Genopathy
Gene-Disorder Association · Article
Gene
PRKAR1A
Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha
Disorder
Inherited Cancer-Predisposing Syndrome
First reported 1965
Supporting publications 15
Key publication · disorder New information concerning the Irish giant.Journal of neurosurgery · 1965
Manually curated
Association Review

In brief

The association between PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha) and Inherited Cancer-Predisposing Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 513
Symptoms 0
Compounds 0
Trials 0
Publications 15
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

2 sources

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

Request access
03
PRKAR1A

The gene

2 source summaries

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

Request access
04
Inherited Cancer-Predisposing Syndrome

The disorder

3 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

513 clinical variants

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

Request access
06
Literature

Reading

15 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