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:0003344 | HP:0003344 | 3-Methylglutaric aciduria | 0 | DNAJC19 CL E G H | 131118 | 30528 | OMIM:610198 | 3-@methylglutaconic aciduria, type V | . | | | 25 | | |
HP:0003344 | HP:0003344 | 3-Methylglutaric aciduria | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040281 - Very frequent | | | 35 | | |
HP:0003344 | HP:0003344 | 3-Methylglutaric aciduria | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0003344 | HP:0003344 | 3-Methylglutaric aciduria | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | | | | 39 | | |
HP:0003344 | HP:0003344 | 3-Methylglutaric aciduria | 0 | OPA3 CL E G H | 80207 | 8142 | OMIM:258501 | 3-methylglutaconic aciduria, type III | | | | 163 | | |
HP:0003344 | HP:0003344 | 3-Methylglutaric aciduria | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |