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: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT
disease Disease or Syndrome 1 7 0.700 strong 1.000 6 7 2009 2016
CUI: C1838854
Disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED
DEAFNESS, AMINOGLYCOSIDE-INDUCED
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 1 0.500 strong 1.000 1 2016 2016
Deafness, Sensorineural, Autosomal-Mitochondrial Type
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2013 2013
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
disease Disease or Syndrome 4 6 0.300 None 1.000 1 2011 2011
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.220 None 1.000 2 2011 2017
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
disease Digestive System Diseases Disease or Syndrome 282 21 0.110 None 1.000 1 2011 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 7 2 2009 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 7 2 2009 2015
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content
phenotype Finding 14 0.100 None 0
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 103 31 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: C1142132
Disease: Carnitine deficiency
Carnitine deficiency
phenotype Finding 15 1 0.100 None 0
CUI: C1839436
Disease: Severe lactic acidosis
Severe lactic acidosis
phenotype Nutritional and Metabolic Diseases Finding 8 1 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis
phenotype Digestive System Diseases Finding 11 0.100 None 0
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy
phenotype Finding 12 9 0.100 None 0
Cytochrome C oxidase-negative muscle fibers
phenotype Finding 24 1 0.100 None 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers
phenotype Finding 59 1 0.100 None 0
Decreased activity of mitochondrial complex I
phenotype Finding 41 3 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 305 22 0.100 None 0
CUI: C1968729
Disease: Increased muscle glycogen content
Increased muscle glycogen content
phenotype Finding 6 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
Ventilator dependence with inability to wean
phenotype Finding 4 0.100 None 0
Mitochondrial respiratory chain defects
phenotype Finding 21 4 0.100 None 0