Genopathy
Gene-Disorder Association · Article
Gene
CACNA1D
Calcium Voltage-Gated Channel Subunit Alpha1 D
Disorder
Sinoatrial Node Dysfunction And Deafness
First reported 2011
Supporting publications 5
Key publication · gene–disorder Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.Nature neuroscience · 2011
Key publication · disorder Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels.Cell · 2000
Manually curated
Association Review

In brief

The association between CACNA1D (Calcium Voltage-Gated Channel Subunit Alpha1 D) and Sinoatrial Node Dysfunction And Deafness is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 55
Symptoms 9
Compounds 0
Trials 0
Publications 5
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

4 sources

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

Request access
03
CACNA1D

The gene

2 source summaries

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

Request access
04
Sinoatrial Node Dysfunction And Deafness

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

5 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

55 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

5 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access