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GENE - TERM ANNOTATION REPORT

RGD ID: 1596242
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mmab
Name: metabolism of cobalamin associated B
Acc ID: DOID:0050452
Term: mevalonic aciduria
Definition: A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Mmab ISOMMAB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mevalonic aciduriaPMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532
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