Genopathy
Gene-Disorder Association · Article
Gene
BSCL2
BSCL2 Lipid Droplet Biogenesis Associated, Seipin
Disorder
Motor Neuron Disease
First reported 2007
Supporting publications 3
Key publication · gene–disorder [Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress].Rinsho shinkeigaku = Clinical neurology · 2007
Key publication · disorder [Bulbar syndrome; compression by occipital sequestrum; obstetrical trauma; secondary hydrocephalus].Anais paulistas de medicina e cirurgia · 1950
Manually curated
Association Review

In brief

The association between BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin) and Motor Neuron Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 4
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

1 source

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

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03
BSCL2

The gene

1 source summary

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

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04
Motor Neuron Disease

The disorder

9 database identifiers

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

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05
Literature

Reading

3 publications

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

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06
Provenance

References & sources

6 references

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

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