Genopathy
Gene-Disorder Association · Article
Gene
PIK3R1
Phosphoinositide-3-Kinase Regulatory Subunit 1
Disorder
Immunodeficiency 36 With Lymphoproliferation
First reported 2016
Supporting publications 28
Key publication · gene–disorder Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.The Journal of allergy and clinical immunology · 2016
Key publication · disorder Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia.European journal of immunology · 1995
Manually curated
Association Review

In brief

The association between PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) and Immunodeficiency 36 With Lymphoproliferation is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 476
Symptoms 74
Compounds 0
Trials 0
Publications 28
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

4 sources

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

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03
PIK3R1

The gene

2 source summaries

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

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04
Immunodeficiency 36 With Lymphoproliferation

The disorder

9 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

38 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

476 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

28 publications

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

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09
Provenance

References & sources

15 references

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

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