Association Review
In brief
The association between MMAA (Metabolism Of Cobalamin Associated A) and Vitamin B12 Deficiency is reported, with clinical genetic testing available.
Sources
1
Clinical variants
0
Symptoms
0
Compounds
2
Trials
11of 78 via MMAA compounds
Publications
0
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
02
Provenance
Evidence and sources
1 source
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
1 source summary
A gene summary alongside the source descriptions it was distilled from.
04
Vitamin B12 Deficiency
The disorder
4 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
05
Population genetics
GWAS signals
1 GWAS phenotype
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
06
Mechanism overlap
Shared mechanisms
2 shared pathways
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
07
Interventions
Therapeutics
2 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
08
Human studies
Clinical trials
78 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
09
Provenance
References & sources
10 references
Every source and publication cited across this dossier, as one numbered reference list.
