Genopathy
Gene-Disorder Association · Article
Gene
ARAF
A-Raf Proto-Oncogene, Serine/Threonine Kinase
Disorder
Pallister-Killian Syndrome
First reported 1975
Key publication · disorder [Oeso-portal disconnection by ligature, segmental resection and anastomosis of abdominal oesophagus by means of the PKS 25 apparatus in the cirrhotic patient (author's transl)].Acta chirurgica Belgica · 1975
Manually curated
Association Review

In brief

The association between ARAF (A-Raf Proto-Oncogene, Serine/Threonine Kinase) and Pallister-Killian Syndrome is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 195
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
ARAF

The gene

3 source summaries

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

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04
Pallister-Killian Syndrome

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

139 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Provenance

References & sources

8 references

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

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