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.
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 1 0.730 None 1.000 5 1 2006 2017
CUI: C4039473
Disease: 3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 1.000 2 2012 2016
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.140 None 1.000 4 2006 2016
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.130 None 1.000 3 2006 2019
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 17 5 0.110 None 1.000 1 2012 2012
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 1 0.110 None 1.000 1 2016 2016
CUI: C4024932
Disease: Bilateral basal ganglia lesions
Bilateral basal ganglia lesions
phenotype Finding 2 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy
disease Disease or Syndrome 56 6 0.100 None 0
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 43 5 0.100 None 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C0685707
Disease: Muscular ventricular septum defect
Muscular ventricular septum defect
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 9 4 0.100 None 0
CUI: C1845029
Disease: Nonprogressive cerebellar ataxia
Nonprogressive cerebellar ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 9 1 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
Atrophy/Degeneration affecting the brainstem
disease Disease or Syndrome 27 2 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C3151952
Disease: 3-Methylglutaric aciduria
3-Methylglutaric aciduria
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding 3 1 0.100 None 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0
CUI: C1969697
Disease: Repetitive compulsive behavior
Repetitive compulsive behavior
disease Mental Disorders Mental or Behavioral Dysfunction 6 4 0.100 None 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation
phenotype Finding 121 11 0.100 None 0
CUI: C4025603
Disease: Glutaric acidemia
Glutaric acidemia
phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis
phenotype Digestive System Diseases Finding 11 0.100 None 0
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 15 0.100 None 0