Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 1052 139
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 758 125
C0497327 Dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 711 165
C0002726 Amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 685 93
C0011265 Presenile dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 664 159
C0007758 Cerebellar Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 420 64
C4721453 Peripheral Nervous System Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 380 64
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 343 52
C0031117 Peripheral Neuropathy group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 334 59