BTD, biotinidase, 686

N. diseases: 9; N. variants: 192
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 187 1.000 definitive 0.988 13 187 1993 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 98 261 0.400 None 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.300 None 1.000 1 2003 2003
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		disease Digestive System Diseases; Chemically-Induced Disorders Injury or Poisoning 404 0.300 None 1.000 1 2004 2004
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 404 1 0.300 None 1.000 1 2004 2004
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 404 0.300 None 1.000 1 2004 2004
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 404 0.300 None 1.000 1 2004 2004
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 404 38 0.300 None 1.000 1 2004 2004
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 404 0.300 None 1.000 1 2004 2004