Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C0007758 Cerebellar Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 44 58
C0014877 Esotropia disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 33 38
C0494475 Tonic - clonic seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 17 21
C0013132 Drooling phenotype Stomatognathic Diseases Finding Abnormality of the nervous system; Abnormality of head or neck 14 14
C0027066 Myoclonus phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 12 13
C0013363 Dysautonomia disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 9 9
C0270834 Complex partial seizure with impairment of consciousness disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 7 10
C1527366 Salaam Seizures disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 7 7
C0270846 Epileptic drop attack disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 6 5
C4025616 CNS hypomyelination phenotype Finding Abnormality of the nervous system 5 6
C1845245 Lower limb hypertonia phenotype Finding Abnormality of the nervous system; Abnormality of limbs; Abnormality of the musculature 5 5
C4476567 Reduced brain choline level by MRS phenotype Finding Abnormality of the nervous system 3 3
C0277799 Intermittent fever phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of metabolism/homeostasis 2 2
C0270820 Gelastic Epilepsy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 2 2