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.
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 100 46 0.900 None 1.000 30 11 1992 2019
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 80 53 0.710 None 1.000 1 4 2001 2001
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.470 None 1.000 15 5 1994 2019
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 5 0.400 None 1.000 2 2 1994 1996
CUI: C4304725
Disease: Leber plus disease
Leber plus disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 2 0.300 None 1.000 2 1994 1996
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 1 0.300 None 1.000 2 2003 2013
CUI: C0029125
Disease: Optic Atrophies, Hereditary
Optic Atrophies, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 1999 1999
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.300 None 0
Chemical and Drug Induced Liver Injury
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 461 38 0.200 None 1.000 1 2010 2010
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.180 None 1.000 9 1 1994 2016
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
group Eye Diseases; Nervous System Diseases Disease or Syndrome 112 2 0.150 None 1.000 5 1997 2008
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.110 None 1.000 1 1 1994 1994
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.110 None 1.000 1 2016 2016
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.110 None 1.000 1 2015 2015
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 1.000 1 1 2016 2016
CUI: C1510502
Disease: Oxyphilic Adenoma
Oxyphilic Adenoma
disease Neoplasms Neoplastic Process 114 3 0.100 None 0 1
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE
phenotype Finding 26 0.100 None 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
phenotype Finding 87 1 0.100 None 0 1
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
disease Disease or Syndrome 93 21 0.100 None 0
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas
disease Disease or Syndrome 33 0.100 None 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting
phenotype Pathological Conditions, Signs and Symptoms Finding 43 10 0.100 None 0