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: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 143 6 0.100 None 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 41 10 0.100 None 0
CUI: C0238637
Disease: Anal pain
Anal pain 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases Sign or Symptom 1 0.100 None 0
CUI: C0236000
Disease: Jaw pain
Jaw pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Sign or Symptom 6 1 0.100 None 0
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Finding 14 3 0.100 None 0 2
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 0.100 None 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.100 None 0
CUI: C0428977
Disease: Bradycardia
Bradycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 63 2 0.100 None 0
CUI: C0426900
Disease: Tibial torsion
Tibial torsion 		phenotype Finding 12 1 0.100 None 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype Finding 91 19 0.100 None 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 98 8 0.100 None 0
CUI: C0393703
Disease: Myoclonic Absence Epilepsy
Myoclonic Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 10 1 0.300 None 0
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 16 0.300 None 0
CUI: C0393695
Disease: Early Childhood Epilepsy, Myoclonic
Early Childhood Epilepsy, Myoclonic 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 0
CUI: C1849148
Disease: Decreased sensory nerve conduction velocity
Decreased sensory nerve conduction velocity 		phenotype Finding 15 0.100 None 0
CUI: C4732740
Disease: Acral ulceration
Acral ulceration 		phenotype Finding 8 0.100 None 0
CUI: C4023511
Disease: Obtundation status
Obtundation status 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype Finding 39 24 0.100 None 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		phenotype Anatomical Abnormality 24 0.100 None 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease Anatomical Abnormality 41 0.100 None 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease Anatomical Abnormality 40 3 0.100 None 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		phenotype Finding 23 1 0.100 None 0