Genopathy
Gene-Disorder Association · Article
Gene
SLC24A1
Solute Carrier Family 24 Member 1
Disorder
Night Blindness, Congenital Stationary, Type 1d
First reported 2010
Supporting publications 3
Key publication · gene–disorder A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.American journal of human genetics · 2010
Key publication · disorder Photoreceptor calcium channels: insight from night blindness.Visual neuroscience · 2005
Manually curated
Association Review

In brief

The association between SLC24A1 (Solute Carrier Family 24 Member 1) and Night Blindness, Congenital Stationary, Type 1d is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 113
Symptoms 8
Compounds 0
Trials 0
Publications 3
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

3 sources

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

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03
SLC24A1

The gene

1 source summary

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

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04
Night Blindness, Congenital Stationary, Type 1d

The disorder

7 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

4 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

113 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

3 publications

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

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09
Provenance

References & sources

8 references

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

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