Infectious disease

Summary

Infectious disease (MONDO:0005550) is a disease (an umbrella term covering 35 Mondo subtypes) with 8 GWAS associations across 43 studies and 1,113 clinical trials. Top therapeutic interventions include vancomycin, ceftaroline fosamil, and cefuroxime. A subtype of disease of primarily extrinsic mechanism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 35 Mondo subtypes
• GWAS associations: 8
• Clinical trials: 1,113

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	infectious disease
Mondo ID	MONDO:0005550
EFO	EFO:0005741
MeSH	D003141
DOID	DOID:0050117
ICD-10-CM	A00-B99
NCIT	C26726
SNOMED CT	40733004
UMLS	C0009450
MedGen	1057
Is cancer (heuristic)	no

Also known as: clinical infection · communicable disease · infection · infectious · infectious disease · infectious diseases and manifestations · infectious disorder · transmissible disease

Data availability: 8 GWAS associations (43 studies).

Disease family

An umbrella term covering 35 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of primarily extrinsic mechanism › infectious disease

Related subtypes (6): post-infectious disorder, poisoning, radiation-induced disorder, iatrogenic disease, occupational disorder, disease related to transplantation

Subtypes (35): infective endocarditis, hirudiniasis, fungal infectious disease, infectious peritonitis, epididymitis, viral infectious disease, bacterial infectious disease, parasitic infectious disease, abscess, Ciliophora infectious disease, hookworm infectious disease, infectious embryofetopathy, mycetoma, infectious disorder of the nervous system, ear infection, sexually transmitted disease, puerperal infection, Acanthamoeba infectious disease, infectious myositis, infective vaginitis, skin disorder caused by infection, respiratory tract infectious disorder, nail infection, infective arthritis, digestive system infectious disorder, nosocomial infection, eye infectious disorder, prosthesis-related infectious disease, vector-borne disease, coinfection, urinary tract infection, hemorrhagic fever, protothecosis, pythiosis, infectious disease with sepsis

Genetics & variants

GWAS landscape

8 GWAS associations across 43 studies. Top hits map to 2 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs7903146	1e-17	TCF7L2	C	0.04
rs187844901	8e-12	LINC02866	C	3.56
rs191571179	2e-11	U3 - GPC1	T	1.8
chr2:174541375	1e-08		T	2.13
chr9:5073770	3e-08		T	0.8
chr14:60727439	4e-08		T	1.8
chr7:36804981	4e-08		A	2.4

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477112	Verma A	2024	239,603	137,542	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475558	Verma A	2024	156,707	212,038	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90270866	Butler-Laporte G	2023	123,508	577,141	Increasing serum iron levels and their role in the risk of infectious diseases: a Mendelian randomization approach.
GCST90477111	Verma A	2024	65,978	35,696	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480969	Verma A	2024	65,978	35,696	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477108	Verma A	2024	43,803	54,128	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479759	Verma A	2024	43,803	54,128	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477109	Verma A	2024	31,497	17,486	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST011593	Butler-Laporte G	2020	31,455	125,820	Elevated body-mass index is associated with an increased risk of infectious disease admissions and mortality: a mendelian randomization study.
GCST90270868	Butler-Laporte G	2023	29,247	671,402	Increasing serum iron levels and their role in the risk of infectious diseases: a Mendelian randomization approach.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	7

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	2
unknown	4

Functional consequences

Consequence	Count
unknown	4
intron_variant	3

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7903146	10	112998590	C>G,T	0.29	intron_variant	TCF7L2	1e-17	Tier 4: intronic/intergenic
rs187844901	8	40142335	C>T	0	intron_variant	LINC02866	8e-12	Tier 4: intronic/intergenic
rs191571179	2	240406653	T>C	0.002	intron_variant	U3 - GPC1	2e-11	Tier 4: intronic/intergenic
chr2:174541375							1e-08	Tier 4: intronic/intergenic
chr9:5073770							3e-08	Tier 4: intronic/intergenic
chr14:60727439							4e-08	Tier 4: intronic/intergenic
chr7:36804981							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 or in trials for this disease

2 approved drugs — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Status
Fluocinolone Acetonide	Approved (phase 4)
Methylprednisolone Acetate	Approved (phase 4)

13 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Amoxicillin	Phase 3
Blood, Whole	Phase 3
Chlorhexidine	Phase 3
Ciprofloxacin	Phase 3
Isopropyl Alcohol	Phase 3
Azithromycin	Phase 2
Cefepime	Phase 2
Ceftolozane	Phase 2
Hydroxychloroquine	Phase 2
Lactobacillus Acidophilus	Phase 2
Meropenem	Phase 2
Piperacillin	Phase 2
Tazobactam	Phase 2

Clinical trials & evidence

Clinical trials

Clinical trials: 1,113.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	772
PHASE3	94
PHASE4	88
PHASE2	57
PHASE1	57
PHASE1/PHASE2	17
PHASE2/PHASE3	9
EARLY_PHASE1	6

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04876131	PHASE4	RECRUITING	Single Dose Intravenous Antibiotics for Complicated Urinary Tract Infections in Children
NCT05045612	PHASE4	RECRUITING	Antibiotic Therapy in Viral Airway Infections
NCT05758532	PHASE4	RECRUITING	Non-specific Effects of a Modified Measles Vaccination Schedule to Prevent Allergy and Unrelated Infection in Children
NCT05763693	PHASE4	NOT_YET_RECRUITING	Vitality in Infants Via Azithromycin for Neonates Trial
NCT05770622	PHASE4	RECRUITING	Improving Therapeutic Drug Monitoring and Dosing for Vancomycin in Young Infants With Infections (VANCAPP) (Part 2)
NCT06055712	PHASE4	ENROLLING_BY_INVITATION	Antibiotic Prophylaxis in Pediatric Open Fractures
NCT06161870	PHASE4	RECRUITING	Clinical Study of Individualized Vancomycin Dosing Based on Population PK Model
NCT06384651	PHASE4	RECRUITING	Intraosseous vs. Intravenous Vancomycin Administration in Total Ankle Arthroplasty
NCT06811727	PHASE4	NOT_YET_RECRUITING	CONTinuous Infusion Versus Intermittent Dosing of ceftaZidime/AVIbactam in Critically Ill Patients
NCT07273071	PHASE4	NOT_YET_RECRUITING	Individualized Multiplex Pathophysiological Treatment of Severe Acute Infections: N-Acetylcysteine
NCT07484633	PHASE4	NOT_YET_RECRUITING	A Study to Compare the Efficacy and Safety of Extended and Intermittent Infusion of Beta-lactams in Critically Ill Paediatric Patients
NCT07556107	PHASE4	NOT_YET_RECRUITING	The Vancomycin Piperacillin/Tazobactam (VPT) Patient Safety Trial (VPS)
NCT00067730	PHASE4	COMPLETED	A Safety Evaluation of Drotrecogin Alfa (Activated) in Patients With Blood Cancer, Severe Infection Related to Bone Marrow Transplantation
NCT00140335	PHASE4	COMPLETED	Evaluation of a Handwashing Promotion Program in Chinese Elementary Schools
NCT00173901	PHASE4	UNKNOWN	Adverse Drug Reactions of Different Brands of Ceftazidime Injection
NCT00176124	PHASE4	COMPLETED	Leukocyte Depletion of Autologous Whole Blood
NCT00198601	PHASE4	COMPLETED	Determination of Gentamicin Dosing in Neonatal Patients
NCT00347828	PHASE4	UNKNOWN	Effectiveness Study of Zymar Versus Vigamox for Preoperative Sterilization of the Ocular Surface After Loading Dose
NCT00360607	PHASE4	COMPLETED	A Comparative Phase IV Study Evaluating Efficacy & Safety Of Magnex(Cefoperazone-Sulbactam) In Intraabdominal Infections
NCT00407147	PHASE4	TERMINATED	Procalcitonin Level to Discontinue Antibiotics on ICU Patients With no Obvious Site of Infection
NCT00445094	PHASE4	COMPLETED	A De-Escalating Strategy for Antibiotic Treatment of Pneumonia in The Medical Intensive Care Unit (0787B-092)
NCT00454272	PHASE4	COMPLETED	Comparison of Teicoplanin and Vancomycin in Initial Empirical Antibiotic Regimen for Febrile Neutropenic Patients
NCT00455364	PHASE4	TERMINATED	Voriconazole as Prophylactic Therapy in Lung Transplant Recipients
NCT00480376	PHASE4	UNKNOWN	Ofloxacin vs. Gentamicin as Prophylaxis Prior Transrectal Biopsy of Prostate
NCT00497341	PHASE4	COMPLETED	Antibiotic Prophylaxis in Total Knee Prosthesis
NCT00522821	PHASE4	COMPLETED	Treatment of Deficient Subclass or Anti-polysaccharide Antibody Response
NCT00533988	PHASE4	COMPLETED	Central Venous Catheter-Related Infection
NCT00599261	PHASE4	COMPLETED	MAKE IT CLEAN, Impact of Pocket Revision on the Rate of Infection and Other Complications in Patients Requiring Pocket Manipulation for Generator Replacement and/or Lead Replacement or Revision: A Prospective Randomized Study
NCT00638677	PHASE4	COMPLETED	Bifidobacterium Lactis BB12 and Xylitol Delivered With a Novel Slow-release Pacifier
NCT00665873	PHASE4	COMPLETED	Antibiotic Therapy is Not Necessary to Implant Totally Implantable Venous Access Devices: Randomized Prospective Study
NCT00760032	PHASE4	WITHDRAWN	Lipopolysaccharide Binding Protein and Development of Infectious Events in Cirrhotic Patients
NCT00947089	PHASE4	COMPLETED	Role of Oxidized Regenerated Cellulose (ORC) Applied to Dirty Surgical Wounds
NCT00965848	PHASE4	COMPLETED	A Safety and Efficacy Study of Doripenem in Participants With Nosocomial Pneumonia, Complicated Intra-Abdominal Infections and Urinary Tract Infections
NCT01021995	PHASE4	COMPLETED	Echinacea Safety Study
NCT01064947	PHASE4	COMPLETED	Safety and Efficacy Study of Altabax Ointment in the Treatment of Secondarily Infected Atopic Dermatitis
NCT01142934	PHASE4	UNKNOWN	Trial on the Efficacy of Tegaderm Chlorhexidine Gluconate (CHG) in Reducing Catheter Related Bloodstream Infections
NCT01174212	PHASE4	COMPLETED	Effect of Prophylactic Antibiotics on Intra-Operative Culture Results
NCT01198925	PHASE4	COMPLETED	Assessment of the Optimal Dosing of Piperacillin-tazobactam in Intensive Care Unit Patients: Extended Versus Continuous Infusion
NCT01293071	PHASE4	COMPLETED	Effect of Antibiotic Rotation in the ICU on the Prevalence of Antibiotic Resistant Gram-negative Colonisation
NCT01298843	PHASE4	COMPLETED	Study of Blood Levels of Ceftaroline Fosamil in Children Who Are Receiving Antibiotic Therapy in the Hospital

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
VANCOMYCIN	4	20
CEFTAROLINE FOSAMIL	4	14
CEFUROXIME	4	10
CEFAZOLIN	4	9
ERTAPENEM	4	8
LEVOFLOXACIN ANHYDROUS	4	8
PIPERACILLIN	4	7
POVIDONE-IODINE	4	6
CILASTATIN	4	5
CIPROFLOXACIN	4	5
CLAVULANIC ACID	4	5
DAPTOMYCIN	4	5
GENTAMICIN	4	5
TAZOBACTAM	4	5
VORICONAZOLE	4	5
CEFTRIAXONE	4	4
IMIPENEM ANHYDROUS	4	4
OFLOXACIN	4	4
ALCOHOL	4	3
AMPHOTERICIN B	4	3
ANIDULAFUNGIN	4	3
CEFTAZIDIME	4	3
TIGECYCLINE	4	3
TRIMETHOPRIM	4	3
AMOXICILLIN	4	2
AVIBACTAM SODIUM	4	2
AZTREONAM	4	2
CASPOFUNGIN	4	2
CASPOFUNGIN ACETATE	4	2
CEFOPERAZONE	4	2