Genopathy
Gene-Disorder Association · Article
Gene
ERBB4
Erb-B2 Receptor Tyrosine Kinase 4
Disorder
Amyotrophic Lateral Sclerosis 19
First reported 2013
Key publication · gene–disorder ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.American journal of human genetics · 2013
Key publication · disorder Agreement among three quality of life measures in patients with ALS.Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases · 2000
Manually curated
Association Review

In brief

The association between ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4) and Amyotrophic Lateral Sclerosis 19 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 27
Symptoms 7
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.

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02
Provenance

Evidence and sources

4 sources

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

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03
ERBB4

The gene

3 source summaries

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

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04
Amyotrophic Lateral Sclerosis 19

The disorder

8 database identifiers

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

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05
Phenotype

Clinical features

4 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

27 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Provenance

References & sources

8 references

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

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