Genopathy
Gene-Disorder Association · Article
Gene
DKC1
Dyskerin Pseudouridine Synthase 1
Disorder
Dyskeratosis Congenita
First reported 1975
Supporting publications 59
Key publication · gene–disorder Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature.Journal of medical genetics · 1975
Key publication · disorder The so-called "dyskeratosis congenita"; cole, rauschkolb and toomey; pigmentatio parvo-reticularis cum leucoplakia et dystrophia unguium.Dermatologica · 1951
Manually curated
Association Review

In brief

The association between DKC1 (Dyskerin Pseudouridine Synthase 1) and Dyskeratosis Congenita is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 387
Symptoms 64
Compounds 0
Trials 0
Publications 59
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
DKC1

The gene

1 source summary

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

Request access
04
Dyskeratosis Congenita

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

62 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

387 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

59 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access