Genopathy
Gene-Disorder Association · Article
Gene
MMUT
Methylmalonyl-CoA Mutase
Disorder
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
First reported 1994
Supporting publications 58
Key publication · gene–disorder Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.Human molecular genetics · 1994
Key publication · disorder A new species of Coccidia of the red kangaroo Macropus rufus Mamm.Zeitschrift fur Parasitenkunde (Berlin, Germany) · 1960
Manually curated
Association Review

In brief

The association between MMUT (Methylmalonyl-CoA Mutase) and Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency 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 369
Symptoms 71
Compounds 0
Trials 0
Publications 58
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

5 sources

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

Request access
03
MMUT

The gene

1 source summary

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

Request access
04
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency

The disorder

18 database identifiers

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

Request access
05
Phenotype

Clinical features

56 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

369 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

2 shared pathways

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

58 publications

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

Request access
09
Provenance

References & sources

20 references

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

Request access