Amino acid metabolism disease

Summary

Amino acid metabolism disease (MONDO:0037871) is a disease with 6 GWAS associations across 6 studies. A subtype of metabolic disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	amino acid metabolism disease
Mondo ID	MONDO:0037871
SNOMED CT	44779003
Is cancer (heuristic)	no

Also known as: amino acid disorder · amino acid metabolism disorder · amino acidopathy · cellular amino acid metabolic process disease · disorder of amino acid metabolism · disorder of cellular amino acid metabolic process

Data availability: 6 GWAS associations (6 studies).

Disease family

This is a subtype of metabolic 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 developmental or physiological process › metabolic disease › amino acid metabolism disease

Related subtypes (36): glutaric aciduria, mineral metabolism disease, xanthinuria, chondrocalcinosis, ochronosis disorder, glucose metabolism disease, diabetic kidney disease, xanthoma, diabetic retinopathy, hypertriglyceridemia, gout, lactic acidosis, acquired metabolic disease, lipodystrophy, developmental anomaly of metabolic origin, dopa-responsive dystonia, hypoalphalipoproteinemia, steroid dehydrogenase deficiency-dental anomalies syndrome, inborn errors of metabolism, vitamin B12 deficiency, proteostasis deficiencies, hyperlipidemia, disorder of GPI anchor biosynthesis, bilirubin metabolism disease, hyperlipoproteinemia, carbohydrate metabolism disease, porphyrin metabolism disease, purine metabolism disease, pyrimidine metabolism disease, disorder of acid-base balance, disorder of glutamate decarboxylase, tumor lysis syndrome, collagenous sprue, steroid metabolism disease, disorder of organic acid metabolism, skeletal fluorosis

Subtypes (4): inborn disorder of amino acid metabolism, valine metabolism disease, creatine biosynthetic process disease, glycine metabolism disease

Genetics & variants

GWAS landscape

6 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
rs112635299	3e-61	SERPINA2 - SERPINA1	G	0.72
rs117972357	5e-15	LINC02318	G	1.22
rs34562254	1e-11	TNFRSF13B	G	0.13
rs75566811	2e-08	OSCP1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475708	Verma A	2024	8,103	434,726	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477372	Verma A	2024	3,200	115,904	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479921	Verma A	2024	3,200	115,904	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477371	Verma A	2024	895	57,769	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435746	Zhou W	2018	407	408,230	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651558	Liu TY	2025	185	137,468	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	3

MAF distribution

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

Functional consequences

Consequence	Count
intron_variant	3
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs112635299	14	94371805	G>A,C,T	0.014	intron_variant	SERPINA2 - SERPINA1	3e-61	Tier 4: intronic/intergenic
rs117972357	14	95577209	G>A	0.002	intron_variant	LINC02318	5e-15	Tier 4: intronic/intergenic
rs34562254	17	16939677	G>A	0.112	missense_variant	TNFRSF13B	1e-11	Tier 1: coding
rs75566811	1	36440622	A>G		intron_variant	OSCP1	2e-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.