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: C0238056
Disease: Chorea, Senile
Chorea, Senile 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2004 2004
CUI: C0699728
Disease: Chronic progressive chorea
Chronic progressive chorea 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2004 2004
CUI: C0699731
Disease: Hereditary Chorea
Hereditary Chorea 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2004 2004
CUI: C0152113
Disease: Rheumatic Chorea
Rheumatic Chorea 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2004 2004
CUI: C0001890
Disease: Akinetic Petit Mal
Akinetic Petit Mal 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2004 2004
CUI: C4553705
Disease: Absence Seizure Disorder
Absence Seizure Disorder 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2004 2004
CUI: C0751124
Disease: Epilepsy, Absence, Atypical
Epilepsy, Absence, Atypical 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2004 2004
CUI: C4552765
Disease: Epilepsy, Minor
Epilepsy, Minor 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2004 2004
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 11 6 0.010 None < 0.001 1 2015 2015
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		disease Disease or Syndrome 11 76 0.100 None 0 2
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 7 0.300 None 1.000 1 2004 2004
CUI: C4317339
Disease: Juvenile Absence Epilepsy
Juvenile Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 13 3 0.300 None 1.000 1 2004 2004
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 3 0.300 None 1.000 1 2004 2004
CUI: C0278161
Disease: Ataxia, Motor
Ataxia, Motor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 0.300 None 1.000 1 2004 2004
CUI: C0750940
Disease: Tremor, Rubral
Tremor, Rubral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 0.300 None 1.000 1 2004 2004
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24 134 0.010 None 1.000 1 2019 2019
CUI: C0038279
Disease: Sterility, Postpartum
Sterility, Postpartum 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 28 0.300 None 1.000 1 2004 2004
CUI: C0917730
Disease: Female sterility
Female sterility 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 28 0.300 None 1.000 1 2004 2004
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		phenotype Finding 32 6 0.100 None 0
CUI: C0341869
Disease: Subfertility, Female
Subfertility, Female 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 33 1 0.300 None 1.000 1 2004 2004
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 33 13 0.300 None 1.000 1 2004 2004
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 1 0.300 None 1.000 1 2004 2004
CUI: C0021361
Disease: Female infertility
Female infertility 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 37 2 0.300 None 1.000 1 2004 2004
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 37 59 0.100 None 1.000 1 1 2019 2019
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease Nervous System Diseases Disease or Syndrome 53 122 0.100 None 0 1