Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0011581 Depressive disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1719 297
C0338656 Impaired cognition disease Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 1630 348
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 1064 27
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 925 294
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 868 68
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 833 95
C0497327 Dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 816 176
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779 0
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779 0
C0035309 Retinal Diseases group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 714 56
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 634 166
C0026838 Muscle Spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 580 48
C0029124 Optic Atrophy disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 568 51
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 560 635
C0040822 Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 528 52
C0234985 Mental deterioration phenotype Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 508 121
C0013362 Dysarthria disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 487 54
C4553743 Spasticity, CTCAE phenotype Finding 477 0
C0085584 Encephalopathies group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 457 64
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 453 97
C0007758 Cerebellar Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 441 120
C0432072 Dysmorphic features disease Congenital Abnormality 439 617
C0085215 Ovarian Failure, Premature disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 333 115
C0740279 Cerebellar atrophy disease Disease or Syndrome Abnormality of the nervous system 321 67