Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | . | | | 53 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | ACSF3 CL E G H | 197322 | 27288 | ORPHA:289504 | Combined malonic and methylmalonic acidemia | HP:0040281 - Very frequent | | | 68 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | ACSF3 CL E G H | 197322 | 27288 | OMIM:614265 | Combined malonic and methylmalonic aciduria | | | | 68 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | CD320 CL E G H | 51293 | 16692 | OMIM:613646 | METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT | | | | 16 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | HCFC1 CL E G H | 3054 | 4839 | OMIM:309541 | Methylmalonic acidemia and homocysteinemia, Cblx type | . | | | 100 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | LMBRD1 CL E G H | 55788 | 23038 | ORPHA:79284 | Methylmalonic acidemia with homocystinuria type cblF | HP:0040281 - Very frequent | | | 46 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | . | | | 46 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | MCEE CL E G H | 84693 | 16732 | OMIM:251120 | Methylmalonyl-Coa epimerase deficiency | . | | | 19 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | MLYCD CL E G H | 23417 | 7150 | OMIM:248360 | Malonyl-CoA decarboxylase deficiency | | | | 80 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040281 - Very frequent | | | 101 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | MMADHC CL E G H | 27249 | 25221 | OMIM:277410 | Methylmalonic aciduria and homocystinuria, Cbld type | . | | | 50 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | . | | | 66 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | SUCLA2 CL E G H | 8803 | 11448 | ORPHA:1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | HP:0040281 - Very frequent | | | 66 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040280 - Obligate | | | 60 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | HP:0040281 - Very frequent | | | 57 | | |
HP:0012120 | HP:0012120 | Methylmalonic aciduria | 0 | TCN2 CL E G H | 6948 | 11653 | OMIM:275350 | Transcobalamin II deficiency | . | | | 57 | | |