Genopathy
Gene-Disorder Association · Article
Gene
NKX2-5
NK2 Homeobox 5
Disorder
Ventricular Septal Defect 3
First reported 2011
Supporting publications 3
Key publication · gene–disorder A novel NKX2-5 mutation in familial ventricular septal defect.International journal of molecular medicine · 2011
Key publication · disorder Dysplasia of the tricuspid valve in the dog and cat.Journal of the American Veterinary Medical Association · 1976
Manually curated
Association Review

In brief

The association between NKX2-5 (NK2 Homeobox 5) and Ventricular Septal Defect 3 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 44
Symptoms 9
Compounds 0
Trials 0
Publications 3
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

4 sources

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

Request access
03
NKX2-5

The gene

1 source summary

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

Request access
04
Ventricular Septal Defect 3

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

4 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

44 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

3 publications

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

Request access
09
Provenance

References & sources

9 references

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

Request access