Genopathy
Gene-Disorder Association · Article
Gene
GP1BA
Glycoprotein Ib Platelet Subunit Alpha
Disorder
Bernard-Soulier Syndrome Type A2
First reported 1992
Supporting publications 14
Key publication · disorder Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.Blood · 1992
Manually curated
Association Review

In brief

The association between GP1BA (Glycoprotein Ib Platelet Subunit Alpha) and Bernard-Soulier Syndrome Type A2 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 48
Symptoms 0
Compounds 0
Trials 0
Publications 14
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

1 source

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

Request access
03
GP1BA

The gene

1 source summary

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

Request access
04
Bernard-Soulier Syndrome Type A2

The disorder

2 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

48 clinical variants

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

Request access
06
Literature

Reading

14 publications

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

Request access
07
Provenance

References & sources

10 references

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

Request access