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:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | | | | 15 | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | | | | 74 | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | | | | 89 | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | | | | 56 | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | OGDH CL E G H | 4967 | 8124 | ORPHA:31 | Oxoglutaric aciduria | HP:0040281 - Very frequent | | | | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | SLC13A3 CL E G H | 64849 | 14430 | OMIM:618384 | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | | | | 2 | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0012401 | HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0012401 | HP:0012403 | Decreased urine alpha-ketoglutarate concentration | 1 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040282 - Frequent | | | 15 | | |
HP:0012401 | HP:0012402 | Increased urine alpha-ketoglutarate concentration | 1 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040281 - Very frequent | | | 74 | | |
HP:0012401 | HP:0012402 | Increased urine alpha-ketoglutarate concentration | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0012401 | HP:0012402 | Increased urine alpha-ketoglutarate concentration | 1 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0012401 | HP:0012402 | Increased urine alpha-ketoglutarate concentration | 1 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | HP:0040282 - Frequent | | | 89 | | |
HP:0012401 | HP:0012402 | Increased urine alpha-ketoglutarate concentration | 1 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0012401 | HP:0012402 | Increased urine alpha-ketoglutarate concentration | 1 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0012401 | HP:0012402 | Increased urine alpha-ketoglutarate concentration | 1 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0012401 | HP:0012402 | Increased urine alpha-ketoglutarate concentration | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0012401 | HP:0012402 | Increased urine alpha-ketoglutarate concentration | 1 | SLC13A3 CL E G H | 64849 | 14430 | OMIM:618384 | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | | | | 2 | | |
HP:0012401 | HP:0012402 | Increased urine alpha-ketoglutarate concentration | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0012401 | HP:0012402 | Increased urine alpha-ketoglutarate concentration | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0012401 | HP:0012402 | Increased urine alpha-ketoglutarate concentration | 1 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |