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:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | . | | | 31 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | ARG1 CL E G H | 383 | 663 | ORPHA:90 | Argininemia | HP:0040282 - Frequent | | | 31 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 253 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040282 - Frequent | | | 100 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | HP:0040281 - Very frequent | | | 69 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | HP:0040284 - Very rare | | | 231 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280234 | Null syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 81 | | |
HP:0002478 | HP:0002478 | Progressive spastic quadriplegia | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |