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

GeneID Gene_Symbol DisGeNet_diseaseID Disease_name DisGeNet score DisGeNet_sourceDB
593BCKDHAC0024776Maple Syrup Urine Disease0.610620121295047BEFREE;CTD_human;GAD;LHGDN;ORPHANET;UNIPROT
593BCKDHAC0235430Ketonemia0.2HPO
593BCKDHAC0235153Hallucinations, Sensory0.2HPO
593BCKDHAC0262361abnormal growth0.2HPO
593BCKDHAC0268568Classic Maple Syrup Urine Disease0.2ORPHANET
593BCKDHAC0268569Intermittent Maple Syrup Urine Disease0.2ORPHANET
593BCKDHAC0347959Lactic acidemia0.2HPO
593BCKDHAC0423903Low intelligence0.2HPO
593BCKDHAC0751285Maple Syrup Urine Disease, Thiamine Responsive0.2ORPHANET
593BCKDHAC0917816Mental deficiency0.2HPO
593BCKDHAC1527311Brain Edema0.2HPO
593BCKDHAC1621920Intermediate Maple Syrup Urine Disease0.2ORPHANET
593BCKDHAC1843367Poor school performance0.2HPO
593BCKDHAC2674608Feeding difficulties in infancy0.2HPO
593BCKDHAC3714756Intellectual Disability0.2HPO
593BCKDHAC4020876Dull intelligence0.2HPO
593BCKDHAC4020899Autosomal recessive predisposition0.2HPO
593BCKDHAC4024697Elevated plasma branched chain amino acids0.2HPO
593BCKDHAC0001125Acidosis, Lactic0.2HPO
593BCKDHAC0042963Vomiting0.2HPO
593BCKDHAC0036572Seizures0.2HPO
593BCKDHAC0030305Pancreatitis0.2HPO
593BCKDHAC0026827Muscle hypotonia0.2HPO
593BCKDHAC0026826Muscle Hypertonia0.2HPO
593BCKDHAC0025362Mental Retardation0.2HPO
593BCKDHAC0023380Lethargy0.2HPO
593BCKDHAC0022638Ketosis0.2HPO
593BCKDHAC0020615Hypoglycemia0.2HPO
593BCKDHAC0018524Hallucinations0.2HPO
593BCKDHAC0014544Epilepsy0.2HPO
593BCKDHAC0009421Comatose0.2HPO
593BCKDHAC0007758Cerebellar Ataxia0.2HPO
593BCKDHAC0006114Cerebral Edema0.2HPO
593BCKDHAC0149896Primary gout0.0002747267842131BEFREE