Genopathy
Gene-Disorder Association · Article
Gene
PNLDC1
PARN Like Ribonuclease Domain Containing Exonuclease 1
Disorder
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
First reported 2021
Supporting publications 1
Key publication · disorder Variant PNLDC1, Defective piRNA Processing, and Azoospermia.The New England journal of medicine · 2021
Manually curated
Association Review

In brief

The association between PNLDC1 (PARN Like Ribonuclease Domain Containing Exonuclease 1) and Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 2
Clinical variants 4
Symptoms 7
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

2 sources

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

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03
PNLDC1

The gene

1 source summary

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

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04
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation

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
Phenotype

Clinical features

6 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

4 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

1 publication

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

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09
Provenance

References & sources

6 references

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

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