NDE1 and Aortic Aneurysm, Familial Thoracic 4: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

NDE1

NudE Neurodevelopment Protein 1

Disorder

Aortic Aneurysm, Familial Thoracic 4

First reported 1986

Supporting publications 9

Key publication · disorder Determination of amino acid digestibility using caecectomised and intact adult cockerels.British poultry science · 1986

Association Review

In brief

The association between NDE1 (NudE Neurodevelopment Protein 1) and Aortic Aneurysm, Familial Thoracic 4 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1

Clinical variants 909

Symptoms 28

Compounds 0

Trials 0

Publications 9

01

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

02

Provenance

Evidence and sources

1 source

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

03

NDE1

The gene

1 source summary

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

04

Aortic Aneurysm, Familial Thoracic 4

The disorder

6 database identifiers

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

05

Phenotype

Clinical features

18 clinical features

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

06

ClinVar and variant evidence

Genetic basis

909 clinical variants

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

07

Literature

Reading

9 publications

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

08

Provenance

References & sources

12 references

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