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:0002448 | HP:0002448 | Progressive encephalopathy | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040280 - Obligate | | | 105 | | |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | GLYCTK CL E G H | 132158 | 24247 | ORPHA:941 | D-glyceric aciduria | HP:0040281 - Very frequent | | | 6 | | |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | . | | | 34 | | |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | . | | | 66 | | |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040284 - Very rare | | | 80 | | |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | . | | | 56 | | |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040284 - Very rare | | | 2 | | |
HP:0002448 | HP:0002448 | Progressive encephalopathy | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | HP:0040282 - Frequent | | | 51 | | |