Genopathy
Gene-Disorder Association · Article
Gene
CREBBP
CREB Binding Lysine Acetyltransferase
Disorder
Chromosome 16p13.3 Deletion Syndrome, Proximal
First reported 1996
Supporting publications 58
Key publication · gene–disorder p300 and CBP as transcriptional regulators and targets of oncogenic events.Biological chemistry · 1996
Key publication · disorder Brachydactyly, facial abnormalities, and mental retardation. Rubinstein-Taybi syndrome.American journal of diseases of children (1960) · 1966
Manually curated
Association Review

In brief

The association between CREBBP (CREB Binding Lysine Acetyltransferase) and Chromosome 16p13.3 Deletion Syndrome, Proximal is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 1,415
Symptoms 83
Compounds 0
Trials 0
Publications 58
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

2 sources

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

Request access
03
CREBBP

The gene

2 source summaries

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

Request access
04
Chromosome 16p13.3 Deletion Syndrome, Proximal

The disorder

14 database identifiers

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

Request access
05
Phenotype

Clinical features

82 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

1,415 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

1 shared pathway

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

Request access
08
Literature

Reading

58 publications

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

Request access
09
Provenance

References & sources

18 references

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

Request access