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.
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 1 2 0.710 None 1.000 4 2 2009 2017
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.500 None 1.000 1 2009 2009
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 826 32 0.350 None 1.000 6 2009 2019
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
disease Digestive System Diseases Disease or Syndrome 282 21 0.320 None 1.000 3 2005 2017
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 0.300 limited 1.000 1 2017 2017
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 104 0.300 None 1.000 1 2009 2009
Toxic effect of carbon tetrachloride
disease Chemically-Induced Disorders Injury or Poisoning 6 0.300 None 1.000 1 2005 2005
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.200 None 1.000 1 2007 2007
CUI: C0018129
Disease: Graft Rejection
Graft Rejection
phenotype Organ or Tissue Function 47 0.200 None 1.000 1 2012 2012
CUI: C0376618
Disease: Endotoxemia
Endotoxemia
phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.200 None 1.000 1 2013 2013
Chemical and Drug Induced Liver Injury
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 461 38 0.200 None 1.000 1 2005 2005
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.200 None 1.000 1 2013 2013
CUI: C0029866
Disease: Other ureteric obstruction
Other ureteric obstruction
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 52 0.200 None 1.000 1 2014 2014
CUI: C0160390
Disease: Injury of liver
Injury of liver
disease Digestive System Diseases; Wounds and Injuries Injury or Poisoning 36 0.200 None 1.000 1 2014 2014
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.120 None 1.000 3 2 2009 2017
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.120 None 1.000 2 1 2010 2014
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.110 None 1.000 1 2011 2011
CUI: C1318485
Disease: Liver regeneration disorder
Liver regeneration disorder
phenotype Digestive System Diseases Disease or Syndrome 346 0.100 None 1.000 12 2000 2019
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.100 None 0
Decreased activity of mitochondrial respiratory chain
phenotype Finding 34 0.100 None 0
Abnormal muscle fiber protein expression
phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.100 None 0
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia
phenotype Finding 17 8 0.100 None 0
Progressive sensorineural hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0