Genopathy
Gene-Disorder Association · Article
Gene
B4GALNT2
Beta-1,4-N-Acetyl-Galactosaminyltransferase 2 (SID Blood Group)
Disorder
Blood Group, Sid System
First reported 1968
Supporting publications 1
Key publication · disorder [Herediatry dominant polyagglutinability: private antigen (Cad) corresponding to a public antibody and a lectin of Dolichos biflorus].Revue francaise de transfusion · 1968
Manually curated
Association Review

In brief

The association between B4GALNT2 (Beta-1,4-N-Acetyl-Galactosaminyltransferase 2 (SID Blood Group)) and Blood Group, Sid System is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 4
Symptoms 0
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

2 sources

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

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03
B4GALNT2

The gene

1 source summary

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

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04
Blood Group, Sid System

The disorder

2 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

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

4 references

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

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