Autism, susceptibility to, 1

Summary

Autism, susceptibility to, 1 (MONDO:0800416) 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	autism, susceptibility to, 1
Mondo ID	MONDO:0800416
UMLS	C1968924
MedGen	369890
Is cancer (heuristic)	no

Also known as: autism susceptibility 1 · autism susceptibility 1, isolated cases · AUTS1

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › autism, susceptiblity to › autism, susceptibility to, 1

Related subtypes (25): autism, susceptibility to, X-linked 1, autism, susceptibility to, X-linked 2, autism, susceptibility to, X-linked 3, autism, susceptibility to, X-linked 4, autism, susceptibility to, X-linked 5, epsilon-trimethyllysine hydroxylase deficiency, intellectual developmental disorder with autism and speech delay, autism, susceptibility to, 8, autism, susceptibility to, 3, autism, susceptibility to, 6, autism, susceptibility to, 7, autism, susceptibility to, 11, autism, susceptibility to, 12, autism, susceptibility to, 13, autism, susceptibility to, 9, autism, susceptibility to, 10, autism, susceptibility to, 15, autism, susceptibility to, 16, autism, susceptibility to, 17, intellectual developmental disorder with autism and macrocephaly, autism, susceptibility to, 19, autism, susceptibility to, 20, autism, susceptibility to, 14a, autism, susceptibility to, 14b, autism, susceptibility to, 4

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 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
16037	NM_006708.3(GLO1):c.332A>C (p.Glu111Ala)	GLO1	Uncertain significance	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
GLO1	HGNC:4323	ENSG00000124767	Q04760	Lactoylglutathione lyase	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GLO1	Lactoylglutathione lyase	Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione.

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
Enzyme (other)	1	12.0×	0.083

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
GLO1	Enzyme (other)	yes	4.4.1.5	Glyas_Fos-R_dOase_dom, Glyoxalase_1, Glyoxalase_1_CS

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
corpus epididymis	1
jejunal mucosa	1
middle temporal gyrus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GLO1	293	ubiquitous	marker	corpus epididymis, middle temporal gyrus, jejunal mucosa

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GLO1	196

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
GLO1	Q04760	16

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
Pyruvate metabolism	1	407.9×	0.007	GLO1
Aerobic respiration and respiratory electron transport	1	88.5×	0.017	GLO1
Metabolism	1	11.6×	0.086	GLO1

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
methylglyoxal metabolic process	1	8426.0×	7e-04	GLO1
glutathione metabolic process	1	351.1×	0.006	GLO1
osteoclast differentiation	1	343.9×	0.006	GLO1
carbohydrate metabolic process	1	135.9×	0.011	GLO1
negative regulation of apoptotic process	1	34.8×	0.035	GLO1
regulation of transcription by RNA polymerase II	1	11.7×	0.086	GLO1

Therapeutics

Drug target analysis

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

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

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
GLO1	TOLMETIN

Top cohort targets by molecule count

Symbol	Molecules	Max phase
GLO1	11	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
TOLMETIN	4	GLO1
SULINDAC	4	GLO1
ACEMETACIN	4	GLO1
INDOMETHACIN	4	GLO1
CURCUMIN	3	GLO1
QUERCETIN	3	GLO1
ZOPOLRESTAT	2	GLO1
LUTEOLIN	2	GLO1
FISETIN	2	GLO1
BAICALEIN	2	GLO1
KAEMPFEROL	1	GLO1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
GLO1	72	Binding:70, ADMET:1, Functional:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
GLO1	4.4.1.5	lactoylglutathione lyase

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

11 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.

Compound	Max phase	Cohort target (bioactivity)
TOLMETIN	4	GLO1
SULINDAC	4	GLO1
ACEMETACIN	4	GLO1
INDOMETHACIN	4	GLO1
CURCUMIN	3	GLO1
QUERCETIN	3	GLO1
ZOPOLRESTAT	2	GLO1
LUTEOLIN	2	GLO1
FISETIN	2	GLO1
BAICALEIN	2	GLO1
KAEMPFEROL	1	GLO1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	GLO1
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	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.