Demyelinating disease of central nervous system

Summary

Demyelinating disease of central nervous system (MONDO:0020800) is a disease with 2 GWAS associations across 6 studies. A subtype of demyelinating disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	demyelinating disease of central nervous system
Mondo ID	MONDO:0020800
ICD-10-CM	G35-G37
NCIT	C34526
SNOMED CT	6118003
UMLS	C0011302
MedGen	3719
Is cancer (heuristic)	no

Also known as: demyelinating CNS disease · demyelinating disease central nervous system (CNS) · demyelinating disease of central nervous system · demyelinating disorder of central nervous system · demyelinating disorders of the central nervous system

Data availability: 2 GWAS associations (6 studies).

Disease family

This is a subtype of demyelinating 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 body system or component › nervous system disorder › central nervous system disorder › neurodegenerative disease › demyelinating disease › demyelinating disease of central nervous system

Related subtypes (7): demyelinating polyneuropathy, central pontine myelinolysis, polyradiculoneuropathy, Schilder disease, Balo concentric sclerosis, acute disseminated encephalomyelitis, boylan dew greco syndrome

Subtypes (2): multiple sclerosis, myelin oligodendrocyte glycoprotein antibody-associated disease

Genetics & variants

GWAS landscape

2 GWAS associations across 6 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs6920338	2e-11	TSBP1, TSBP1-AS1	?	0.62
rs149178724	4e-08	LINC02841	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473315	UK Biobank Whole-Genome Sequencing Consortium	2025	2,813	455,627	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90473317	UK Biobank Whole-Genome Sequencing Consortium	2025	636	457,804	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90481873	Verma A	2024	338	450,583	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435922	Zhou W	2018	255	395,209	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651659	Liu TY	2025	188	218,635	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90837463	Koyama S	2025	0	0	Genetics and context for precision health in Greater Boston.

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	2

MAF distribution

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

Functional consequences

Consequence	Count
intron_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs6920338	6	32320312	C>A,G,T	0.05	intron_variant	TSBP1, TSBP1-AS1	2e-11	Tier 4: intronic/intergenic
rs149178724	19	31541776	CT>C,CTT,CTTT	0.05	intron_variant	LINC02841	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.