Genopathy
Gene-Disorder Association · Article
Gene
RUNX1
RUNX Family Transcription Factor 1
Disorder
Hereditary Thrombocytopenia And Hematological Cancer Predisposition Syndrome Associated With Runx1
First reported 2010
Supporting publications 71
Key publication · gene–disorder Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome.Leukemia · 2010
Key publication · disorder Inherited platelet-storage pool deficiency associated with a high incidence of acute myeloid leukaemia.British journal of haematology · 1991
Manually curated
Association Review

In brief

The association between RUNX1 (RUNX Family Transcription Factor 1) and Hereditary Thrombocytopenia And Hematological Cancer Predisposition Syndrome Associated With Runx1 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 1,382
Symptoms 0
Compounds 0
Trials 0
Publications 71
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

2 sources

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

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03
RUNX1

The gene

2 source summaries

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

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04
Hereditary Thrombocytopenia And Hematological Cancer Predisposition Syndrome Associated With Runx1

The disorder

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

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05
ClinVar and variant evidence

Genetic basis

1,382 clinical variants

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

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06
Literature

Reading

71 publications

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

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07
Provenance

References & sources

12 references

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

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