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:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | | | | | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | ADCY5 CL E G H | 111 | 236 | ORPHA:324588 | Familial dyskinesia and facial myokymia | HP:0040281 - Very frequent | | | 25 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | ATXN7 CL E G H | 6314 | 10560 | OMIM:164500 | Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II | . | | | 8 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040282 - Frequent | | | 8 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | . | | | 42 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040282 - Frequent | | | 114 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | | | | 47 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040282 - Frequent | | | 33 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | | | | 30 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:617493 | Neurodevelopmental disorder with involuntary movements | . | | | 36 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | IREB2 CL E G H | 3658 | 6115 | OMIM:618451 | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | . | | | | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | JAM2 CL E G H | 58494 | 14686 | OMIM:618824 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 | | | | | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040283 - Occasional | | | 191 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040282 - Frequent | | | 14 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040282 - Frequent | | | 532 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration | . | | | 55 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | PDE10A CL E G H | 10846 | 8772 | OMIM:616921 | Dyskinesia, limb and orofacial, infantile-onset | . | | | 5 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494526 | Infantile-onset generalized dyskinesia with orofacial involvement | HP:0040281 - Very frequent | | | 5 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | HP:0040283 - Occasional | | | 60 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | HP:0040283 - Occasional | | | 60 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | PRKRA CL E G H | 8575 | 9438 | ORPHA:210571 | Dystonia 16 | HP:0040282 - Frequent | | | 37 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | PRRT2 CL E G H | 112476 | 30500 | OMIM:128200 | Episodic kinesigenic dyskinesia 1 | . | | | 94 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | . | | | 24 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | SLC6A3 CL E G H | 6531 | 11049 | ORPHA:238455 | Infantile dystonia-parkinsonism | HP:0040282 - Frequent | | | 13 | | |
HP:0002310 | HP:0002310 | Orofacial dyskinesia | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |