Genopathy
Gene-Disorder Association · Article
Gene
CDT1
Chromatin Licensing And DNA Replication Factor 1
Disorder
Meier-Gorlin Syndrome 1
First reported 2011
Supporting publications 4
Key publication · gene–disorder Mutations in the pre-replication complex cause Meier-Gorlin syndrome.Nature genetics · 2011
Key publication · disorder [Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome)].Helvetica paediatrica acta · 1959
Manually curated
Association Review

In brief

The association between CDT1 (Chromatin Licensing And DNA Replication Factor 1) and Meier-Gorlin Syndrome 1 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 1
Symptoms 134
Compounds 0
Trials 0
Publications 4
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
CDT1

The gene

1 source summary

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

Request access
04
Meier-Gorlin Syndrome 1

The disorder

15 database identifiers

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

Request access
05
Phenotype

Clinical features

94 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

1 clinical variant

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

4 publications

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

Request access
09
Provenance

References & sources

11 references

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

Request access