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

GeneID Gene_Symbol DisGeNet_diseaseID Disease_name DisGeNet score DisGeNet_sourceDB
54704PDP1C1837429Pyruvate dehydrogenase phosphatase deficiency0.4CTD_human;ORPHANET
54704PDP1C0001125Acidosis, Lactic0.200824180352639BEFREE;HPO
54704PDP1C0557874Global developmental delay0.200549453568426BEFREE;HPO
54704PDP1C0014544Epilepsy0.200274726784213BEFREE;HPO
54704PDP1C0011168Deglutition Disorders0.2HPO
54704PDP1C0025362Mental Retardation0.2HPO
54704PDP1C0026827Muscle hypotonia0.2HPO
54704PDP1C0028738Nystagmus0.2HPO
54704PDP1C0036572Seizures0.2HPO
54704PDP1C0347959Lactic acidemia0.2HPO
54704PDP1C0423903Low intelligence0.2HPO
54704PDP1C0751837Gait Ataxia0.2HPO
54704PDP1C0917816Mental deficiency0.2HPO
54704PDP1C1839888Decreased activity of the pyruvate dehydrogenase complex0.2HPO
54704PDP1C1843367Poor school performance0.2HPO
54704PDP1C1848924Infantile onset0.2HPO
54704PDP1C1864897Cognitive delay0.2HPO
54704PDP1C3714756Intellectual Disability0.2HPO
54704PDP1C4020875Mental and motor retardation0.2HPO
54704PDP1C4020876Dull intelligence0.2HPO
54704PDP1C4020899Autosomal recessive predisposition0.2HPO
54704PDP1C0001122Acidosis0.00273291246481375LHGDN
54704PDP1C0023264Leigh Disease0.0005494535684262BEFREE
54704PDP1C0424605Developmental delay (disorder)0.0005494535684262BEFREE
54704PDP1C0002395Alzheimer's Disease0.0002747267842131BEFREE
54704PDP1C0006111Brain Diseases0.0002747267842131BEFREE
54704PDP1C0008312Primary biliary cirrhosis0.0002747267842131BEFREE
54704PDP1C0017160Gastroenteritis0.0002747267842131BEFREE
54704PDP1C0023418leukemia0.0002747267842131BEFREE
54704PDP1C0034345Pyruvate Dehydrogenase Complex Deficiency Disease0.0002747267842131BEFREE
54704PDP1C0085584Encephalopathies0.0002747267842131BEFREE
54704PDP1C0268193NADH cytochrome B5 reductase deficiency0.0002747267842131BEFREE
54704PDP1C3492932Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency0.0002747267842131BEFREE
54704PDP1C3887505DYSFUNCTION - SKIN DISORDERS0.0002747267842131BEFREE