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: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 2 58 0.950 definitive 1.000 61 58 2001 2019
CUI: C4693974
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 		disease Disease or Syndrome 2 5 0.800 definitive 1.000 11 5 2006 2018
CUI: C1272348
Disease: Disorder of vitamin B12
Disorder of vitamin B12 		disease Disease or Syndrome 2 0.020 None 1.000 2 2010 2015
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 169 0.100 None 0 2
CUI: C0238801
Disease: Bone marrow megaloblastic (finding)
Bone marrow megaloblastic (finding) 		phenotype Laboratory or Test Result 4 0.100 None 0
CUI: C0268618
Disease: Cystathioninemia
Cystathioninemia 		disease Disease or Syndrome 4 0.100 None 0
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 2 0.100 None 0
CUI: C1848555
Disease: Hypomethioninemia
Hypomethioninemia 		phenotype Finding 5 0.100 None 0
CUI: C1848579
Disease: Decreased methylmalonyl-CoA mutase activity
Decreased methylmalonyl-CoA mutase activity 		phenotype Finding 5 0.100 None 0
CUI: C1848580
Disease: Decreased methionine synthase activity
Decreased methionine synthase activity 		phenotype Finding 6 1 0.100 None 0
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin 		phenotype Finding 7 0.100 None 0
CUI: C4021736
Disease: Decreased methylcobalamin
Decreased methylcobalamin 		phenotype Finding 7 0.100 None 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		phenotype Finding 11 1 0.100 None 0
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 15 22 0.010 None 1.000 1 2015 2015
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 0.020 None 1.000 2 2010 2017
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		phenotype Laboratory Procedure 23 33 0.100 None 1.000 1 1 2013 2013
CUI: C0040038
Disease: Thromboembolism
Thromboembolism 		phenotype Cardiovascular Diseases Pathologic Function 25 3 0.100 None 0
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.110 None 1.000 1 2013 2013
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 29 11 0.020 None 1.000 2 2011 2015
CUI: C0013144
Disease: Drowsiness
Drowsiness 		phenotype Mental Disorders Finding 31 3 0.100 None 0 1
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 33 4 0.440 moderate 1.000 5 2010 2018
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 39 27 0.130 None 1.000 3 2010 2018
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 42 385 0.010 None 1.000 1 2018 2018
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 35 0.170 None 1.000 7 1 2006 2018
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 80 16 0.010 None 1.000 1 2014 2014