Gene table of MMADHC : methylmalonic aciduria and homocystinuria, cblD type

Gene-disease associations table

Disease IDDisease nameSource of annotation with MMADHCOMIM linkNumber of associated genesgenes
277410METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPEClinVar, OMIM, HUMSAVAR link to OMIM 1MMADHC

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Annotation of the gene MMADHC

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Defects in vitamin and cofactor metabolismR-HSA-32964828.52
Metabolism of vitamins and cofactorsR-HSA-1968546.54
Diseases of metabolismR-HSA-56689146.57
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblDR-HSA-335947311.98
Defects in cobalamin (B12) metabolismR-HSA-32964699.28
MetabolismR-HSA-14307282.34
Metabolism of water-soluble vitamins and cofactorsR-HSA-1968496.54
Cobalamin (Cbl, vitamin B12) transport and metabolismR-HSA-1967418.73
DiseaseR-HSA-16436853.33
Associated GO terms for Molecular function