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:0040319 | HP:0040319 | Dark urine | 0 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0040319 | HP:0040319 | Dark urine | 0 | ATP11C CL E G H | 286410 | 13554 | OMIM:301015 | Hemolytic anemia, congenital, X-linked | | | | 1 | | |
HP:0040319 | HP:0040319 | Dark urine | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0040319 | HP:0040319 | Dark urine | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0040319 | HP:0040319 | Dark urine | 0 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | HP:0040282 - Frequent | | | 72 | | |
HP:0040319 | HP:0040319 | Dark urine | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0040319 | HP:0040319 | Dark urine | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0040319 | HP:0040319 | Dark urine | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0040319 | HP:0040319 | Dark urine | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040282 - Frequent | | | 166 | | |
HP:0040319 | HP:0040319 | Dark urine | 0 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | . | | | 166 | | |
HP:0040319 | HP:0040319 | Dark urine | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0040319 | HP:0040319 | Dark urine | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | 2 | | |
HP:0040319 | HP:0040319 | Dark urine | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |