Genopathy
Gene-Disorder Association · Article
Gene
SLC45A2
Solute Carrier Family 45 Member 2
Disorder
Albinism, Oculocutaneous, Type Iv
First reported 2004
Supporting publications 37
Key publication · gene–disorder Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.American journal of human genetics · 2004
Key publication · disorder RECESSIVE TOTAL ALBINISM AND CONGENITAL DEAF-MUTISM.Archives of dermatology · 1964
Manually curated
Association Review

In brief

The association between SLC45A2 (Solute Carrier Family 45 Member 2) and Albinism, Oculocutaneous, Type Iv is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 117
Symptoms 27
Compounds 0
Trials 0
Publications 37
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

5 sources

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

Request access
03
SLC45A2

The gene

1 source summary

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

Request access
04
Albinism, Oculocutaneous, Type Iv

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

19 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

117 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

37 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access