MCCC1, methylcrotonoyl-CoA carboxylase 1, 56922

N. diseases: 42; N. variants: 57
Source: ALL
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: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 50 0.730 definitive 1.000 18 50 2001 2016
CUI: C4551505
Disease: Methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-CoA carboxylase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 1 0.130 None 1.000 5 1 2001 2016
CUI: C3539168
Disease: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A 		disease Disease or Syndrome 34 3 0.010 None 1.000 1 2001 2001
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		disease Infections Disease or Syndrome 166 38 0.010 None < 0.001 1 2003 2003
CUI: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum 		disease Infections Disease or Syndrome 158 19 0.010 None 1.000 1 2003 2003
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.170 None 1.000 13 7 2011 2017
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2011 2011
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 179 65 0.020 None 1.000 2 2013 2016
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 461 38 0.300 None 1.000 1 2015 2015
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 412 0.300 None 1.000 1 2015 2015
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 413 0.300 None 1.000 1 2015 2015
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		disease Digestive System Diseases; Chemically-Induced Disorders Injury or Poisoning 412 0.300 None 1.000 1 2015 2015
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 418 0.300 None 1.000 1 2015 2015
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29 0.300 None 1.000 1 2015 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 1 2017 2017