Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 173 | 28337 | 614260 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | CSF1R CL E G H | 1436 | 221820 | Hereditary diffuse leukoencephalopathy with spheroids | 221820 | C3711381 | OMIM | 1 | | 518 | 2433 | 164770 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 527 | 2529 | 116840 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | FIG4 CL E G H | 9896 | 3472 | Meningococcemia | | | ORPHA | 1 | | 749 | 16873 | 609390 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 409 | 4010 | 137070 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 417 | 4601 | 138945 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 735 | 4851 | 613004 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 1678 | 18865 | 608167 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | MAPT CL E G H | 4137 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | MAPT CL E G H | 4137 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 514 | 6893 | 157140 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 206 | 26274 | 612803 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 1693 | 7897 | 607623 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 112 | 7981 | 601828 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 167 | 8820 | 131340 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 421 | 8957 | 311770 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | PSEN1 CL E G H | 5663 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | | 452 | 9508 | 104311 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | PSEN1 CL E G H | 5663 | 172700 | Pick's disease | 172700 | C0236642 | OMIM | 1 | | 452 | 9508 | 104311 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 514 | 10604 | 604272 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 250 | 8943 | 602445 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | SLC9A6 CL E G H | 10479 | 85278 | | | | ORPHA | 1 | | 536 | 11079 | 300231 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | SLC9A6 CL E G H | 10479 | 300243 | Christianson syndrome | 300243 | C2678194 | OMIM | 1 | | 536 | 11079 | 300231 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 118 | 11139 | 603779 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 445 | 11581 | 604649 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 116 | 11588 | 600075 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | VAC14 CL E G H | 55697 | 3472 | Meningococcemia | | | ORPHA | 1 | | 220 | 25507 | 604632 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 1 | | 319 | 12649 | 605704 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 110 | 12309 | 604500 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 0 | | 435 | 15832 | 606158 |
HP:0002529 | HP:0002529 | Neuronal loss in central nervous system | 0 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 995 | 2976 | 126375 |