Genopathy
Gene-Disorder Association · Article
Gene
LOC130056973
ATAC-STARR-Seq Lymphoblastoid Active Region 9341
Disorder
Spastic Paraplegia 11
First reported 1988
Supporting publications 8
Key publication · disorder Genotoxicity of active oxygen species in mammalian cells.Mutation research · 1988
Manually curated
Association Review

In brief

The association between LOC130056973 (ATAC-STARR-Seq Lymphoblastoid Active Region 9341) and Spastic Paraplegia 11 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 50
Symptoms 3
Compounds 0
Trials 0
Publications 8
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
LOC130056973

The gene

1 source summary

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

Request access
04
Spastic Paraplegia 11

The disorder

2 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

50 clinical variants

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

Request access
06
Literature

Reading

8 publications

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

Request access
07
Provenance

References & sources

11 references

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

Request access