Genopathy
Gene-Disorder Association · Article
Gene
SH2D1A
SH2 Domain Containing 1A
Disorder
Lymphoproliferative Syndrome, X-Linked, 1
First reported 1998
Supporting publications 65
Key publication · gene–disorder Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.Nature genetics · 1998
Key publication · disorder Familial lymphoma.Proceedings of the Royal Society of Medicine · 1969
Manually curated
Association Review

In brief

The association between SH2D1A (SH2 Domain Containing 1A) and Lymphoproliferative Syndrome, X-Linked, 1 is well established and manually curated, with its 6 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 6
Clinical variants 125
Symptoms 47
Compounds 0
Trials 0
Publications 65
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

6 sources

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

Request access
03
SH2D1A

The gene

1 source summary

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

Request access
04
Lymphoproliferative Syndrome, X-Linked, 1

The disorder

14 database identifiers

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

Request access
05
Phenotype

Clinical features

31 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

125 clinical variants

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

Request access
07
Genomic context

Regulatory context

1 regulatory element

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

Request access
08
Mechanism overlap

Shared mechanisms

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

Request access
09
Literature

Reading

65 publications

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

Request access
10
Provenance

References & sources

18 references

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

Request access