Genopathy
Gene-Disorder Association · Article
Gene
BRAF
B-Raf Proto-Oncogene, Serine/Threonine Kinase
Disorder
Cardiofaciocutaneous Syndrome 1
First reported 1988
Supporting publications 102
Key publication · gene–disorder CFC syndrome: a syndrome distinct from Noonan syndrome.Annales de genetique · 1988
Key publication · disorder Ulerythema ophryogenes with mental retardation.Proceedings of the Royal Society of Medicine · 1973
Manually curated
Association Review

In brief

The association between BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase) and Cardiofaciocutaneous Syndrome 1 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 172
Symptoms 133
Compounds 0
Trials 0
Publications 102
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

4 sources

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

Request access
03
BRAF

The gene

3 source summaries

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

Request access
04
Cardiofaciocutaneous Syndrome 1

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

117 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

172 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

102 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access