Genopathy
Gene-Disorder Association · Article
Gene
MAN2B2
Mannosidase Alpha Class 2B Member 2
Disorder
Man2b2-Cdg
First reported 2020
Supporting publications 2
Key publication · disorder Defining a new immune deficiency syndrome: MAN2B2-CDG.The Journal of allergy and clinical immunology · 2020
Manually curated
Association Review

In brief

The association between MAN2B2 (Mannosidase Alpha Class 2B Member 2) and Man2b2-Cdg is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 2
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
MAN2B2

The gene

2 source summaries

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

Request access
04
Man2b2-Cdg

The disorder

2 database identifiers

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

Request access
05
Literature

Reading

2 publications

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

Request access
06
Provenance

References & sources

5 references

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

Request access