Gene-Disorder Association · Article
Gene
ASS1 Argininosuccinate Synthase 1
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First reported
1989
Supporting publications
99
Manually curated Approved treatment annotated
Association Review
In brief The association between ASS1 (Argininosuccinate Synthase 1) and Citrullinemia is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.
Sources
2
Clinical variants
630
Symptoms
4
Compounds
1
Trials
0 of 43 via ASS1 compounds
Publications
99
Contents
01
At a glance
Association overview A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
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Provenance
Evidence and sources 2 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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A gene summary alongside the source descriptions it was distilled from.
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Citrullinemia
The disorder 8 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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ClinVar and variant evidence
Genetic basis 630 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Mechanism overlap
Shared mechanisms 4 shared pathways
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 1 compound or drug
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 43 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 19 references
Every source and publication cited across this dossier, as one numbered reference list.
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