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:0002174 | HP:0002174 | Postural tremor | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | | | | 17 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040284 - Very rare | | | 100 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040283 - Occasional | | | 19 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | HP:0040283 - Occasional | | | 105 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | | | | 35 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:616411 | Dystonia 27 | . | | | 702 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:464440 | Primary dystonia, DYT27 type | | | | 702 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040283 - Occasional | | | 54 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | DRD3 CL E G H | 1814 | 3024 | OMIM:190300 | Tremor, hereditary essential, 1 | . | | | 21 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | | | | 47 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | . | | | 30 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | FUS CL E G H | 2521 | 4010 | OMIM:614782 | TREMOR, HEREDITARY ESSENTIAL, 4; ETM4 | | | | 105 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040282 - Frequent | | | 351 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 86 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | . | | | 86 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 1 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:206700 | Gillespie syndrome | . | | | 177 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:98769 | Spinocerebellar ataxia type 15/16 | | | | 177 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | . | | | 35 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | | | | 44 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040283 - Occasional | | | 203 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | | | | 134 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:618524 | MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM | | | | 66 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | HP:0040283 - Occasional | | | 82 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | 65 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:100988 | Autosomal dominant spastic paraplegia type 6 | HP:0040283 - Occasional | | | 117 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:618866 | TREMOR, HEREDITARY ESSENTIAL, 6; ETM6 | | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 27 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040282 - Frequent | | | 163 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | | | | 79 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | HP:0040283 - Occasional | | | 5 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | . | | | 37 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | PRKRA CL E G H | 8575 | 9438 | ORPHA:210571 | Dystonia 16 | HP:0040282 - Frequent | | | 37 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | REEP2 CL E G H | 51308 | 17975 | ORPHA:401849 | Autosomal spastic paraplegia type 72 | HP:0040283 - Occasional | | | 3 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | . | | | 77 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040283 - Occasional | | | 162 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | TENM4 CL E G H | 26011 | 29945 | OMIM:616736 | Tremor, hereditary essential, 5 | | | | 5 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 80 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040283 - Occasional | | | 203 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | . | | | 203 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 2 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | TUBB4A CL E G H | 10382 | 20774 | ORPHA:98805 | Primary dystonia, DYT4 type | | | | 66 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0002174 | HP:0002174 | Postural tremor | 0 | VAPB CL E G H | 9217 | 12649 | OMIM:608627 | Amyotrophic lateral sclerosis 8 | | | | 116 | | |
HP:0002174 | HP:0007351 | Upper limb postural tremor | 1 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | HP:0040283 - Occasional | | | 17 | | |
HP:0002174 | HP:0007351 | Upper limb postural tremor | 1 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040283 - Occasional | | | 32 | | |
HP:0002174 | HP:0007351 | Upper limb postural tremor | 1 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040283 - Occasional | | | 35 | | |
HP:0002174 | HP:0007351 | Upper limb postural tremor | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:464440 | Primary dystonia, DYT27 type | HP:0040282 - Frequent | | | 702 | | |
HP:0002174 | HP:0007351 | Upper limb postural tremor | 1 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:98769 | Spinocerebellar ataxia type 15/16 | HP:0040282 - Frequent | | | 177 | | |
HP:0002174 | HP:0007351 | Upper limb postural tremor | 1 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0002174 | HP:0007351 | Upper limb postural tremor | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 134 | | |
HP:0002174 | HP:0007351 | Upper limb postural tremor | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002174 | HP:0007351 | Upper limb postural tremor | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 79 | | |
HP:0002174 | HP:0007351 | Upper limb postural tremor | 1 | TUBB4A CL E G H | 10382 | 20774 | ORPHA:98805 | Primary dystonia, DYT4 type | HP:0040283 - Occasional | | | 66 | | |