MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
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: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 11 0.800 limited 1.000 3 11 2003 2016
CUI: C1855116
Disease: Methylmalonic Aciduria, mut(-) Type
Methylmalonic Aciduria, mut(-) Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 2 0.600 None 1.000 3 2 2003 2016
CUI: C1263739
Disease: Disorder of organic acid metabolism
Disorder of organic acid metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C2931536
Disease: Methylmalonyl-Coenzyme A mutase deficiency
Methylmalonyl-Coenzyme A mutase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2020 2020
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 0.900 definitive 1.000 76 166 1972 2017
CUI: C0348484
Disease: Other disorders of branched-chain amino-acid metabolism
Other disorders of branched-chain amino-acid metabolism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 0.200 None 1.000 3 2003 2016
CUI: C1854704
Disease: Metabolic Ketosis
Metabolic Ketosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 3 0.100 None 0
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		disease Disease or Syndrome 5 5 0.010 None 1.000 1 1998 1998
CUI: C4049005
Disease: Cataract, total congenital with posterior sutural opacities in Heterozygotes
Cataract, total congenital with posterior sutural opacities in Heterozygotes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 8 0.010 None 1.000 1 2016 2016
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT 		phenotype Laboratory Procedure 13 22 0.100 None 1.000 1 1 2009 2009
CUI: C0268559
Disease: Hyperglycinemia
Hyperglycinemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 14 0.100 None 0
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 17 124 0.010 None 1.000 1 2019 2019
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 18 18 0.020 None 1.000 2 2019 2019
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 18 15 0.010 None 1.000 1 2011 2011
CUI: C0009946
Disease: Conversion disorder
Conversion disorder 		group Mental Disorders Mental or Behavioral Dysfunction 21 1 0.010 None 1.000 1 2018 2018
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		disease Anatomical Abnormality 21 4 0.100 None 0
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 0.100 None 0.964 28 3 1990 2019
CUI: C0032371
Disease: Poliomyelitis
Poliomyelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 23 0.010 None 1.000 1 2019 2019
CUI: C0346210
Disease: Vulval intraepithelial neoplasia
Vulval intraepithelial neoplasia 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 29 0.010 None 1.000 1 2003 2003
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 33 4 0.700 strong 0.963 27 3 1991 2020
CUI: C0262401
Disease: Carcinoma of ampulla of Vater
Carcinoma of ampulla of Vater 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 37 4 0.010 None 1.000 1 1998 1998
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 0.010 None 1.000 1 1997 1997
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 41 12 0.010 None 1.000 1 2013 2013
CUI: C0007867
Disease: Cervix Diseases
Cervix Diseases 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 43 3 0.010 None 1.000 1 2018 2018