Gene-Disorder Association · Article
Gene
MAN2B1 Mannosidase Alpha Class 2B Member 1
×
First reported
1973
Supporting publications
41
Manually curated Approved treatment annotated
Association Review
In brief The association between MAN2B1 (Mannosidase Alpha Class 2B Member 1) and Mannosidosis, Alpha B, Lysosomal is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.
Sources
5
Clinical variants
1,663
Symptoms
192
Compounds
1
Trials
10
Publications
41
Contents
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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Provenance
Evidence and sources 5 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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A gene summary alongside the source descriptions it was distilled from.
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Mannosidosis, Alpha B, Lysosomal
The disorder 16 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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Phenotype
Clinical features 150 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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ClinVar and variant evidence
Genetic basis 1,663 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Mechanism overlap
Shared mechanisms Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 1 compound or drug
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 10 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 19 references
Every source and publication cited across this dossier, as one numbered reference list.
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