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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 39 45 0.650 moderate 1.000 15 2 1993 2019
CUI: C3278155
Disease: GLUTARIC ACIDEMIA IIB
GLUTARIC ACIDEMIA IIB
disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2016 2016
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.300 limited 1.000 1 2016 2016
Erythrocyte Mean Corpuscular Hemoglobin Test
phenotype Laboratory Procedure 13 0.300 limited 1.000 1 2016 2016
CUI: C1856405
Disease: Glutaric Aciduria IIC
Glutaric Aciduria IIC
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1856401
Disease: Glutaric Aciduria IIA
Glutaric Aciduria IIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1856403
Disease: Glutaric Aciduria IIB
Glutaric Aciduria IIB
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C0546389
Disease: Hepatic periportal necrosis
Hepatic periportal necrosis
disease Disease or Syndrome 3 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0
CUI: C0423113
Disease: Telecanthus
Telecanthus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 36 4 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 85 9 0.100 None 0
CUI: C0410916
Disease: Neonatal Death
Neonatal Death
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 27 10 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 37 0.100 None 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria
phenotype Finding 11 0.100 None 0
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria
phenotype Finding 6 0.100 None 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel
phenotype Finding 71 5 0.100 None 0
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts
phenotype Finding 14 1 0.100 None 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.100 None 0
Electron transfer flavoprotein-ubiquinone oxidoreductase defect
phenotype Finding 3 0.100 None 0
CUI: C4025603
Disease: Glutaric acidemia
Glutaric acidemia
phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria
phenotype Disease or Syndrome 8 0.100 None 0
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.100 None 0