Asthma-related traits, susceptibility to, 7

Summary

Asthma-related traits, susceptibility to, 7 (MONDO:0012771) 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	asthma-related traits, susceptibility to, 7
Mondo ID	MONDO:0012771
OMIM	611960
UMLS	C2677770
MedGen	394362
Is cancer (heuristic)	no

Also known as: ASRT7 · asthma-related traits, susceptibility to, 7 · asthma-related traits, susceptibility to, type 7 · CHI3L1 inherited susceptibility to asthma · inherited susceptibility to asthma caused by mutation in CHI3L1

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › inherited susceptibility to asthma › asthma-related traits, susceptibility to, 7

Related subtypes (8): asthma-related traits, susceptibility to, 1, asthma-related traits, susceptibility to, 2, asthma-related traits, susceptibility to, 3, asthma-related traits, susceptibility to, 4, asthma-related traits, susceptibility to, 5, asthma-related traits, susceptibility to, 6, asthma-related traits, susceptibility to, 8, asthma, aspirin-induced, susceptibility to

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 risk factor

ClinVar	Variant (HGVS)	Gene	Classification	Review
8112	NC_000001.11:g.203186754G>C	CHI3L1	risk factor	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

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

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
CHI3L1	HGNC:1932	ENSG00000133048	P36222	Chitinase-3-like protein 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CHI3L1	Chitinase-3-like protein 1	Carbohydrate-binding lectin with a preference for chitin.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CHI3L1	Other/Unknown	no		Glyco_hydro18_cat, Chitinase_II/V-like_cat, GH_hydrolase_sf

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
cartilage tissue	1
pericardium	1
upper leg skin	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CHI3L1	271	ubiquitous	marker	pericardium, cartilage tissue, upper leg skin

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CHI3L1	82

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CHI3L1	P36222	13

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. 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
Neutrophil degranulation	1	23.1×	0.043	CHI3L1

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
response to interleukin-6	1	4213.0×	0.003	CHI3L1
chitin catabolic process	1	2808.7×	0.003	CHI3L1
positive regulation of peptidyl-threonine phosphorylation	1	1872.4×	0.003	CHI3L1
activation of NF-kappaB-inducing kinase activity	1	1685.2×	0.003	CHI3L1
response to tumor necrosis factor	1	624.1×	0.005	CHI3L1
response to interleukin-1	1	510.7×	0.006	CHI3L1
response to mechanical stimulus	1	300.9×	0.008	CHI3L1
cartilage development	1	251.5×	0.008	CHI3L1
positive regulation of interleukin-8 production	1	244.2×	0.008	CHI3L1
lung development	1	198.3×	0.009	CHI3L1
cellular response to tumor necrosis factor	1	163.6×	0.009	CHI3L1
carbohydrate metabolic process	1	135.9×	0.010	CHI3L1
positive regulation of angiogenesis	1	115.4×	0.011	CHI3L1
positive regulation of ERK1 and ERK2 cascade	1	85.1×	0.014	CHI3L1
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1	78.4×	0.014	CHI3L1
inflammatory response	1	37.7×	0.028	CHI3L1
apoptotic process	1	28.7×	0.035	CHI3L1

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CHI3L1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
CHI3L1	7	Binding:7

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	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	CHI3L1

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)
CHI3L1	7	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.