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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 89 17 0.510 strong 1.000 3 2002 2010
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.510 strong 1.000 3 2004 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.500 strong 1.000 1 2004 2004
CUI: C0008489
Disease: Chorea
Chorea 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 168 20 0.400 None 1.000 1 2004 2004
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.400 strong 1.000 1 2004 2004
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.310 strong 1.000 2 2004 2019
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: C0917730
Disease: Female sterility
Female sterility 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 28 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: 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: 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: 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: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.300 None 1.000 1 2016 2016
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: 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: 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: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.300 None 1.000 1 2004 2004
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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.300 strong 1.000 1 2004 2004
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 68 13 0.300 None 1.000 1 2004 2004
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.300 None 1.000 1 2004 2004
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: C4552765
Disease: Epilepsy, Minor
Epilepsy, Minor 		disease Nervous System Diseases Disease or Syndrome 8 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: 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