Disease ID | Disease name | Source of annotation with MMADHC | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
277410 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | MMADHC |
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REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Defects in vitamin and cofactor metabolism | R-HSA-3296482 | 8.52 |
Metabolism of vitamins and cofactors | R-HSA-196854 | 6.54 |
Diseases of metabolism | R-HSA-5668914 | 6.57 |
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD | R-HSA-3359473 | 11.98 |
Defects in cobalamin (B12) metabolism | R-HSA-3296469 | 9.28 |
Metabolism | R-HSA-1430728 | 2.34 |
Metabolism of water-soluble vitamins and cofactors | R-HSA-196849 | 6.54 |
Cobalamin (Cbl, vitamin B12) transport and metabolism | R-HSA-196741 | 8.73 |
Disease | R-HSA-1643685 | 3.33 |