Genopathy
Gene-Disorder Association · Article
Gene
CASR
Calcium Sensing Receptor
First reported 1950
Supporting publications 12
Association Review

In brief

The association between CASR (Calcium Sensing Receptor) and Primary Hyperparathyroidism is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 0
Compounds 0
Trials 0
Publications 12
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
CASR

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Primary Hyperparathyroidism

The disorder

12 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
ClinVar and variant evidence

Genetic basis

1 clinical variant

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
06
Literature

Reading

12 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
07
Provenance

References & sources

12 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access