Argyrophilic grain disease

Summary

Argyrophilic grain disease (MONDO:0700351) is a disease with 13 GWAS associations across 1 studies. A subtype of tauopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 13

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	argyrophilic grain disease
Mondo ID	MONDO:0700351
UMLS	C0338460
MedGen	572581
Is cancer (heuristic)	no

Also known as: AGD

Data availability: 13 GWAS associations (1 study).

Disease family

This is a subtype of tauopathy. 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 › nervous system disorder › central nervous system disorder › neurodegenerative disease › tauopathy › argyrophilic grain disease

Related subtypes (1): Alzheimer disease

Genetics & variants

GWAS landscape

13 GWAS associations across 1 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
rs11595141	5e-08	SVIL - JCAD	C	4.3
rs529360114	8e-08	SLX9	A	5.1
rs7019089	8e-08	PGM5	A	0.56
rs78182510	9e-08	RPLP0P2, RPLP0P2	A	2.12
rs141081800	1e-07	RNU7-159P - MMP13	G	4.16
rs118038680	1e-07	RPL6P14 - RNU6-351P	C	3.34
rs187486988	2e-07	NBAS	G	2.96
rs140769784	2e-07	PLPPR1 - ACNATP	T	3.5
rs79794400	3e-07	SLC9A9	T	4.06
rs72732628	7e-07	RNU6-449P - UNC13C	C	2.13
rs527654945	7e-07	CCDC80	C	3.32
rs12499648	7e-07	SYNPO2	A	4.33
rs147403806	8e-07	CALN1	T	4.49

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90728620	Mitsumori R	2025	214	12,405	Genome and transcriptome-wide association studies identify multiple novel loci for dementia with grain in Japanese.

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	1
Tier 4: intronic/intergenic	11

MAF distribution

Bucket	Variants
common (>=0.05)	3
low_freq (0.01-0.05)	10
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	7
non_coding_transcript_exon_variant	2
intergenic_variant	2
regulatory_region_variant	1
3_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs11595141	10	29839680	T>C	0.015	non_coding_transcript_exon_variant	SVIL - JCAD	5e-08	Tier 4: intronic/intergenic
rs529360114	21	44971302	G>A,C,T	0.012	intron_variant	SLX9	8e-08	Tier 4: intronic/intergenic
rs7019089	9	68492103	A>C,G	0.483	intron_variant	PGM5	8e-08	Tier 4: intronic/intergenic
rs78182510	11	61638614	G>A	0.108	non_coding_transcript_exon_variant	RPLP0P2, RPLP0P2	9e-08	Tier 4: intronic/intergenic
rs141081800	11	102910239	A>G	0.013	intergenic_variant	RNU7-159P - MMP13	1e-07	Tier 4: intronic/intergenic
rs118038680	4	104947259	T>C	0.025	intron_variant	RPL6P14 - RNU6-351P	1e-07	Tier 4: intronic/intergenic
rs187486988	2	15200548	A>G	0.028	intron_variant	NBAS	2e-07	Tier 4: intronic/intergenic
rs140769784	9	101325726	C>T	0.017	intergenic_variant	PLPPR1 - ACNATP	2e-07	Tier 4: intronic/intergenic
rs79794400	3	143464397	G>T	0.016	intron_variant	SLC9A9	3e-07	Tier 4: intronic/intergenic
rs72732628	15	53831981	T>C	0.087	regulatory_region_variant	RNU6-449P - UNC13C	7e-07	Tier 3: regulatory
rs527654945	3	112610464	T>C	0.02	intron_variant	CCDC80	7e-07	Tier 4: intronic/intergenic
rs12499648	4	119032439	T>A	0.011	3_prime_UTR_variant	SYNPO2	7e-07	Tier 2: splice/UTR
rs147403806	7	72332827	C>T	0.011	intron_variant	CALN1	8e-07	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.