Genopathy
Gene-Disorder Association · Article
Gene
EIF2AK4
Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4
Disorder
Heritable Pulmonary Arterial Hypertension
First reported 1992
Supporting publications 1
Key publication · disorder Tissue- and development-specific expression of the human phenylalanine hydroxylase/chloramphenicol acetyltransferase fusion gene in transgenic mice.The Journal of biological chemistry · 1992
Manually curated
Association Review

In brief

The association between EIF2AK4 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4) and Heritable Pulmonary Arterial Hypertension is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 0
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
EIF2AK4

The gene

1 source summary

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

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04
Heritable Pulmonary Arterial Hypertension

The disorder

5 database identifiers

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

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05
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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06
Literature

Reading

1 publication

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

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07
Provenance

References & sources

5 references

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

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