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.
3-methylcrotonyl CoA carboxylase 2 deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 42 0.600 19 42 1982 2017
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: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 121 1 0.400 limited 0
3-methylcrotonyl CoA carboxylase 1 deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 5 22 0.320 1.000 2 2006 2012
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 78 0.110 1.000 1 2004 2004
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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0543541
Disease: HYPERGLYCINURIA (disorder)
HYPERGLYCINURIA (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 15 1 0.100 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 214 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0341706
Disease: Glycinuria
Glycinuria
disease Disease or Syndrome 13 0.100 0
CUI: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 227 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
Neurogenic muscle atrophy, especially in the lower limbs
phenotype Finding 214 0.100 0
CUI: C4025341
Disease: Abnormality of leucine metabolism
Abnormality of leucine metabolism
phenotype Finding 2 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C3806554
Disease: Dysseborrheic dermatitis
Dysseborrheic dermatitis
disease Disease or Syndrome 17 0.100 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Disease or Syndrome 542 0.100 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy
phenotype Finding 46 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia
phenotype Finding 2 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
phenotype Finding 528 0.100 0
CUI: C0241775
Disease: Organic aciduria
Organic aciduria
phenotype Finding 10 0.100 0