Genopathy
Gene-Disorder Association · Article
Gene
GBE1
1,4-Alpha-Glucan Branching Enzyme 1
Disorder
Arthrogryposis, Distal, Type 1a
First reported 1950
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 GBE1 (1,4-Alpha-Glucan Branching Enzyme 1) and Arthrogryposis, Distal, Type 1a is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 66
Compounds 0
Trials 0
Publications 0
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
GBE1

The gene

1 source summary

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

Request access
04
Arthrogryposis, Distal, Type 1a

The disorder

17 database identifiers

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

Request access
05
Phenotype

Clinical features

37 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
07
Provenance

References & sources

7 references

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

Request access