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:0002375 | HP:0002375 | Hypokinesia | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | . | | | 60 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040283 - Occasional | | | 41 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 91 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | . | | | 26 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | | | | 4 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | . | | | 63 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | . | | | 18 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 28 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040281 - Very frequent | | | 411 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | . | | | 211 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | . | | | 134 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | . | | | 60 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | . | | | 185 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 72 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | PDE8B CL E G H | 8622 | 8794 | OMIM:609161 | Striatal degeneration, autosomal dominant | . | | | 75 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | HP:0040283 - Occasional | | | 5 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 73 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 2 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 1 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | . | | | 47 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | SLC6A3 CL E G H | 6531 | 11049 | ORPHA:238455 | Infantile dystonia-parkinsonism | HP:0040282 - Frequent | | | 13 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 80 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | TH CL E G H | 7054 | 11782 | OMIM:605407 | Segawa syndrome, autosomal recessive | . | | | 80 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 2 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 106 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0002375 | HP:0002375 | Hypokinesia | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:616211 | Epileptic encephalopathy, early infantile, 28 | . | | | 149 | | |
HP:0002375 | HP:0033414 | Lower extremity hypokinesia | 1 | CL E G H | | | | | | | | | | |
HP:0002375 | HP:0033413 | Upper extremity hypokinesia | 1 | CL E G H | | | | | | | | | | |