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:0001300 | HP:0001300 | Parkinsonism | 0 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | APOE CL E G H | 348 | 104310 | Alzheimer disease 2 | 104310 | C1863051 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | APP CL E G H | 351 | 104300 | Alzheimer's disease | 104300 | C0002395 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 340 | 18305 | 300556 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | ATP6AP2 CL E G H | 10159 | 300911 | Parkinsonism with spasticity, X-linked | 300911 | C3806722 | OMIM | 1 | | 340 | 18305 | 300556 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | COASY CL E G H | 80347 | 397725 | | | | ORPHA | 1 | | 281 | 29932 | 609855 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 1 | | 346 | 25223 | 609825 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | DCTN1 CL E G H | 1639 | 178509 | | | | ORPHA | 1 | | 1084 | 2711 | 601143 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 310 | 15469 | 608375 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 371 | 3775 | 309550 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 185 | 3999 | 134790 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 428 | 4193 | 600225 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | | 428 | 4193 | 600225 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 594 | 4601 | 138945 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | MAPT CL E G H | 4137 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | MECP2 CL E G H | 4204 | 300055 | Mental retardation, X-linked, syndromic 13 | 300055 | C1968550 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 143 | 7981 | 601828 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PANK2 CL E G H | 80025 | 216873 | | | | ORPHA | 1 | | 499 | 15894 | 606157 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 384 | 14581 | 608309 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PPP2R2B CL E G H | 5521 | 98762 | | | | ORPHA | 1 | | 71 | 9305 | 604325 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 71 | 9305 | 604325 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PRKAR1B CL E G H | 5575 | 412066 | | | | ORPHA | 1 | | 245 | 9390 | 176911 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 705 | 8607 | 602544 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PRKRA CL E G H | 8575 | 210571 | | | | ORPHA | 1 | | 192 | 9438 | 603424 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PSEN1 CL E G H | 5663 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 263 | 9689 | 612719 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 320 | 16499 | 300774 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SLC18A2 CL E G H | 6571 | 352649 | | | | ORPHA | 1 | | 183 | 10935 | 193001 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 183 | 10935 | 193001 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SLC39A14 CL E G H | 23516 | 617013 | Hypermanganesemia with dystonia 2 | 617013 | C4310765 | OMIM | 1 | | 270 | 20858 | 608736 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SLC6A3 CL E G H | 6531 | 238455 | | | | ORPHA | 1 | | 583 | 11049 | 126455 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SNCA CL E G H | 6622 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SNCA CL E G H | 6622 | 605543 | Parkinson disease 4 | 605543 | C1854182 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 160 | 11139 | 603779 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SNCB CL E G H | 6620 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 72 | 11140 | 602569 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1315 | 11503 | 604297 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 1 | | 967 | 11782 | 191290 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 237 | 25186 | 616101 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 2362 | 1908 | 605978 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 828 | 23594 | 608879 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 587 | 28912 | 300526 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 587 | 28912 | 300526 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 234 | 12827 | 605237 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | APOE CL E G H | 348 | 104310 | Alzheimer disease 2 | 104310 | C1863051 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | APP CL E G H | 351 | 104300 | Alzheimer's disease | 104300 | C0002395 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | ATP1A3 CL E G H | 478 | 128235 | Dystonia 12 | 128235 | C1868681 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 340 | 18305 | 300556 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | ATP6AP2 CL E G H | 10159 | 300911 | Parkinsonism with spasticity, X-linked | 300911 | C3806722 | OMIM | 1 | | 340 | 18305 | 300556 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | C9orf72 CL E G H | 203228 | 105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 105550 | C1862937 | OMIM | 1 | | 177 | 28337 | 614260 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 1 | | 297 | 15559 | 615903 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | COASY CL E G H | 80347 | 397725 | | | | ORPHA | 1 | | 281 | 29932 | 609855 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 1 | | 346 | 25223 | 609825 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | DCTN1 CL E G H | 1639 | 178509 | | | | ORPHA | 1 | | 1084 | 2711 | 601143 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | DCTN1 CL E G H | 1639 | 168605 | Perry syndrome | 168605 | C1868594 | OMIM | 1 | | 1084 | 2711 | 601143 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 310 | 15469 | 608375 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 371 | 3775 | 309550 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 185 | 3999 | 134790 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 1 | | 474 | 4010 | 137070 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 428 | 4193 | 600225 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | | 428 | 4193 | 600225 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | GRN CL E G H | 2896 | 607485 | Frontotemporal dementia, ubiquitin-positive | 607485 | C1843792 | OMIM | 1 | | 594 | 4601 | 138945 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | MAPT CL E G H | 4137 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | MAPT CL E G H | 4137 | 601104 | Progressive supranuclear ophthalmoplegia | 601104 | C0038868 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | MECP2 CL E G H | 4204 | 300055 | Mental retardation, X-linked, syndromic 13 | 300055 | C1968550 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 143 | 7981 | 601828 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PANK2 CL E G H | 80025 | 216873 | | | | ORPHA | 1 | | 499 | 15894 | 606157 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 384 | 14581 | 608309 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PPP2R2B CL E G H | 5521 | 98762 | | | | ORPHA | 1 | | 71 | 9305 | 604325 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 71 | 9305 | 604325 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PRKAR1B CL E G H | 5575 | 412066 | | | | ORPHA | 1 | | 245 | 9390 | 176911 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 705 | 8607 | 602544 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PRKRA CL E G H | 8575 | 210571 | | | | ORPHA | 1 | | 192 | 9438 | 603424 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 192 | 9438 | 603424 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PSEN1 CL E G H | 5663 | 600274 | Frontotemporal dementia | 600274 | C0338451 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 263 | 9689 | 612719 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 320 | 16499 | 300774 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SLC18A2 CL E G H | 6571 | 352649 | | | | ORPHA | 1 | | 183 | 10935 | 193001 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 183 | 10935 | 193001 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SLC39A14 CL E G H | 23516 | 617013 | Hypermanganesemia with dystonia 2 | 617013 | C4310765 | OMIM | 1 | | 270 | 20858 | 608736 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SLC6A3 CL E G H | 6531 | 238455 | | | | ORPHA | 1 | | 583 | 11049 | 126455 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 583 | 11049 | 126455 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SNCA CL E G H | 6622 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SNCA CL E G H | 6622 | 605543 | Parkinson disease 4 | 605543 | C1854182 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 160 | 11139 | 603779 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SNCB CL E G H | 6620 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 72 | 11140 | 602569 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 1 | | 677 | 11280 | 601530 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1315 | 11503 | 604297 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 1 | | 309 | 11571 | 605078 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 1 | | 382 | 11584 | 604834 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 1 | | 967 | 11782 | 191290 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 237 | 25186 | 616101 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 2362 | 1908 | 605978 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 828 | 23594 | 608879 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 587 | 28912 | 300526 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 587 | 28912 | 300526 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 234 | 12827 | 605237 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 0 | | 480 | 315 | 604581 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 0 | | 480 | 315 | 604581 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 0 | | 1021 | 22197 | 613653 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 0 | | 974 | 30213 | 610513 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 0 | | 115 | 10555 | 601517 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 65 | 7106 | 607047 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | C9orf72 CL E G H | 203228 | 100070 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 0 | | 297 | 15559 | 615903 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | CHMP2B CL E G H | 25978 | 100070 | | | | ORPHA | 0 | | 160 | 24537 | 609512 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 0 | | 346 | 25223 | 609825 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | DNAJC12 CL E G H | 56521 | 617384 | Hyperphenylalaninemia, mild, non-bh4-deficient | 617384 | C4479270 | OMIM | 0 | | 115 | 28908 | 606060 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 0 | | 371 | 3775 | 309550 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 0 | | 185 | 3999 | 134790 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | GRN CL E G H | 2896 | 100070 | | | | ORPHA | 0 | | 594 | 4601 | 138945 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | JPH3 CL E G H | 57338 | 98934 | | | | ORPHA | 0 | | 176 | 14203 | 605268 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | KIF5A CL E G H | 3798 | 604187 | Spastic paraplegia 10 | 604187 | C1858712 | OMIM | 0 | | 1014 | 6323 | 602821 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | MAPT CL E G H | 4137 | 100070 | | | | ORPHA | 0 | | 581 | 6893 | 157140 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PDGFRB CL E G H | 5159 | 615007 | Basal ganglia calcification, idiopathic, 4 | 615007 | C3554321 | OMIM | 0 | | 531 | 8804 | 173410 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | PSEN1 CL E G H | 5663 | 100070 | | | | ORPHA | 0 | | 501 | 9508 | 104311 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | TMEM106B CL E G H | 54664 | 100070 | | | | ORPHA | 0 | | 128 | 22407 | 613413 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | TREM2 CL E G H | 54209 | 100070 | | | | ORPHA | 0 | | 154 | 17761 | 605086 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | VCP CL E G H | 7415 | 100070 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0001300 | HP:0001300 | Parkinsonism | 0 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 0 | | 480 | 315 | 604581 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 0 | | 480 | 315 | 604581 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 0 | | 1021 | 22197 | 613653 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 0 | | 974 | 30213 | 610513 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 0 | | 115 | 10555 | 601517 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 65 | 7106 | 607047 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | C9orf72 CL E G H | 203228 | 100070 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 0 | | 297 | 15559 | 615903 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | CHMP2B CL E G H | 25978 | 100070 | | | | ORPHA | 0 | | 160 | 24537 | 609512 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 0 | | 346 | 25223 | 609825 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | DNAJC12 CL E G H | 56521 | 617384 | Hyperphenylalaninemia, mild, non-bh4-deficient | 617384 | C4479270 | OMIM | 0 | | 115 | 28908 | 606060 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 0 | | 371 | 3775 | 309550 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 0 | | 185 | 3999 | 134790 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | GRN CL E G H | 2896 | 100070 | | | | ORPHA | 0 | | 594 | 4601 | 138945 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | JPH3 CL E G H | 57338 | 98934 | | | | ORPHA | 0 | | 176 | 14203 | 605268 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | KIF5A CL E G H | 3798 | 604187 | Spastic paraplegia 10 | 604187 | C1858712 | OMIM | 0 | | 1014 | 6323 | 602821 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | MAPT CL E G H | 4137 | 100070 | | | | ORPHA | 0 | | 581 | 6893 | 157140 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PDGFRB CL E G H | 5159 | 615007 | Basal ganglia calcification, idiopathic, 4 | 615007 | C3554321 | OMIM | 0 | | 531 | 8804 | 173410 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | PSEN1 CL E G H | 5663 | 100070 | | | | ORPHA | 0 | | 501 | 9508 | 104311 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | TMEM106B CL E G H | 54664 | 100070 | | | | ORPHA | 0 | | 128 | 22407 | 613413 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | TREM2 CL E G H | 54209 | 100070 | | | | ORPHA | 0 | | 154 | 17761 | 605086 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | VCP CL E G H | 7415 | 100070 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0001300 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |