Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 237 417
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 162 240
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 128 164
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 124 192
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 54 69
C4317146 Acid reflux phenotype Finding Abnormality of the digestive system 50 58
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C1263846 Attention deficit hyperactivity disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 39 51
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 30 32
C0018681 Headache phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the nervous system 19 23
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 13 20
C0001807 Aggressive behavior phenotype Behavior and Behavior Mechanisms Individual Behavior Abnormality of the nervous system 13 18
C1836923 Gastrointestinal dysmotility phenotype Finding Abnormality of the digestive system 11 13
C4012968 Mild global developmental delay phenotype Finding Abnormality of the nervous system 11 13
C0600104 Obsessive compulsive behavior disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 9 9
C3489733 Oculomotor apraxia disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the eye 8 9
C0563243 Poor coordination phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 8 8
C1866934 Reduced tendon reflexes phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 8 8
C1851085 Severe expressive language delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 6 7
C3532947 Severe receptive language delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 4 4
C0042454 Velopharyngeal Insufficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of head or neck 3 5
C0027497 Nausea phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system 3 4
C0017152 Gastritis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 3 3
C1847762 Cerebellar cyst phenotype Finding Abnormality of the nervous system 2 3