Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 415 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | | | | 135 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:820 | Sneddon syndrome | | | | 22 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | AIPL1 CL E G H | 23746 | 359 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 114 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:99802 | Hemimegalencephaly | | | | 19 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | | | | 44 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ANGPTL6 CL E G H | 83854 | 23140 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ARG1 CL E G H | 383 | 663 | ORPHA:90 | Argininemia | HP:0040282 - Frequent | | | 31 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | | | | 147 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:3175 | X-linked spasticity-intellectual disability-epilepsy syndrome | | | | 166 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 239 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:104290 | Alternating hemiplegia of childhood 1 | | | | 239 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 239 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | | | | 239 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 150 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:614820 | Alternating hemiplegia of childhood 2 | | | | 150 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | | | | 150 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ATP8 CL E G H | 4509 | 7415 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 43 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 385 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 449 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 449 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:97 | Familial paroxysmal ataxia | | | | 449 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | | | | 449 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040283 - Occasional | | | 242 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 342 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | 86 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | 749 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | COL4A2 CL E G H | 1284 | 2203 | OMIM:614483 | PORENCEPHALY 2; POREN2 | | | | 147 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CPT1A CL E G H | 1374 | 2328 | ORPHA:156 | Carnitine palmitoyl transferase 1A deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 156 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 158 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | | | | 160 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 10 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CYP26C1 CL E G H | 340665 | 20577 | ORPHA:398189 | Focal facial dermal dysplasia type IV | | | | 2 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | | | | 9 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040283 - Occasional | | | 3 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 94 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | | | | 18 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | 186 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 151 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | | | | 4 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | | | | 59 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 172 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 157 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 184 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | | | | 160 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | | | | 160 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | GBE1 CL E G H | 2632 | 4180 | ORPHA:206583 | Adult polyglucosan body disease | | | | 86 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | GDF3 CL E G H | 9573 | 4218 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040283 - Occasional | | | 64 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 64 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 34 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:624 | Familial multiple nevi flammei | | | | 7 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 124 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 21 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | | | | 4 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 1 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | | | | 35 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:510 | Lesch-Nyhan syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | | | | 60 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 148 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 52 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 61 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | KCNJ13 CL E G H | 3769 | 6259 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 42 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | | | | 196 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | L1CAM CL E G H | 3897 | 6470 | ORPHA:2182 | Hydrocephalus with stenosis of the aqueduct of Sylvius | HP:0040281 - Very frequent | | | 134 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | L1CAM CL E G H | 3897 | 6470 | ORPHA:2466 | MASA syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | LAGE3 CL E G H | 8270 | 26058 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 136 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 70 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 62 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | | | | 281 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | MEOX1 CL E G H | 4222 | 7013 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | | | | 183 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:607341 | Focal cortical dysplasia of taylor | | | | 68 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:99802 | Hemimegalencephaly | | | | 68 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 | HP:0040282 - Frequent | | | 47 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | | | | 220 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | NMNAT1 CL E G H | 64802 | 17877 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 15 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | | | | 452 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | | | | 144 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 144 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2591 | Infantile myofibromatosis | HP:0040283 - Occasional | | | 144 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | | | | 13 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 214 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | OSGEP CL E G H | 55644 | 18028 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 41 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:79254 | Classic phenylketonuria | | | | 641 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 11 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:2591 | Infantile myofibromatosis | HP:0040283 - Occasional | | | 28 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040281 - Very frequent | | | 72 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040281 - Very frequent | | | 45 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:99802 | Hemimegalencephaly | | | | 162 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040282 - Frequent | | | 103 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | | | | 3 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 180 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 213 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 221 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 34 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 94 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 3 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | | | | 3 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RD3 CL E G H | 343035 | 19689 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 95 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 45 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | | | | 1 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 129 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 109 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 1 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 1053 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:609634 | Migraine, familial hemiplegic, 3 | | | | 1053 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | | | | 1134 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 48 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SLC12A6 CL E G H | 9990 | 10914 | ORPHA:1496 | Corpus callosum agenesis-neuronopathy syndrome | HP:0040281 - Very frequent | | | 163 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 63 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:209967 | Episodic ataxia type 6 | | | | 63 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | | | | 63 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:71277 | Classic glucose transporter type 1 deficiency syndrome | | | | 255 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:606777 | Glut1 deficiency syndrome 1 | | | | 255 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:99966 | Atypical teratoid rhabdoid tumor | HP:0040282 - Frequent | | | 87 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SNORD118 CL E G H | 727676 | 32952 | OMIM:614561 | Leukoencephalopathy, brain calcifications, and cysts | | | | 6 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 33 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 24 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 48 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | | | | 2 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | | | | 40 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:615338 | Epileptic encephalopathy, early infantile, 16 | | | | 271 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | | | | 271 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:617900 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | | | | 20 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TGFBR3 CL E G H | 7049 | 11774 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | 1 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | THSD1 CL E G H | 55901 | 17754 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | 2 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TLR3 CL E G H | 7098 | 11849 | OMIM:613002 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2 | | | | 3 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | | | | 3 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:2807 | Papilloma of choroid plexus | HP:0040283 - Occasional | | | 911 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TP53RK CL E G H | 112858 | 16197 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TPRKB CL E G H | 51002 | 24259 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | | | | 56 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | | | | 56 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:607341 | Focal cortical dysplasia of taylor | | | | 1090 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:607341 | Focal cortical dysplasia of taylor | | | | 2738 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TTPA CL E G H | 7274 | 12404 | ORPHA:96 | Ataxia with vitamin E deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | | | | 107 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | | | | 39 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | | | | 39 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TUBB4B CL E G H | 10383 | 20771 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 66 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | USP45 CL E G H | 85015 | 20080 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | WDR4 CL E G H | 10785 | 12756 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0004374 | HP:0004374 | Hemiplegia/hemiparesis | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:820 | Sneddon syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | AKT3 CL E G H | 10000 | 393 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 19 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | | | | 44 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ANGPTL6 CL E G H | 83854 | 23140 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:3175 | X-linked spasticity-intellectual disability-epilepsy syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 239 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | ATP1A2 CL E G H | 477 | 800 | OMIM:104290 | Alternating hemiplegia of childhood 1 | | | | 239 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 239 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 239 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | . | | | 239 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | . | | | 239 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 150 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:614820 | Alternating hemiplegia of childhood 2 | . | | | 150 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | . | | | 150 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 1 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 449 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 449 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 449 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:97 | Familial paroxysmal ataxia | HP:0040282 - Frequent | | | 449 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | . | | | 449 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | . | | | 449 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | 749 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | COL4A2 CL E G H | 1284 | 2203 | OMIM:614483 | PORENCEPHALY 2; POREN2 | | | | 147 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | CYP26C1 CL E G H | 340665 | 20577 | ORPHA:398189 | Focal facial dermal dysplasia type IV | HP:0040282 - Frequent | | | 2 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040284 - Very rare | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 94 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | . | | | 217 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | 186 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 1 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 59 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040283 - Occasional | | | 172 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040283 - Occasional | | | 172 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040284 - Very rare | | | 160 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | GBE1 CL E G H | 2632 | 4180 | ORPHA:206583 | Adult polyglucosan body disease | HP:0040281 - Very frequent | | | 86 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:624 | Familial multiple nevi flammei | HP:0040283 - Occasional | | | 7 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:624 | Familial multiple nevi flammei | HP:0040283 - Occasional | | | 7 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 4 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | | | | 35 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 60 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 2 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 1 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040283 - Occasional | | | 196 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040283 - Occasional | | | 196 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 281 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040283 - Occasional | | | 183 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | MTOR CL E G H | 2475 | 3942 | OMIM:607341 | Focal cortical dysplasia of taylor | . | | | 68 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | MTOR CL E G H | 2475 | 3942 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 68 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040283 - Occasional | | | 220 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | | | | 144 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | HP:0040283 - Occasional | | | 13 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 214 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | PAH CL E G H | 5053 | 8582 | ORPHA:79254 | Classic phenylketonuria | HP:0040283 - Occasional | | | 641 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 162 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | . | | | 3 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | . | | | 58 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | 69 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 94 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 94 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | . | | | 1 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 1053 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 1053 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SCN1A CL E G H | 6323 | 10585 | OMIM:609634 | Migraine, familial hemiplegic, 3 | . | | | 1053 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | SCN1A CL E G H | 6323 | 10585 | OMIM:609634 | Migraine, familial hemiplegic, 3 | . | | | 1053 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | HP:0040283 - Occasional | | | 1134 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 63 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:209967 | Episodic ataxia type 6 | HP:0040283 - Occasional | | | 63 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | . | | | 63 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | . | | | 63 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:71277 | Classic glucose transporter type 1 deficiency syndrome | HP:0040282 - Frequent | | | 255 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:606777 | Glut1 deficiency syndrome 1 | . | | | 255 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | SNORD118 CL E G H | 727676 | 32952 | OMIM:614561 | Leukoencephalopathy, brain calcifications, and cysts | . | | | 6 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 2 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | 2 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | . | | | 40 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:615338 | Epileptic encephalopathy, early infantile, 16 | . | | | 271 | | |
HP:0004374 | HP:0002301 | Hemiplegia | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | HP:0040283 - Occasional | | | 271 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | HP:0040283 - Occasional | | | 271 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TBK1 CL E G H | 29110 | 11584 | OMIM:617900 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | . | | | 20 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TGFBR3 CL E G H | 7049 | 11774 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | 1 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | THSD1 CL E G H | 55901 | 17754 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040282 - Frequent | | | 2 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TLR3 CL E G H | 7098 | 11849 | OMIM:613002 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2 | HP:0040284 - Very rare | | | 3 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 3 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040283 - Occasional | | | 56 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:607341 | Focal cortical dysplasia of taylor | . | | | 1090 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:607341 | Focal cortical dysplasia of taylor | . | | | 2738 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | . | | | 107 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | . | | | 39 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | HP:0040282 - Frequent | | | 39 | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0004374 | HP:0001269 | Hemiparesis | 1 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | . | | | 224 | | |
HP:0004374 | HP:0040292 | Left hemiplegia | 2 | CL E G H | | | | | | | | | | |
HP:0004374 | HP:0012194 | Episodic hemiplegia | 2 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040281 - Very frequent | | | 239 | | |
HP:0004374 | HP:0012194 | Episodic hemiplegia | 2 | ATP1A2 CL E G H | 477 | 800 | OMIM:104290 | Alternating hemiplegia of childhood 1 | . | | | 239 | | |
HP:0004374 | HP:0012194 | Episodic hemiplegia | 2 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040281 - Very frequent | | | 150 | | |
HP:0004374 | HP:0012194 | Episodic hemiplegia | 2 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040281 - Very frequent | | | 449 | | |
HP:0004374 | HP:0040293 | Right hemiplegia | 2 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0004374 | HP:0011099 | Spastic hemiparesis | 2 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040284 - Very rare | | | 35 | | |
HP:0004374 | HP:0011099 | Spastic hemiparesis | 2 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0004374 | HP:0012194 | Episodic hemiplegia | 2 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040281 - Very frequent | | | 63 | | |
HP:0004374 | HP:0011099 | Spastic hemiparesis | 2 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619616 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS | | | | | | |