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: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None 1.000 1 2017 2017
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		disease Anatomical Abnormality 21 4 0.100 None 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.020 None 0.500 2 3 2003 2016
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: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 0 1
CUI: C0039075
Disease: Syndactyly
Syndactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 127 26 0.100 None 0 1
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 35 0.500 None 0.961 76 25 1977 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: 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: 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: 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: 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: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.020 None 0.500 2 2006 2017
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: 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 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
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2019 2019
CUI: C0012546
Disease: Diphtheria
Diphtheria 		disease Infections Disease or Syndrome 147 0.010 None 1.000 1 2019 2019
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: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2017 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2017 2017
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: C0021400
Disease: Influenza
Influenza 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.010 None 1.000 1 2019 2019