Genopathy
Gene-Disorder Association · Article
Gene
SLC24A5
Solute Carrier Family 24 Member 5
Disorder
Albinism
First reported 1950
Key publication · disorder [Some mutations affecting the eyes, collected as examples in the canton of Neuchatel and the Jura Bernois (congenital aniridia, universal albinism, congenital anophthalmos, total achromatopsia, oligophrenia associated with keratoconus, with ectopy of the crystalline, with congenital cataract and with atrophy of the optic nerve)].Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften · 1950
Manually curated
Association Review

In brief

The association between SLC24A5 (Solute Carrier Family 24 Member 5) and Albinism is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
SLC24A5

The gene

1 source summary

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

Request access
04
Albinism

The disorder

1 database identifier

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

Request access
05
Provenance

References & sources

2 references

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

Request access