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: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
disease Nervous System Diseases Disease or Syndrome 4 21 0.800 0.906 53 21 1993 2017
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 5 0.760 1.000 9 5 2014 2018
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 1 0.600 0.964 28 1 2012 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.510 0.500 2 1 1998 2001
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.500 1.000 14 1999 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 213 64 0.470 1.000 7 2004 2016
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
disease Disease or Syndrome 1 35 0.410 1.000 13 35 1993 2017
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 740 143 0.400 1.000 1 2012 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 1 2012 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.320 strong 1.000 2 1999 2013
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 88 0.300 1 2009 2009
CUI: C0178417
Disease: Anhedonia
Anhedonia
disease Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 31 4 0.300 1.000 1 2012 2012
CUI: C1961112
Disease: Heart Decompensation
Heart Decompensation
phenotype Cardiovascular Diseases Pathologic Function 101 0.300 1 2008 2008
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 25 0.300 1 2004 2004
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided
disease Cardiovascular Diseases Disease or Syndrome 105 0.300 1 2008 2008
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
disease Nervous System Diseases Disease or Syndrome 95 28 0.300 1 2004 2004
CUI: C1959583
Disease: Myocardial Failure
Myocardial Failure
disease Cardiovascular Diseases Disease or Syndrome 107 0.300 1 2008 2008
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome
disease Nervous System Diseases Disease or Syndrome 27 0.300 1 2004 2004
Autosomal Dominant Juvenile Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 27 0.300 1 2004 2004
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism
disease Nervous System Diseases Disease or Syndrome 32 2 0.300 1 2004 2004
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism
disease Nervous System Diseases Disease or Syndrome 33 0.300 1 2004 2004
CUI: C0752101
Disease: Parkinsonism, Experimental
Parkinsonism, Experimental
disease Nervous System Diseases Experimental Model of Disease 27 0.300 1 2004 2004
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 18 0.300 1 2004 2004
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 21 1 0.300 1 2004 2004
CUI: C0752104
Disease: Familial Juvenile Parkinsonism
Familial Juvenile Parkinsonism
disease Nervous System Diseases Disease or Syndrome 27 0.300 1 2004 2004