Genopathy
Gene-Disorder Association · Article
Gene
NPHP3-ACAD11
NPHP3-ACAD11 Readthrough (NMD Candidate)
Disorder
Nephronophthisis 3
First reported 2000
Supporting publications 17
Key publication · gene–disorder Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.American journal of human genetics · 2000
Key publication · disorder Mechanism and pathway of penicillopepsin-catalyzed transpeptidation and evidence for noncovalent trapping of amino acid and peptide intermediates.The Journal of biological chemistry · 1991
Manually curated
Association Review

In brief

The association between NPHP3-ACAD11 (NPHP3-ACAD11 Readthrough (NMD Candidate)) and Nephronophthisis 3 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 394
Symptoms 22
Compounds 0
Trials 0
Publications 17
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
NPHP3-ACAD11

The gene

1 source summary

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

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04
Nephronophthisis 3

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

14 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

394 clinical variants

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

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07
Literature

Reading

17 publications

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

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08
Provenance

References & sources

13 references

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

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