Genopathy
Gene-Disorder Association · Article
Gene
PAX5
Paired Box 5
Disorder
Leukemia, Acute Lymphoblastic 3
First reported 2013
Supporting publications 1
Key publication · gene–disorder A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.Nature genetics · 2013
Key publication · disorder The role of the microbial flora in uremia. I. Survival times of germfree, limited-flora, and conventionalized rats after bilateral nephrectomy and fasting.The Journal of experimental medicine · 1966
Manually curated
Association Review

In brief

The association between PAX5 (Paired Box 5) and Leukemia, Acute Lymphoblastic 3 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a susceptibility locus.

Sources 3
Clinical variants 17
Symptoms 1
Compounds 0
Trials 0
Publications 1
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

3 sources

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

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03
PAX5

The gene

1 source summary

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

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04
Leukemia, Acute Lymphoblastic 3

The disorder

10 database identifiers

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

17 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

1 publication

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

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07
Provenance

References & sources

7 references

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

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