MCEE, methylmalonyl-CoA epimerase, 84693

N. diseases: 12; N. variants: 3
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: C1855100
Disease: Methylmalonyl-CoA Epimerase Deficiency
Methylmalonyl-CoA Epimerase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 3 0.700 None 1.000 7 3 2006 2017
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 35 0.160 None 1.000 6 2006 2019
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 33 4 0.140 None 1.000 4 2006 2019
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0162275
Disease: Ketonuria
Ketonuria 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 1 0.100 None 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0011175
Disease: Dehydration
Dehydration 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.100 None 0
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.010 None 1.000 1 2019 2019
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None < 0.001 1 2006 2006
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 10 9 0.010 None 1.000 1 2017 2017
CUI: C0276096
Disease: Mastitis-metritis-agalactia syndrome
Mastitis-metritis-agalactia syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Skin and Connective Tissue Diseases Disease or Syndrome 23 3 0.010 None 1.000 1 2018 2018