Genopathy
Gene-Disorder Association · Article
Gene
DNHD1
Dynein Heavy Chain Domain 1
Disorder
Male Infertility With Spermatogenesis Disorder
First reported 2012
Supporting publications 2
Key publication · disorder Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.Human reproduction (Oxford, England) · 2012
Association Review

In brief

The association between DNHD1 (Dynein Heavy Chain Domain 1) and Male Infertility With Spermatogenesis Disorder is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 0
Compounds 0
Trials 0
Publications 2
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
DNHD1

The gene

1 source summary

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

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04
Male Infertility With Spermatogenesis Disorder

The disorder

3 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

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06
Literature

Reading

2 publications

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

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07
Provenance

References & sources

4 references

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

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