Genopathy
Gene-Disorder Association · Article
Gene
KCNA5
Potassium Voltage-Gated Channel Subfamily A Member 5
Disorder
Pulmonary Venoocclusive Disease 1
First reported 2000
Key publication · disorder Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.American journal of human genetics · 2000
Manually curated
Association Review

In brief

The association between KCNA5 (Potassium Voltage-Gated Channel Subfamily A Member 5) and Pulmonary Venoocclusive Disease 1 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
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
KCNA5

The gene

2 source summaries

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

Request access
04
Pulmonary Venoocclusive Disease 1

The disorder

2 database identifiers

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

Request access
05
Provenance

References & sources

3 references

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

Request access