* We recommend a score >= 0.08 for meaningful Gene-Disease associations
GeneID | Gene_Symbol | DisGeNet_diseaseID | Disease_name | ![]() | DisGeNet_sourceDB |
593 | BCKDHA | C0024776 | Maple Syrup Urine Disease | 0.610620121295047 | BEFREE;CTD_human;GAD;LHGDN;ORPHANET;UNIPROT |
593 | BCKDHA | C0235430 | Ketonemia | 0.2 | HPO |
593 | BCKDHA | C0235153 | Hallucinations, Sensory | 0.2 | HPO |
593 | BCKDHA | C0262361 | abnormal growth | 0.2 | HPO |
593 | BCKDHA | C0268568 | Classic Maple Syrup Urine Disease | 0.2 | ORPHANET |
593 | BCKDHA | C0268569 | Intermittent Maple Syrup Urine Disease | 0.2 | ORPHANET |
593 | BCKDHA | C0347959 | Lactic acidemia | 0.2 | HPO |
593 | BCKDHA | C0423903 | Low intelligence | 0.2 | HPO |
593 | BCKDHA | C0751285 | Maple Syrup Urine Disease, Thiamine Responsive | 0.2 | ORPHANET |
593 | BCKDHA | C0917816 | Mental deficiency | 0.2 | HPO |
593 | BCKDHA | C1527311 | Brain Edema | 0.2 | HPO |
593 | BCKDHA | C1621920 | Intermediate Maple Syrup Urine Disease | 0.2 | ORPHANET |
593 | BCKDHA | C1843367 | Poor school performance | 0.2 | HPO |
593 | BCKDHA | C2674608 | Feeding difficulties in infancy | 0.2 | HPO |
593 | BCKDHA | C3714756 | Intellectual Disability | 0.2 | HPO |
593 | BCKDHA | C4020876 | Dull intelligence | 0.2 | HPO |
593 | BCKDHA | C4020899 | Autosomal recessive predisposition | 0.2 | HPO |
593 | BCKDHA | C4024697 | Elevated plasma branched chain amino acids | 0.2 | HPO |
593 | BCKDHA | C0001125 | Acidosis, Lactic | 0.2 | HPO |
593 | BCKDHA | C0042963 | Vomiting | 0.2 | HPO |
593 | BCKDHA | C0036572 | Seizures | 0.2 | HPO |
593 | BCKDHA | C0030305 | Pancreatitis | 0.2 | HPO |
593 | BCKDHA | C0026827 | Muscle hypotonia | 0.2 | HPO |
593 | BCKDHA | C0026826 | Muscle Hypertonia | 0.2 | HPO |
593 | BCKDHA | C0025362 | Mental Retardation | 0.2 | HPO |
593 | BCKDHA | C0023380 | Lethargy | 0.2 | HPO |
593 | BCKDHA | C0022638 | Ketosis | 0.2 | HPO |
593 | BCKDHA | C0020615 | Hypoglycemia | 0.2 | HPO |
593 | BCKDHA | C0018524 | Hallucinations | 0.2 | HPO |
593 | BCKDHA | C0014544 | Epilepsy | 0.2 | HPO |
593 | BCKDHA | C0009421 | Comatose | 0.2 | HPO |
593 | BCKDHA | C0007758 | Cerebellar Ataxia | 0.2 | HPO |
593 | BCKDHA | C0006114 | Cerebral Edema | 0.2 | HPO |
593 | BCKDHA | C0149896 | Primary gout | 0.0002747267842131 | BEFREE |