Multiple sclerosis, susceptibility to, 3

Summary

Multiple sclerosis, susceptibility to, 3 (MONDO:0012957) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	multiple sclerosis, susceptibility to, 3
Mondo ID	MONDO:0012957
OMIM	612595
UMLS	C2675477
MedGen	390807
Is cancer (heuristic)	no

Also known as: MS3 · multiple sclerosis, susceptibility to, 3

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › multiple sclerosis, susceptibility to › multiple sclerosis, susceptibility to, 3

Related subtypes (4): multiple sclerosis, susceptibility to, 2, multiple sclerosis, susceptibility to, 4, multiple sclerosis, susceptibility to, 5, multiple sclerosis, susceptibility to 1

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
224841	NM_002185.5(IL7R):c.361dup (p.Ile121fs)	IL7R	Pathogenic	reviewed by expert panel

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
IL7R	Orphanet:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
IL7R	Orphanet:39041	Omenn syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
IL7R	HGNC:6024	ENSG00000168685	P16871	Interleukin-7 receptor subunit alpha	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
IL7R	Interleukin-7 receptor subunit alpha	Receptor for interleukin-7.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Antibody/Immunoglobulin	1	29.2×	0.034

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
IL7R	Antibody/Immunoglobulin	yes		Hempt_rcpt_S_F1_CS, FN3_dom, Ig-like_fold

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
granulocyte	1
lymph node	1
right lung	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
IL7R	220	ubiquitous	marker	right lung, granulocyte, lymph node

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IL7R	3,412

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
IL7R	P16871	8

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Interleukin-7 signaling	1	317.2×	0.009	IL7R
Cargo recognition for clathrin-mediated endocytosis	1	104.8×	0.012	IL7R
Clathrin-mediated endocytosis	1	85.2×	0.012	IL7R

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of DNA recombination	1	4213.0×	0.003	IL7R
negative regulation of T cell mediated cytotoxicity	1	2106.5×	0.003	IL7R
interleukin-7-mediated signaling pathway	1	2106.5×	0.003	IL7R
negative regulation of T cell apoptotic process	1	1685.2×	0.003	IL7R
positive regulation of receptor signaling pathway via STAT	1	1685.2×	0.003	IL7R
positive regulation of T cell differentiation in thymus	1	1532.0×	0.003	IL7R
T cell mediated cytotoxicity	1	1123.5×	0.003	IL7R
cellular homeostasis	1	802.5×	0.003	IL7R
lymph node development	1	802.5×	0.003	IL7R
regulation of cell size	1	766.0×	0.003	IL7R
B cell homeostasis	1	561.7×	0.004	IL7R
B cell proliferation	1	481.5×	0.004	IL7R
T cell homeostasis	1	455.5×	0.004	IL7R
positive regulation of receptor signaling pathway via JAK-STAT	1	432.1×	0.004	IL7R
T cell differentiation in thymus	1	411.0×	0.004	IL7R
hemopoiesis	1	267.5×	0.006	IL7R
cell morphogenesis	1	157.5×	0.009	IL7R
defense response to Gram-positive bacterium	1	127.7×	0.010	IL7R
gene expression	1	79.9×	0.016	IL7R
cell surface receptor signaling pathway	1	64.1×	0.019	IL7R
immune response	1	47.1×	0.024	IL7R
positive regulation of gene expression	1	38.7×	0.028	IL7R
positive regulation of cell population proliferation	1	33.6×	0.031	IL7R
signal transduction	1	16.1×	0.062	IL7R

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
IL7R	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	IL7R
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
IL7R	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.