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:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040282 - Frequent | | | 100 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | . | | | 100 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 8 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | GIGYF2 CL E G H | 26058 | 11960 | OMIM:607688 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11 | | | | 8 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:610297 | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13 | | | | 39 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 221 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | . | | | 221 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494541 | Childhood-onset benign chorea with striatal involvement | HP:0040283 - Occasional | | | 5 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:619491 | PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24 | | | | 81 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | | | | 34 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 65 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:314250 | Dystonia 3, torsion, X-linked | . | | | 21 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040282 - Frequent | | | 21 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | TH CL E G H | 7054 | 11782 | OMIM:605407 | Segawa syndrome, autosomal recessive | . | | | 80 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 103 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:613643 | PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5 | | | | 21 | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0002548 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 37 | | |