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:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040283 - Occasional | | | 19 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | BEAN1 CL E G H | 146227 | 24160 | ORPHA:217012 | Spinocerebellar ataxia type 31 | HP:0040283 - Occasional | | | 1 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040282 - Frequent | | | 114 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:330050 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040283 - Occasional | | | 94 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040283 - Occasional | | | 17 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | . | | | | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040283 - Occasional | | | 532 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040284 - Very rare | | | 79 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98811 | Paroxysmal exertion-induced dyskinesia | HP:0040282 - Frequent | | | 94 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | PRSS12 CL E G H | 8492 | 9477 | OMIM:249500 | Mental retardation, autosomal recessive 1 | . | | | 73 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | . | | | 4 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 304 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 16 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 129 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:98811 | Paroxysmal exertion-induced dyskinesia | HP:0040282 - Frequent | | | 255 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | . | | | 12 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0006801 | HP:0006801 | Hyperactive deep tendon reflexes | 0 | UROC1 CL E G H | 131669 | 26444 | ORPHA:210128 | Urocanic aciduria | HP:0040281 - Very frequent | | | 8 | | |