Gene-Disorder Association · Article
Gene
AGTR1 Angiotensin II Receptor Type 1
×
First reported
1994
Supporting publications
28
Manually curated Approved treatment annotated
Association Review
In brief The association between AGTR1 (Angiotensin II Receptor Type 1) and Hypertension, Essential is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a susceptibility locus.
Sources
3
Clinical variants
52
Symptoms
8
Compounds
15
Trials
167 of 3,049 via AGTR1 compounds
Publications
28
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 3 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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Hypertension, Essential
The disorder 11 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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Phenotype
Clinical features 3 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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ClinVar and variant evidence
Genetic basis 52 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 Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 15 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 3,049 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 20 references
Every source and publication cited across this dossier, as one numbered reference list.
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