Fungal infectious disease

Summary

Fungal infectious disease (MONDO:0002041) is a disease (an umbrella term covering 18 Mondo subtypes) with 8 GWAS associations across 13 studies and 4 clinical trials. Top therapeutic interventions include water. A subtype of infectious disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 18 Mondo subtypes
• GWAS associations: 8
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	fungal infectious disease
Mondo ID	MONDO:0002041
MeSH	D009181
DOID	DOID:1564
ICD-10-CM	B35-B49
NCIT	C3245
SNOMED CT	3218000
UMLS	C0026946
MedGen	6486
Is cancer (heuristic)	no

Also known as: Fungi caused disease or disorder · Fungi disease or disorder · Fungi infection · Fungi infectious disease · infections, Fungi · mycosis

Data availability: 8 GWAS associations (13 studies).

Disease family

This is a subtype of infectious disease. 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 etiologic mechanism › disease of primarily extrinsic mechanism › infectious disease › fungal infectious disease

Related subtypes (34): infective endocarditis, hirudiniasis, 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

Subtypes (18): cutaneous mycosis, systemic mycosis, fungal esophagitis, opportunistic mycosis, fungal gastritis, fungal lung infectious disease, Pneumocystis infectious disease, sporotrichosis, fungal meningitis, fungal myositis, scedosporiosis, fungal infection of eye, mycotic endocarditis, mycotoxicosis, alternariosis, invasive scopulariopsis infection, emergomycosis, fungal discitis

Genetics & variants

GWAS landscape

8 GWAS associations across 13 studies. Top hits map to 5 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs7656	3e-47	HLA-DQB1-AS1, HLA-DQB1	T	0.48
rs113993960	3e-22	CFTR	?	3.73
chr16:31045852	5e-13		CAA	0.05
rs965547506	1e-11	KIAA1217	C	2.93
rs534455944	2e-11	NPAS3	T	3.84
chr6:32479257	3e-11		C	0.09
rs532894844	2e-08	LINC00702 - LINC00703	?
chr4:72545822	3e-08		A	2.36

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473078	UK Biobank Whole-Genome Sequencing Consortium	2025	44,459	413,981	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667750	UK Biobank Whole-Genome Sequencing Consortium	2025	44,459	413,981	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477160	Verma A	2024	3,022	443,555	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473079	UK Biobank Whole-Genome Sequencing Consortium	2025	1,208	8,405	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477159	Verma A	2024	807	119,514	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479770	Verma A	2024	807	119,514	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473076	UK Biobank Whole-Genome Sequencing Consortium	2025	716	8,499	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90651557	Liu TY	2025	569	223,436	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90473088	UK Biobank Whole-Genome Sequencing Consortium	2025	515	457,925	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90473077	UK Biobank Whole-Genome Sequencing Consortium	2025	390	2,473	Whole-genome sequencing of 490,640 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	6

MAF distribution

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

Functional consequences

Consequence	Count
unknown	3
intergenic_variant	2
3_prime_UTR_variant	1
inframe_insertion	1
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7656	6	32660181	T>C,G	0.145	3_prime_UTR_variant	HLA-DQB1-AS1, HLA-DQB1	3e-47	Tier 2: splice/UTR
rs113993960	7	117559591	ATCT>A,ATCTTCT	0.05	inframe_insertion	CFTR	3e-22	Tier 1: coding
chr16:31045852							5e-13	Tier 4: intronic/intergenic
rs965547506	10	24171811	C>T	0	intergenic_variant	KIAA1217	1e-11	Tier 4: intronic/intergenic
rs534455944	14	33728047	T>C	0	intron_variant	NPAS3	2e-11	Tier 4: intronic/intergenic
chr6:32479257							3e-11	Tier 4: intronic/intergenic
rs532894844	10	4341969	ACTCATG>A		intergenic_variant	LINC00702 - LINC00703	2e-08	Tier 4: intronic/intergenic
chr4:72545822							3e-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

7 approved, 8 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Amphotericin B	Approved (phase 4)
Clotrimazole	Approved (phase 4)
Itraconazole	Approved (phase 4)
Miconazole	Approved (phase 4)
Posaconazole	Approved (phase 4)
Triamcinolone Acetonide	Approved (phase 4)
Voriconazole	Approved (phase 4)
Azithromycin	Phase 3 (in late-stage trials)
Caspofungin	Phase 3 (in late-stage trials)
Fluconazole	Phase 3 (in late-stage trials)
Isavuconazole	Phase 3 (in late-stage trials)
Metronidazole	Phase 3 (in late-stage trials)
Micafungin	Phase 3 (in late-stage trials)
Polihexanide	Phase 3 (in late-stage trials)
Rifabutin	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Fosmanogepix, Natamycin, Olorofim.

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07029516	PHASE3	RECRUITING	Study to Assess Efficacy, Safety and Tolerability of a Nail Patch in Patients With Nail Fragility, Mychosis, Psoriasis
NCT07199998	Not specified	RECRUITING	Impact of Internal Menstrual Protections on Immunity and Vaginal Microbiota
NCT02859831	Not specified	COMPLETED	Sautour PHRC IR 2008
NCT02913365	Not specified	UNKNOWN	Etiologies, Investigations and Outcomes of Patients Presenting With Hemoptysis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
WATER	4	1