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:0003217 | HP:0003217 | Hyperglutaminemia | 0 | ASL CL E G H | 435 | 746 | ORPHA:23 | Argininosuccinic aciduria | HP:0040281 - Very frequent | | | 81 | | |
HP:0003217 | HP:0003217 | Hyperglutaminemia | 0 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | . | | | 81 | | |
HP:0003217 | HP:0003217 | Hyperglutaminemia | 0 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | . | | | 119 | | |
HP:0003217 | HP:0003217 | Hyperglutaminemia | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0003217 | HP:0003217 | Hyperglutaminemia | 0 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | | | | 21 | | |
HP:0003217 | HP:0003217 | Hyperglutaminemia | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040283 - Occasional | | | 36 | | |
HP:0003217 | HP:0003217 | Hyperglutaminemia | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | . | | | 369 | | |
HP:0003217 | HP:0003217 | Hyperglutaminemia | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |