Genopathy
Gene-Disorder Association · Article
Gene
LOC132089454
Neanderthal Introgressed Variant-Containing Enhancer Experimental_94412
Disorder
Salla Disease
First reported 1999
Supporting publications 3
Key publication · gene–disorder A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.Nature genetics · 1999
Key publication · disorder Four patients with a new lysosomal storage disorder (Salla disease).Monographs in human genetics · 1978
Manually curated
Association Review

In brief

The association between LOC132089454 (Neanderthal Introgressed Variant-Containing Enhancer Experimental_94412) and Salla Disease is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 22
Symptoms 27
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.

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
LOC132089454

The gene

1 source summary

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

Request access
04
Salla Disease

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

17 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

22 clinical variants

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

Request access
07
Literature

Reading

3 publications

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

Request access
08
Provenance

References & sources

9 references

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

Request access