* We recommend a score >= 0.08 for meaningful Gene-Disease associations

GeneID Gene_Symbol DisGeNet_diseaseID Disease_name DisGeNet score DisGeNet_sourceDB
11284PNKPC3150667MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY0.400274726784213BEFREE;CTD_human;UNIPROT
11284PNKPC0036572Seizures0.400274726784213BEFREE;CTD_human;HPO
11284PNKPC4225397ATAXIA-OCULOMOTOR APRAXIA 40.4ORPHANET;UNIPROT
11284PNKPC0262404Cerebellar degeneration0.200274726784213BEFREE;HPO
11284PNKPC0025958Microcephaly0.200274726784213BEFREE;CTD_human
11284PNKPC0344482Hypoplasia of corpus callosum0.2HPO
11284PNKPC0393706Early infantile epileptic encephalopathy with suppression bursts0.2ORPHANET
11284PNKPC0424295Hyperactive behavior0.2HPO
11284PNKPC0442874Neuropathy0.2HPO
11284PNKPC0541794Skeletal muscle atrophy0.2HPO
11284PNKPC0543888Epileptic encephalopathy0.2HPO
11284PNKPC0740279Atrophy of cerebellum0.2HPO
11284PNKPC1563696DNA Repair-Deficiency Disorders0.2CTD_human
11284PNKPC1838681Rapidly progressive0.2HPO
11284PNKPC1843479Neurogenic muscle atrophy, especially in the lower limbs0.2HPO
11284PNKPC1850456Progressive microcephaly0.2HPO
11284PNKPC1850776Rapidly progressive disorder0.2HPO
11284PNKPC1854301Motor delay0.2HPO
11284PNKPC2749675Cortical gyral simplification0.2HPO
11284PNKPC3278923Dilated ventricles (finding)0.2HPO
11284PNKPC3489733Oculomotor apraxia0.2HPO
11284PNKPC4020871Dystonic disease0.2HPO
11284PNKPC4020873Infratentorial atrophy0.2HPO
11284PNKPC4020874No development of motor milestones0.2HPO
11284PNKPC4020886Defective or absent horizontal voluntary eye movements0.2HPO
11284PNKPC4020899Autosomal recessive predisposition0.2HPO
11284PNKPC0278124Absent tendon reflex0.2HPO
11284PNKPC0007758Cerebellar Ataxia0.2HPO
11284PNKPC0008073Developmental Disabilities0.2CTD_human
11284PNKPC0013421Dystonia0.2HPO
11284PNKPC0014544Epilepsy0.2HPO
11284PNKPC0026827Muscle hypotonia0.2HPO
11284PNKPC0031117Peripheral Neuropathy0.2HPO
11284PNKPC0034372Quadriplegia0.2HPO
11284PNKPC0036857Severe mental retardation (I.Q. 20-34)0.2HPO
11284PNKPC0234146Absent reflex0.2HPO
11284PNKPC0241772Reflex, Deep Tendon, Absent0.2HPO
11284PNKPC0270948Neurogenic Muscular Atrophy0.2HPO
11284PNKPC0234958muscle degeneration0.2HPO
11284PNKPC0376545Hematologic Neoplasms0.002407028523288GAD
11284PNKPC0009375Colonic Neoplasms0.002407028523288GAD
11284PNKPC0009376Colonic Polyps0.002407028523288GAD
11284PNKPC0001430Adenoma0.002407028523288GAD
11284PNKPC0027643Neoplasm Recurrence, Local0.002407028523288GAD
11284PNKPC0018133Graft-vs-Host Disease0.002407028523288GAD
11284PNKPC0026769Multiple Sclerosis0.002407028523288GAD
11284PNKPC0024408Machado-Joseph Disease0.0005494535684262BEFREE
11284PNKPC1859598ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA0.0002747267842131BEFREE
11284PNKPC0004135Ataxia Telangiectasia0.0002747267842131BEFREE
11284PNKPC0332996Persistent embryonic structure0.0002747267842131BEFREE
11284PNKPC0424605Developmental delay (disorder)0.0002747267842131BEFREE
11284PNKPC1853761SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10.0002747267842131BEFREE
11284PNKPC0027765nervous system disorder0.0002747267842131BEFREE
11284PNKPC0431350Primary microcephaly0.0002747267842131BEFREE
11284PNKPC0524851Neurodegenerative Disorders0.0002747267842131BEFREE
11284PNKPC1096184West Nile viral infection0.0002747267842131BEFREE
11284PNKPC0152025Polyneuropathy0.0002747267842131BEFREE
11284PNKPC0557874Global developmental delay0.0002747267842131BEFREE