Genopathy
Gene-Disorder Association · Article
Gene
SH2D1A
SH2 Domain Containing 1A
Disorder
Lymphoproliferative Syndrome
First reported 2001
Supporting publications 49
Key publication · gene–disorder CD150 association with either the SH2-containing inositol phosphatase or the SH2-containing protein tyrosine phosphatase is regulated by the adaptor protein SH2D1A.Journal of immunology (Baltimore, Md. : 1950) · 2001
Key publication · disorder Large doses of prednisone and prednisolone in the treatment of malignant lymphoproliferative disorders.Annals of internal medicine · 1962
Manually curated
Association Review

In brief

The association between SH2D1A (SH2 Domain Containing 1A) and Lymphoproliferative Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 4
Symptoms 0
Compounds 0
Trials 0
Publications 49
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
SH2D1A

The gene

1 source summary

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

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04
Lymphoproliferative Syndrome

The disorder

6 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

4 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

49 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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