Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0004353 | HP:0004353 | Abnormal circulating pyrimidine concentration | 0 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | | | | 44 | | |
HP:0004353 | HP:0004353 | Abnormal circulating pyrimidine concentration | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0004353 | HP:0004353 | Abnormal circulating pyrimidine concentration | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0004353 | HP:0004353 | Abnormal circulating pyrimidine concentration | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0004353 | HP:0033139 | Elevated circulating uracil concentration | 1 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | | | | 44 | | |
HP:0004353 | HP:0033139 | Elevated circulating uracil concentration | 1 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0004353 | HP:0034277 | Elevated circulating deoxyuridine concentration | 1 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0004353 | HP:0034276 | Elevated circulating thymidine concentration | 1 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0004353 | HP:0034277 | Elevated circulating deoxyuridine concentration | 1 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0004353 | HP:0034276 | Elevated circulating thymidine concentration | 1 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |