Trigeminal nerve disorder

Summary

Trigeminal nerve disorder (MONDO:0003543) is a disease with 12 GWAS associations across 11 studies and 1 clinical trial. A subtype of cranial nerve neuropathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 12
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	trigeminal nerve disorder
Mondo ID	MONDO:0003543
EFO	EFO:0009569
MeSH	D020433
DOID	DOID:561
NCIT	C26952
SNOMED CT	64309007
UMLS	C0152177
MedGen	101823
Anatomy (UBERON)	UBERON:0001645
Is cancer (heuristic)	no

Also known as: disease of trigeminal nerve · disease or disorder of trigeminal nerve · disorder of trigeminal nerve · trigeminal nerve disease · trigeminal nerve disease or disorder · trigeminal nerve disorder

Data availability: 12 GWAS associations (11 studies).

Disease family

This is a subtype of cranial nerve neuropathy. 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 › cranial nerve neuropathy › trigeminal nerve disorder

Related subtypes (16): vestibulocochlear nerve disorder, ocular motility disease, hypoglossal nerve disorder, facial nerve disorder, optic nerve disorder, cranial nerve neoplasm, accessory nerve disorder, glossopharyngeal nerve disorder, olfactory nerve disorder, cranial nerve palsy, third cranial nerve disorder, pseudobulbar palsy, trochlear nerve disorder, jaw-winking syndrome, cranial neuralgia, abducens nerve disorder

Subtypes (4): trigeminal nerve neoplasm, ophthalmic herpes zoster, trigeminal neuralgia, trigeminal autonomic cephalalgia

Genetics & variants

GWAS landscape

12 GWAS associations across 11 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
rs182465936	2e-13	TENT2	C	1.76
rs547001128	4e-13	GPX6	G	1.79
rs144604256	1e-12	LINC02103 - RNU6-909P	T	2.81
rs150202160	2e-12	DCHS2	A	2.17
rs529486807	3e-12	KIF26B	G	3.77
rs548798366	7e-12	VSTM2L - RN7SKP185	C	3.11
rs10190169	8e-12	LINC01122	C	1.64
rs527623473	9e-12	CTNND1	C	1.2
rs192701796	3e-11	LINC02994	G	2.94
rs140830175	4e-11	LINC01562	C	2.08
rs566133650	5e-11	RBMXP1 - PRR11P1	T	2.07
rs1409201012	4e-09	NIFK-AS1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473335	UK Biobank Whole-Genome Sequencing Consortium	2025	3,129	455,311	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477591	Verma A	2024	2,613	444,975	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079837	Backman JD	2021	1,034	385,495	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083823	Backman JD	2021	1,034	385,495	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90651371	Liu TY	2025	855	222,707	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90477590	Verma A	2024	659	119,901	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480030	Verma A	2024	659	119,901	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435947	Zhou W	2018	465	394,067	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90481888	Verma A	2024	331	58,998	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90043764	Jiang L	2021	293	456,055	A generalized linear mixed model association tool for biobank-scale data.

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	12

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	11
unknown	1

Functional consequences

Consequence	Count
intron_variant	7
intergenic_variant	3
synonymous_variant	1
non_coding_transcript_exon_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs182465936	5	79670569	C>A,T	0.001	intron_variant	TENT2	2e-13	Tier 4: intronic/intergenic
rs547001128	6	28521696	G>A,C,T	0.003	intergenic_variant	GPX6	4e-13	Tier 4: intronic/intergenic
rs144604256	5	28403466	T>C	0	intergenic_variant	LINC02103 - RNU6-909P	1e-12	Tier 4: intronic/intergenic
rs150202160	4	154298098	A>G	0	synonymous_variant	DCHS2	2e-12	Tier 4: intronic/intergenic
rs529486807	1	245619217	G>T	0.001	intron_variant	KIF26B	3e-12	Tier 4: intronic/intergenic
rs548798366	20	37953575	C>T	0	intergenic_variant	VSTM2L - RN7SKP185	7e-12	Tier 4: intronic/intergenic
rs10190169	2	58627807	C>G,T	0.002	intron_variant	LINC01122	8e-12	Tier 4: intronic/intergenic
rs527623473	11	57767057	C>T	0.007	intron_variant	CTNND1	9e-12	Tier 4: intronic/intergenic
rs192701796	4	84172382	G>A	0.002	intron_variant	LINC02994	3e-11	Tier 4: intronic/intergenic
rs140830175	1	51197120	C>T	0.001	non_coding_transcript_exon_variant	LINC01562	4e-11	Tier 4: intronic/intergenic
rs566133650	6	48555057	T>A,C	0.001	intron_variant	RBMXP1 - PRR11P1	5e-11	Tier 4: intronic/intergenic
rs1409201012	2	121710266	G>A		intron_variant	NIFK-AS1	4e-09	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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05810428	Not specified	ENROLLING_BY_INVITATION	Artificial Intelligence to Predict Surgical Outcomes and Assess Pain Neuromodulation in Trigeminal Neuralgia Subjects