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.
Methylmalonic Aciduria and Homocystinuria, CblD Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 13 0.700 6 13 1970 2016
Homocystinuria, CblD Type, Variant 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 3 0.600 4 3 2004 2016
Methylmalonic Aciduria, CblD Type, Variant 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 6 0.600 4 6 2004 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 26 11 0.120 1.000 2 2008 2009
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 29 16 0.120 1.000 2 2008 2009
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 28 2 0.120 1.000 2 2008 2009
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin
phenotype Finding 6 0.100 0
CUI: C1848555
Disease: Hypomethioninemia
Hypomethioninemia
phenotype Finding 4 0.100 0
CUI: C0855791
Disease: Increased mean corpuscular volume
Increased mean corpuscular volume
phenotype Finding 7 0.100 0
Decreased methylmalonyl-CoA mutase activity
phenotype Finding 4 0.100 0
Decreased methionine synthase activity
phenotype Finding 5 0.100 0
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 23 2 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Disease or Syndrome 542 0.100 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia
phenotype Finding 7 0.100 0
CUI: C4020871
Disease: Dystonic disease
Dystonic disease
disease Disease or Syndrome 147 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0
CUI: C4021736
Disease: Decreased methylcobalamin
Decreased methylcobalamin
phenotype Finding 5 0.100 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
phenotype Finding 528 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0