR1	1e-11	Tier 4: intronic/intergenic
rs540277600	14	49900516	C>G,T	0	intergenic_variant	ARF6 - RNU6-189P	1e-11	Tier 4: intronic/intergenic
rs78061736	2	18489377	G>A,C,T	0.001	intron_variant	KCNS3 - RDH14	1e-11	Tier 4: intronic/intergenic
rs1362428278	2	222489575	A>T	0.001	intron_variant	SGPP2	1e-11	Tier 4: intronic/intergenic
chr17:44019103				0.278			2e-11	Tier 4: intronic/intergenic
rs573040618	8	62294465	A>G,T	0	intron_variant	NKAIN3	2e-11	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

6 approved, 40 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Acetylcysteine	Approved (phase 4)
Beremagene Geperpavec	Approved (phase 4)
Birch Triterpenes	Approved (phase 4)
Menthol	Approved (phase 4)
Methyl Salicylate	Approved (phase 4)
Triamcinolone Acetonide	Approved (phase 4)
Acetaminophen	Phase 3 (in late-stage trials)
Allopurinol	Phase 3 (in late-stage trials)
Aspirin	Phase 3 (in late-stage trials)
Bicyclol	Phase 3 (in late-stage trials)
Blood Cells, Red	Phase 3 (in late-stage trials)
Blood, Whole	Phase 3 (in late-stage trials)
Bupivacaine	Phase 3 (in late-stage trials)
Celecoxib	Phase 3 (in late-stage trials)
DEXTRAN 70	Phase 3 (in late-stage trials)
Dabigatran	Phase 3 (in late-stage trials)
Dexamethasone	Phase 3 (in late-stage trials)
Dexketoprofen	Phase 3 (in late-stage trials)
Dexmedetomidine	Phase 3 (in late-stage trials)
Dornase Alfa	Phase 3 (in late-stage trials)
Etoricoxib	Phase 3 (in late-stage trials)
Fibrin	Phase 3 (in late-stage trials)
Fibrinogen, Human	Phase 3 (in late-stage trials)
Heparin	Phase 3 (in late-stage trials)
Honey	Phase 3 (in late-stage trials)
Ketamine	Phase 3 (in late-stage trials)
Ketoprofen	Phase 3 (in late-stage trials)
Ketorolac	Phase 3 (in late-stage trials)
Lidocaine	Phase 3 (in late-stage trials)
Methoxyflurane	Phase 3 (in late-stage trials)
Methylprednisolone	Phase 3 (in late-stage trials)
Midazolam	Phase 3 (in late-stage trials)
Morphine	Phase 3 (in late-stage trials)
Nitroglycerin	Phase 3 (in late-stage trials)
Nitrous Oxide	Phase 3 (in late-stage trials)
Omeprazole	Phase 3 (in late-stage trials)
Oxandrolone	Phase 3 (in late-stage trials)
Phosphatidylcholine	Phase 3 (in late-stage trials)
Piroxicam	Phase 3 (in late-stage trials)
Platelets	Phase 3 (in late-stage trials)
Povidone-Iodine	Phase 3 (in late-stage trials)
Prothrombin Complex, Activated	Phase 3 (in late-stage trials)
Sodium Chloride	Phase 3 (in late-stage trials)
Sufentanil	Phase 3 (in late-stage trials)
Tacrolimus Anhydrous	Phase 3 (in late-stage trials)
Tranexamic Acid	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Ascorbic Acid, Cannabidiol, Caspofungin, Cefazolin, Cetrimide, Cilostazol, Dalfampridine, Dantrolene, Diazepam, Diclofenac, Donepezil, Epinephrine, Epoetin Beta, Fospropofol, Gabapentin, Glutamine, Hyaluronic Acid, Hydrocodone, Hydrocortisone, Hydromorphone, Ibuprofen, Mecrylate, Melatonin, Metoclopramide, Naproxen, Nicotine, Oxygen, Ozenoxacin, Pentoxifylline, Phenytoin, Plasmalyte A, Pregnenolone Succinate, Propofol, Propranolol, Sorbitol, Tetracaine, Thrombin, Timolol, Tofacitinib, Tramadol, Ulinastatin, Vancomycin, Vitamin E, Zinc Oxide.

Clinical trials & evidence

Clinical trials

Clinical trials: 999.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	811
PHASE2	48
PHASE4	47
PHASE3	46
PHASE1/PHASE2	20
PHASE1	14
EARLY_PHASE1	8
PHASE2/PHASE3	5

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04166877	PHASE4	RECRUITING	Magnesium Infusion for Pain Management in Critically Ill Trauma Patients
NCT06113211	PHASE4	RECRUITING	Nonopioid Pain Control Regimen After Open Reduction and Internal Fixation of Traumatic Fractures
NCT06504992	PHASE4	NOT_YET_RECRUITING	Powdered Intrawound Vancomycin in Open Fractures Trial
NCT06878482	PHASE4	RECRUITING	Effect of Blood Flow by Botulinum Toxin Injection for Severe Peripheral Artery Occlusive Disease
NCT00724035	PHASE4	COMPLETED	Ultrasound-Guided Axillary or Infraclavicular Nerve Block for Upper Limb Surgery
NCT00737425	PHASE4	UNKNOWN	Safety and Efficacy Study of Pain Shield Device to Treat Subjects Following Laparoscopic-Assisted Abdominal Surgery
NCT00746109	PHASE4	COMPLETED	Study of Wound Packing After Superficial Skin Abscess Drainage
NCT00813631	PHASE4	UNKNOWN	The Effect on an Ionic Silver Dressing in Head and Neck Patients With Malignant Fungating Wound
NCT00846261	PHASE4	COMPLETED	The Infected Bone Nonunion and Soft Tissue Defect of Long Bone Treated Simultaneously With Ilizarov Technique
NCT00882960	PHASE4	UNKNOWN	Intranasal Fentanyl for Pain Management
NCT00890383	PHASE4	COMPLETED	Colloids in Severe Trauma
NCT01107821	PHASE4	COMPLETED	Negative Pressure Wound Therapy With the Engenex™-Pump and Bio-Dome™ Dressing, an Evaluation
NCT01153620	PHASE4	COMPLETED	The Antiseptic Efficacy and Tolerability of Lavasept® 0.04% on Acute Traumatic Wounds
NCT01189773	PHASE4	COMPLETED	Combined Analgesia to Control Pain in Children Seen in Emergency Department (ED) for a Trauma of a Limb
NCT01200563	PHASE4	WITHDRAWN	Comparative Effectiveness Study of MIST Therapy Versus Negative Pressure Wound Therapy
NCT01201863	PHASE4	COMPLETED	Neuroendocrine Dysfunction in Traumatic Brain Injury: Effects of Testosterone Therapy
NCT01213420	PHASE4	COMPLETED	Aruba Aloe Formula F-BC-096 in the Treatment of Split Thickness Donor Site After Wound Closure
NCT01221389	PHASE4	WITHDRAWN	Study Using Plasma for Patients Requiring Emergency Surgery
NCT01227005	PHASE4	COMPLETED	Early Whole Blood in Patients Requiring Transfusion After Major Trauma
NCT01514383	PHASE4	COMPLETED	Octylseal Surgical Adhesive in General Surgery
NCT01548443	PHASE4	COMPLETED	Study to Evaluate Clinical Efficacy and Safety of Medifoam H in Wound Healing
NCT01692769	PHASE4	COMPLETED	Trial Of Normal Saline Versus Ringer’s Lactate In Paediatric Trauma Patients
NCT02052024	PHASE4	COMPLETED	Myobloc Atrophy Study
NCT02223689	PHASE4	COMPLETED	Evaluation of Skin Affix in the Emergency Room
NCT02314416	PHASE4	WITHDRAWN	Stem Cells In Wound Healing With Collagen Matrix as a Carrier
NCT02342444	PHASE4	UNKNOWN	Lovenox 30 mg Twice Daily (BID) Versus 40 mg Once Daily (QD)
NCT02396732	PHASE4	TERMINATED	Aspirin and Enoxaparin for VTE in Trauma
NCT02412982	PHASE4	COMPLETED	Evaluation of Venous Thromboembolism Prevention in High-Risk Trauma Patients
NCT02455180	PHASE4	COMPLETED	Pharmacokinetics of Two Different High-dose Regimens of Intravenous Vitamin C in Critically Ill Patients
NCT02584335	PHASE4	TERMINATED	To Evaluate Reduction of Pain in Wounds Treatment Previously Applying Lidocaine Topical Solution vs Placebo
NCT02645279	PHASE4	UNKNOWN	Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates
NCT02864875	PHASE4	COMPLETED	Early Administration of Fibrinogen in Polytraumatized Patients With Hypofibrinogenemia: a Randomized Feasibility Trial
NCT03077204	PHASE4	COMPLETED	BIO4 Clinical Case Study: Cervical Spine
NCT03141502	PHASE4	UNKNOWN	The New Skin Stretching Device for Treatment of Limb Tension Wounds
NCT03235531	PHASE4	UNKNOWN	Assessment of Valproate on Ethanol Withdrawal
NCT03491644	PHASE4	COMPLETED	Restrictive vs. Liberal Oxygen Therapy for Trauma Patients
NCT03574376	PHASE4	UNKNOWN	Liposomal Bupivacaine Intercostal Nerve Block vs Thoracic Epidural for Regional Analgesia in Multiple Rib Fractures
NCT03781817	PHASE4	TERMINATED	Intranasal Versus Intravenous Ketamine for Procedural Sedation in Children With Non-operative Fractures
NCT03894800	PHASE4	COMPLETED	Determination of Analgesic Equipotent Doses of Inhaled Metoxyflurane vs. Intravenous Fentanyl
NCT04287803	PHASE4	COMPLETED	Prehospital Analgesia in Adults Using Inhaled Methoxyflurane : A Feasibility Study

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
EPTACOG ALFA (ACTIVATED)	4	6
CALCIUM GLUCONATE	4	3
ETOMIDATE	4	3
FENTANYL	4	3
PROPRANOLOL	4	3
ASCORBIC ACID	4	2
IRON SUCROSE	4	2
LACTIC ACID	4	2
METHOXYFLURANE	4	2
OXYGEN	4	2
SUFENTANIL	4	2
THIAMINE ION	4	2
VALPROIC ACID	4	2
VASOPRESSIN	4	2
ALBENDAZOLE	4	1
CODEINE	4	1
COLLAGENASE CLOSTRIDIUM HISTOLYTICUM	4	1
DALFAMPRIDINE	4	1
DEXKETOPROFEN	4	1
DIETHYLCARBAMAZINE	4	1
DRONABINOL	4	1
ENOXAPARIN SODIUM	4	1
EPOETIN ALFA	4	1
ESTRADIOL	4	1
ESTRADIOL VALERATE	4	1
FAMOTIDINE	4	1
FIBRINOGEN I 125	4	1
FLUDROCORTISONE ACETATE	4	1
FUROSEMIDE	4	1
GABAPENTIN	4	1