Genopathy
Gene-Disorder Association · Article
Gene
NIPBL
NIPBL Cohesin Loading Factor
Disorder
Cornelia De Lange Syndrome 1
First reported 2001
Supporting publications 64
Key publication · gene–disorder Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.American journal of medical genetics · 2001
Key publication · disorder [Typus degenerativus amstelodamensis: a clinical case].Minerva pediatrica · 1957
Manually curated
Association Review

In brief

The association between NIPBL (NIPBL Cohesin Loading Factor) and Cornelia De Lange Syndrome 1 is well established and manually curated, with its 5 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 5
Clinical variants 1,524
Symptoms 157
Compounds 0
Trials 0
Publications 64
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

5 sources

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

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03
NIPBL

The gene

1 source summary

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

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04
Cornelia De Lange Syndrome 1

The disorder

8 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

125 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

1,524 clinical variants

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

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07
Genomic context

Regulatory context

1 regulatory element

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

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08
Mechanism overlap

Shared mechanisms

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

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09
Literature

Reading

64 publications

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

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10
Provenance

References & sources

17 references

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

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