Genopathy
Gene-Disorder Association · Article
Gene
BRAF
B-Raf Proto-Oncogene, Serine/Threonine Kinase
Disorder
Noonan Syndrome And Noonan-Related Syndrome
First reported 2007
Supporting publications 5
Key publication · disorder Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.Nature genetics · 2007
Manually curated
Association Review

In brief

The association between BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase) and Noonan Syndrome And Noonan-Related Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 54
Symptoms 0
Compounds 0
Trials 0
Publications 5
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
BRAF

The gene

3 source summaries

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

Request access
04
Noonan Syndrome And Noonan-Related Syndrome

The disorder

3 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

54 clinical variants

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

Request access
06
Literature

Reading

5 publications

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

Request access
07
Provenance

References & sources

10 references

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

Request access