Genopathy
Gene-Disorder Association · Article
Gene
NUS1
NUS1 Dehydrodolichyl Diphosphate Synthase Subunit
Disorder
Congenital Disorder Of Glycosylation, Type Iaa
First reported 2005
Supporting publications 8
Key publication · disorder Splicing in action: assessing disease causing sequence changes.Journal of medical genetics · 2005
Manually curated
Association Review

In brief

The association between NUS1 (NUS1 Dehydrodolichyl Diphosphate Synthase Subunit) and Congenital Disorder Of Glycosylation, Type Iaa is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 356
Symptoms 29
Compounds 0
Trials 0
Publications 8
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

4 sources

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

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03
NUS1

The gene

1 source summary

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

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04
Congenital Disorder Of Glycosylation, Type Iaa

The disorder

7 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

17 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

356 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

8 publications

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

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09
Provenance

References & sources

14 references

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

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