Protozoa infectious disease

Summary

Protozoa infectious disease (MONDO:0002428) is a disease (an umbrella term covering 15 Mondo subtypes) with 17 GWAS associations across 7 studies. A subtype of parasitic infectious disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 15 Mondo subtypes
• GWAS associations: 17

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	protozoa infectious disease
Mondo ID	MONDO:0002428
MeSH	D011528
DOID	DOID:2789
ICD-10-CM	B50-B64
NCIT	C34953
Is cancer (heuristic)	no

Also known as: Mastigophora infectious disease · protozoal infection · sarcomastigophora infectious disease

Data availability: 17 GWAS associations (7 studies).

Disease family

This is a subtype of parasitic 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 › parasitic infectious disease › protozoa infectious disease

Related subtypes (16): parasitic Ichthyosporea infectious disease, helminthiasis, coccidioidomycosis, cryptococcosis, microsporidiosis, Strongylida infectious disease, distomatosis, parasitic myositis, demodicidosis, cutaneous larva migrans, amoebiasis due to Entamoeba histolytica, amoebiasis due to free-living amoebae, parasitic eye infection, parasitic intestinal disorder, parasitemia, parasitic skin disorder

Subtypes (15): primary amebic meningoencephalitis, granulomatous amebic encephalitis, trypanosomiasis, giardiasis, protozoal dysentery, trichomoniasis, malaria, Acanthamoeba keratitis, amebiasis, babesiosis, balantidiasis, coccidiosis, theileriasis, leishmaniasis, dientamoebiasis

Genetics & variants

GWAS landscape

17 GWAS associations across 7 studies. Top hits map to 9 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs542296862	1e-14	GORAB, GORAB-AS1	T	4.59
rs542195264	1e-12	GRM8	C	3.2
rs577891520	2e-12	CPAMD8P1 - U3	C	4.87
rs536082018	4e-12	PSAT1 - MTND2P8	A	4.84
rs534954106	7e-12	KCNQ1	C	2.46
rs141913574	1e-11	WBP1L	G	3.82
rs532660512	2e-11	TBCD	G	5.59
rs115077293	2e-11	MTCL1	C	2.55
rs531530039	2e-11	SCAF4 - TPT1P1	C	4.43
rs565706665	2e-11	ST3GAL6	G	3.38
rs192680874	2e-11	UNC5C-AS1 - RPL30P6	T	3.72
rs186467348	3e-11	H3P34 - FOLH1B	A	3.33
rs116654145	3e-11	ITPR1	C	3.07
chrX:107117072	2e-08		A	2.69
chr17:21247901	3e-08		A	4.58
chr1:33371942	4e-08		A	4.52
chr2:186996594	4e-08		A	3.38

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473090	UK Biobank Whole-Genome Sequencing Consortium	2025	1,067	457,373	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667782	UK Biobank Whole-Genome Sequencing Consortium	2025	1,067	457,373	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90479771	Verma A	2024	701	119,109	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481468	Verma A	2024	701	119,109	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473013	UK Biobank Whole-Genome Sequencing Consortium	2025	506	457,934	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90481469	Verma A	2024	270	450,436	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473089	UK Biobank Whole-Genome Sequencing Consortium	2025	227	8,988	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	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	16

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	13
unknown	4

Functional consequences

Consequence	Count
intron_variant	9
unknown	4
intergenic_variant	3
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs542296862	1	170532431	T>C	0	intron_variant	GORAB, GORAB-AS1	1e-14	Tier 4: intronic/intergenic
rs542195264	7	126874803	C>A,T	0.001	intron_variant	GRM8	1e-12	Tier 4: intronic/intergenic
rs577891520	7	10074780	C>T	0	intron_variant	CPAMD8P1 - U3	2e-12	Tier 4: intronic/intergenic
rs536082018	9	78520062	A>G	0	intron_variant	PSAT1 - MTND2P8	4e-12	Tier 4: intronic/intergenic
rs534954106	11	2794804	C>A	0.001	intron_variant	KCNQ1	7e-12	Tier 4: intronic/intergenic
rs141913574	10	102807231	G>A,T	0	intron_variant	WBP1L	1e-11	Tier 4: intronic/intergenic
rs532660512	17	82870096	G>A,T	0.001	intron_variant	TBCD	2e-11	Tier 4: intronic/intergenic
rs115077293	18	8784557	C>A,T	0.001	missense_variant	MTCL1	2e-11	Tier 1: coding
rs531530039	21	31761124	C>T	0	intergenic_variant	SCAF4 - TPT1P1	2e-11	Tier 4: intronic/intergenic
rs565706665	3	98792766	G>A	0	intron_variant	ST3GAL6	2e-11	Tier 4: intronic/intergenic
rs192680874	4	95611059	T>C	0	intergenic_variant	UNC5C-AS1 - RPL30P6	2e-11	Tier 4: intronic/intergenic
rs186467348	11	89516354	A>G	0.001	intergenic_variant	H3P34 - FOLH1B	3e-11	Tier 4: intronic/intergenic
rs116654145	3	4700523	C>T	0.001	intron_variant	ITPR1	3e-11	Tier 4: intronic/intergenic
chrX:107117072							2e-08	Tier 4: intronic/intergenic
chr17:21247901							3e-08	Tier 4: intronic/intergenic
chr1:33371942							4e-08	Tier 4: intronic/intergenic
chr2:186996594							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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.