* We recommend a score >= 0.08 for meaningful Gene-Disease associations
GeneID | Gene_Symbol | DisGeNet_diseaseID | Disease_name | ![]() | DisGeNet_sourceDB |
11284 | PNKP | C3150667 | MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY | 0.400274726784213 | BEFREE;CTD_human;UNIPROT |
11284 | PNKP | C0036572 | Seizures | 0.400274726784213 | BEFREE;CTD_human;HPO |
11284 | PNKP | C4225397 | ATAXIA-OCULOMOTOR APRAXIA 4 | 0.4 | ORPHANET;UNIPROT |
11284 | PNKP | C0262404 | Cerebellar degeneration | 0.200274726784213 | BEFREE;HPO |
11284 | PNKP | C0025958 | Microcephaly | 0.200274726784213 | BEFREE;CTD_human |
11284 | PNKP | C0344482 | Hypoplasia of corpus callosum | 0.2 | HPO |
11284 | PNKP | C0393706 | Early infantile epileptic encephalopathy with suppression bursts | 0.2 | ORPHANET |
11284 | PNKP | C0424295 | Hyperactive behavior | 0.2 | HPO |
11284 | PNKP | C0442874 | Neuropathy | 0.2 | HPO |
11284 | PNKP | C0541794 | Skeletal muscle atrophy | 0.2 | HPO |
11284 | PNKP | C0543888 | Epileptic encephalopathy | 0.2 | HPO |
11284 | PNKP | C0740279 | Atrophy of cerebellum | 0.2 | HPO |
11284 | PNKP | C1563696 | DNA Repair-Deficiency Disorders | 0.2 | CTD_human |
11284 | PNKP | C1838681 | Rapidly progressive | 0.2 | HPO |
11284 | PNKP | C1843479 | Neurogenic muscle atrophy, especially in the lower limbs | 0.2 | HPO |
11284 | PNKP | C1850456 | Progressive microcephaly | 0.2 | HPO |
11284 | PNKP | C1850776 | Rapidly progressive disorder | 0.2 | HPO |
11284 | PNKP | C1854301 | Motor delay | 0.2 | HPO |
11284 | PNKP | C2749675 | Cortical gyral simplification | 0.2 | HPO |
11284 | PNKP | C3278923 | Dilated ventricles (finding) | 0.2 | HPO |
11284 | PNKP | C3489733 | Oculomotor apraxia | 0.2 | HPO |
11284 | PNKP | C4020871 | Dystonic disease | 0.2 | HPO |
11284 | PNKP | C4020873 | Infratentorial atrophy | 0.2 | HPO |
11284 | PNKP | C4020874 | No development of motor milestones | 0.2 | HPO |
11284 | PNKP | C4020886 | Defective or absent horizontal voluntary eye movements | 0.2 | HPO |
11284 | PNKP | C4020899 | Autosomal recessive predisposition | 0.2 | HPO |
11284 | PNKP | C0278124 | Absent tendon reflex | 0.2 | HPO |
11284 | PNKP | C0007758 | Cerebellar Ataxia | 0.2 | HPO |
11284 | PNKP | C0008073 | Developmental Disabilities | 0.2 | CTD_human |
11284 | PNKP | C0013421 | Dystonia | 0.2 | HPO |
11284 | PNKP | C0014544 | Epilepsy | 0.2 | HPO |
11284 | PNKP | C0026827 | Muscle hypotonia | 0.2 | HPO |
11284 | PNKP | C0031117 | Peripheral Neuropathy | 0.2 | HPO |
11284 | PNKP | C0034372 | Quadriplegia | 0.2 | HPO |
11284 | PNKP | C0036857 | Severe mental retardation (I.Q. 20-34) | 0.2 | HPO |
11284 | PNKP | C0234146 | Absent reflex | 0.2 | HPO |
11284 | PNKP | C0241772 | Reflex, Deep Tendon, Absent | 0.2 | HPO |
11284 | PNKP | C0270948 | Neurogenic Muscular Atrophy | 0.2 | HPO |
11284 | PNKP | C0234958 | muscle degeneration | 0.2 | HPO |
11284 | PNKP | C0376545 | Hematologic Neoplasms | 0.002407028523288 | GAD |
11284 | PNKP | C0009375 | Colonic Neoplasms | 0.002407028523288 | GAD |
11284 | PNKP | C0009376 | Colonic Polyps | 0.002407028523288 | GAD |
11284 | PNKP | C0001430 | Adenoma | 0.002407028523288 | GAD |
11284 | PNKP | C0027643 | Neoplasm Recurrence, Local | 0.002407028523288 | GAD |
11284 | PNKP | C0018133 | Graft-vs-Host Disease | 0.002407028523288 | GAD |
11284 | PNKP | C0026769 | Multiple Sclerosis | 0.002407028523288 | GAD |
11284 | PNKP | C0024408 | Machado-Joseph Disease | 0.0005494535684262 | BEFREE |
11284 | PNKP | C1859598 | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | 0.0002747267842131 | BEFREE |
11284 | PNKP | C0004135 | Ataxia Telangiectasia | 0.0002747267842131 | BEFREE |
11284 | PNKP | C0332996 | Persistent embryonic structure | 0.0002747267842131 | BEFREE |
11284 | PNKP | C0424605 | Developmental delay (disorder) | 0.0002747267842131 | BEFREE |
11284 | PNKP | C1853761 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 | 0.0002747267842131 | BEFREE |
11284 | PNKP | C0027765 | nervous system disorder | 0.0002747267842131 | BEFREE |
11284 | PNKP | C0431350 | Primary microcephaly | 0.0002747267842131 | BEFREE |
11284 | PNKP | C0524851 | Neurodegenerative Disorders | 0.0002747267842131 | BEFREE |
11284 | PNKP | C1096184 | West Nile viral infection | 0.0002747267842131 | BEFREE |
11284 | PNKP | C0152025 | Polyneuropathy | 0.0002747267842131 | BEFREE |
11284 | PNKP | C0557874 | Global developmental delay | 0.0002747267842131 | BEFREE |