Genopathy
Gene-Disorder Association · Article
Gene
GBA1
Glucosylceramidase Beta 1
Disorder
Distal Arthrogryposis
First reported 2000
Supporting publications 1
Key publication · gene–disorder Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses.American journal of medical genetics · 2000
Key publication · disorder [Arthrogryposis multiplex congenita, a not infrequent, but rarely described deformity].Schweizerische medizinische Wochenschrift · 1950
Manually curated
Association Review

In brief

The association between GBA1 (Glucosylceramidase Beta 1) and Distal Arthrogryposis is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 9
Compounds 0
Trials 0
Publications 1
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
GBA1

The gene

1 source summary

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

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04
Distal Arthrogryposis

The disorder

14 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

1 publication

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

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06
Provenance

References & sources

5 references

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

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