Genopathy
Gene-Disorder Association · Article
Gene
ERGIC1
Endoplasmic Reticulum-Golgi Intermediate Compartment 1
Disorder
Distal Arthrogryposis
First reported 2018
Supporting publications 2
Key publication · gene–disorder Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.Clinical genetics · 2018
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 ERGIC1 (Endoplasmic Reticulum-Golgi Intermediate Compartment 1) and Distal Arthrogryposis is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 0
Symptoms 9
Compounds 0
Trials 0
Publications 2
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

2 sources

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

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03
ERGIC1

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

2 publications

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

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06
Provenance

References & sources

7 references

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

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