Association Review
In brief
The association between CALR3 (Calreticulin 3) and Cardiomyopathy, Familial Hypertrophic, 1 is reported, with clinical genetic testing available.
Sources
1
Clinical variants
290
Symptoms
10
Compounds
0
Trials
0
Publications
0
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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02
Provenance
Evidence and sources
1 source
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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1 source summary
A gene summary alongside the source descriptions it was distilled from.
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04
Cardiomyopathy, Familial Hypertrophic, 1
The disorder
14 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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05
Phenotype
Clinical features
5 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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06
ClinVar and variant evidence
Genetic basis
290 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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07
Provenance
References & sources
5 references
Every source and publication cited across this dossier, as one numbered reference list.
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