Nervous system injury

Summary

Nervous system injury (MONDO:0044745) is a disease with 3 GWAS associations across 17 studies and 3 clinical trials. A subtype of nervous system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 3
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	nervous system injury
Mondo ID	MONDO:0044745
EFO	EFO:0009490
MeSH	D020196
SNOMED CT	128239009
Anatomy (UBERON)	UBERON:0001016
Is cancer (heuristic)	no

Also known as: craniocervical Injuries · craniocervical injury · Injuries, craniocervical · Injuries, nervous system · injury of nervous system · injury, craniocervical · injury, nervous system · nervous system Injuries · nervous system injury · nervous system trauma · nervous system Traumas

Data availability: 3 GWAS associations (17 studies).

Disease family

This is a subtype of nervous system disorder. 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 › nervous system injury

Related subtypes (71): congenital nervous system disorder, central nervous system disorder, autoimmune disorder of the nervous system, cranial nerve neuropathy, peripheral nervous system disorder, neuronitis, diplegia of upper limb, retinal disorder, developmental disability, restless legs syndrome, movement disorder, toxic encephalopathy, Barre-Lieou syndrome, Gerstmann syndrome, drug-induced akathisia, drug-induced dyskinesia, stiff-person syndrome, Worster-Drought syndrome, corneal-cerebellar syndrome, pachygyria-intellectual disability-epilepsy syndrome, porencephaly-cerebellar hypoplasia-internal malformations syndrome, symmetrical thalamic calcifications, neonatal brainstem dysfunction, primary orthostatic hypotension, rippling muscle disease with myasthenia gravis, periodic paralysis, qualitative or quantitative protein defects in neuromuscular diseases, specific learning disability, cerebellar hypoplasia-tapetoretinal degeneration syndrome, locked-in syndrome, dopa-responsive dystonia, idiopathic recurrent stupor, chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, spontaneous periodic hypothermia, Sydenham chorea, duplication of the pituitary gland, Balint syndrome, paraneoplastic neurologic syndrome, persistent idiopathic facial pain, serotonin syndrome, hypothalamic adipsic hypernatraemia syndrome, exercise-induced malignant hyperthermia, perineural cyst, neuromuscular disease, neuromyelitis optica, AL amyloidosis, AA amyloidosis, neuroleptic malignant syndrome, infectious disorder of the nervous system, central nervous system malformation, synaptopathy, nervous system neoplasm, sensory ganglionopathy, radiculitis, wet beriberi, perceptual disorders, prepubertal anorexia nervosa, neurocutaneous syndrome, neurovascular disorder, Wallerian degeneration, neurosarcoidosis, neuroendocrine disorder, tubulinopathy, atactic disorder, hereditary neurological disease, meningitis-retention syndrome, KIF1A related neurological disorder, neurological pain disorder, neurodevelopmental disorder, post 5-alpha-reductase inhibitors treatment syndrome, post-selective serotonin reuptake inhibitor sexual dysfunction

Subtypes (2): brain injury, spinal cord injury

Genetics & variants

GWAS landscape

3 GWAS associations across 17 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs370798830	4e-12	LINC01565 - RPN1	G	1.85
rs867660168	2e-11	LINC02542	C	1.95
rs143334461	4e-08	MMRN1 - CCSER1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476951	Verma A	2024	18,514	297,154	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476960	Verma A	2024	9,537	306,131	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479289	Verma A	2024	5,451	437,651	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476950	Verma A	2024	3,599	51,906	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481221	Verma A	2024	3,599	51,906	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90038639	Donertas HM	2021	2,646	481,952	Common genetic associations between age-related diseases.
GCST90476959	Verma A	2024	2,017	53,488	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481213	Verma A	2024	2,017	53,488	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476949	Verma A	2024	1,726	27,588	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479288	Verma A	2024	1,565	117,808	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

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	3

MAF distribution

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

Functional consequences

Consequence	Count
intron_variant	2
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs370798830	3	128606904	G>A	0.001	intron_variant	LINC01565 - RPN1	4e-12	Tier 4: intronic/intergenic
rs867660168	6	82140877	C>A	0	intron_variant	LINC02542	2e-11	Tier 4: intronic/intergenic
rs143334461	4	90003275	G>A,T		intergenic_variant	MMRN1 - CCSER1	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 for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

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

Clinical trials & evidence

Clinical trials

Clinical trials: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03517761	Not specified	RECRUITING	Use of Bone Marrow Concentrate for Treatment of Alar, Accessory, and Transverse Ligament Injuries
NCT04770571	Not specified	ENROLLING_BY_INVITATION	Posterior Cervical Fixation Study
NCT03557606	Not specified	WITHDRAWN	Case Series on Using Bone Marrow Concentrate for Alar Ligament Injuries

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CHEMBL443232	0	1