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:0002322 | HP:0002322 | Resting tremor | 0 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 480 | 236 | 600293 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | ATP6AP2 CL E G H | 10159 | 363654 | | | | ORPHA | 1 | | 303 | 18305 | 300556 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | ATP6AP2 CL E G H | 10159 | 300911 | Parkinsonism with spasticity, X-linked | 300911 | C3806722 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | CHCHD2 CL E G H | 51142 | 616710 | Parkinson disease 22, autosomal dominant | 616710 | C4225238 | OMIM | 1 | | 72 | 21645 | 616244 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 1 | | 205 | 25223 | 609825 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 1 | | 165 | 30343 | 614334 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 1 | | 94 | 3296 | 600495 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 338 | 3775 | 309550 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 1 | | 255 | 11960 | 612003 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 1 | | 2226 | 18618 | 609007 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | MICU1 CL E G H | 10367 | 401768 | | | | ORPHA | 1 | | 166 | 1530 | 605084 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 112 | 7981 | 601828 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 301 | 14581 | 608309 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 307 | 16499 | 300774 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 177 | 11138 | 163890 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 118 | 11139 | 603779 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 345 | 11535 | 313650 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 521 | 23594 | 608879 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 1 | | 184 | 13487 | 601501 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 480 | 236 | 600293 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | ATP6AP2 CL E G H | 10159 | 363654 | | | | ORPHA | 1 | | 303 | 18305 | 300556 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | ATP6AP2 CL E G H | 10159 | 300911 | Parkinsonism with spasticity, X-linked | 300911 | C3806722 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | CHCHD2 CL E G H | 51142 | 616710 | Parkinson disease 22, autosomal dominant | 616710 | C4225238 | OMIM | 1 | | 72 | 21645 | 616244 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | COQ2 CL E G H | 27235 | 98933 | | | | ORPHA | 1 | | 205 | 25223 | 609825 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 1 | | 165 | 30343 | 614334 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 1 | | 94 | 3296 | 600495 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 338 | 3775 | 309550 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 1 | | 255 | 11960 | 612003 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 1 | | 2226 | 18618 | 609007 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | MICU1 CL E G H | 10367 | 401768 | | | | ORPHA | 1 | | 166 | 1530 | 605084 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 112 | 7981 | 601828 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 301 | 14581 | 608309 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 1 | | 307 | 16499 | 300774 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 177 | 11138 | 163890 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 118 | 11139 | 603779 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 345 | 11535 | 313650 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 521 | 23594 | 608879 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 1 | | 184 | 13487 | 601501 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002322 | HP:0002322 | Resting tremor | 0 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 0 | | 480 | 236 | 600293 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 0 | | 790 | 801 | 182350 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 0 | | 445 | 1394 | 604065 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 0 | | 205 | 25223 | 609825 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 995 | 2976 | 126375 |
HP:0002322 | HP:0002322 | Resting tremor | 0 | OPA3 CL E G H | 80207 | 67036 | | | | ORPHA | 0 | | 448 | 8142 | 606580 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 0 | | 480 | 236 | 600293 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 0 | | 790 | 801 | 182350 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 0 | | 445 | 1394 | 604065 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 0 | | 205 | 25223 | 609825 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 995 | 2976 | 126375 |
HP:0002322 | HP:0025387 | Pill-rolling tremor | 1 | OPA3 CL E G H | 80207 | 67036 | | | | ORPHA | 0 | | 448 | 8142 | 606580 |