Genopathy
Gene-Disorder Association · Article
Gene
CACNA1F
Calcium Voltage-Gated Channel Subunit Alpha1 F
Disorder
Congenital Stationary Night Blindness
First reported 1998
Supporting publications 16
Key publication · gene–disorder Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.Nature genetics · 1998
Key publication · disorder Congenital stationary night blindness without ophthalmoscopic or other abnormalities.Transactions of the American Ophthalmological Society · 1952
Manually curated
Association Review

In brief

The association between CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F) and Congenital Stationary Night Blindness is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 23
Symptoms 19
Compounds 0
Trials 0
Publications 16
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
CACNA1F

The gene

2 source summaries

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

Request access
04
Congenital Stationary Night Blindness

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

14 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

23 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

16 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access